3.2.1.46 Astrocytoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9088373&form=6&db=m Increased activity of lysosomal glycohydrolases in glioma tissue and surrounding areas from human brain. diagnostic usage,ongoing research,unassigned 3,2,0 3.2.1.46 Ataxia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20839990&form=6&db=m Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease). causal interaction,unassigned 2,0 3.2.1.46 beta-galactosidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3926367&form=6&db=m [Two adult patients with GM1 ganglioside beta-galactosidase deficiency, showing myoclonus without radiological bony abnormalities] causal interaction,unassigned 4,0 3.2.1.46 Carcinoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10597190&form=6&db=m Transcriptional repression of the human galactocerebrosidase gene in squamous cell carcinomas of the larynx. ongoing research,unassigned 3,0 3.2.1.46 Carcinoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15657896&form=6&db=m Implications of galactocerebrosidase and galactosylcerebroside metabolism in cancer cells. ongoing research,therapeutic application,unassigned 2,1,0 3.2.1.46 Carcinoma, Squamous Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10597190&form=6&db=m Transcriptional repression of the human galactocerebrosidase gene in squamous cell carcinomas of the larynx. ongoing research,unassigned 3,0 3.2.1.46 Carcinoma, Squamous Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15657896&form=6&db=m Implications of galactocerebrosidase and galactosylcerebroside metabolism in cancer cells. ongoing research,therapeutic application,unassigned 2,1,0 3.2.1.46 Central Nervous System Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15996520&form=6&db=m AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2. unassigned - 3.2.1.46 Cerebral Palsy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3683760&form=6&db=m Late infantile Krabbe leukodystrophy: MRI and evoked potentials in a Japanese girl. unassigned - 3.2.1.46 cytochrome-c oxidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11575606&form=6&db=m Lactic acid elevation in extramitochondrial childhood neurodegenerative diseases. therapeutic application,therapeutic application,unassigned,unassigned 1,1,0,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8527855&form=6&db=m Murine model of genetic demyelinating disease: the twitcher mouse. causal interaction,unassigned 3,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8577041&form=6&db=m [Krabbe disease (globoid cell leukodystrophy)] causal interaction,unassigned 4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9005874&form=6&db=m Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene. causal interaction,diagnostic usage,unassigned 4,4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9371928&form=6&db=m Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination. causal interaction,unassigned 1,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9878848&form=6&db=m Responses to cyclic AMP is impaired in the twitcher Schwann cells in vitro. therapeutic application,unassigned 1,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10854208&form=6&db=m Distribution and characterization of GFP(+) donor hematogenous cells in Twitcher mice after bone marrow transplantation. unassigned - 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11494365&form=6&db=m IL-6 deficiency allows for enhanced therapeutic value after bone marrow transplantation across a minor histocompatibility barrier in the twitcher (globoid cell leukodystrophy) mouse. causal interaction,unassigned 1,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11756638&form=6&db=m Substrate-reduction therapy enhances the benefits of bone marrow transplantation in young mice with globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12865135&form=6&db=m Substrate reduction intervention by L-cycloserine in twitcher mice (globoid cell leukodystrophy) on a B6;CAST/Ei background. causal interaction,unassigned 2,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15039117&form=6&db=m Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by caspase activation. causal interaction,unassigned 4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15781194&form=6&db=m GALC transduction leads to morphological improvement of the twitcher oligodendrocytes in vivo. causal interaction,unassigned 4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16042308&form=6&db=m Hematopoietic cell transplantation ameliorates clinical phenotype and progression of the CNS pathology in the mouse model of late onset Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16732552&form=6&db=m Design and optimization of lentiviral vectors for transfer of GALC expression in Twitcher brain. causal interaction,unassigned 4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18077684&form=6&db=m Autonomic denervation of lymphoid organs leads to epigenetic immune atrophy in a mouse model of Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20135576&form=6&db=m Intracranial calcification after cord blood neonatal transplantation for krabbe disease. causal interaction,unassigned 3,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21734286&form=6&db=m Bone marrow transplantation augments the effect of brain- and spinal cord-directed adeno-associated virus 2/5 gene therapy by altering inflammation in the murine model of globoid-cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21876145&form=6&db=m Insights into Krabbe disease from structures of galactocerebrosidase. causal interaction,ongoing research,therapeutic application,unassigned 3,2,1,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23404611&form=6&db=m MMP-3 mediates psychosine-induced globoid cell formation: Implications for leukodystrophy pathology. causal interaction,unassigned 2,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23755134&form=6&db=m Central nervous system pathology progresses independently of KC and CXCR2 in globoid-cell leukodystrophy. causal interaction,unassigned 3,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23761900&form=6&db=m The sphingolipid psychosine inhibits fast axonal transport in Krabbe disease by activation of GSK3? and deregulation of molecular motors. unassigned - 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23809254&form=6&db=m Primary Bone Marrow Mesenchymal Stromal Cells Rescue the Axonal Phenotype of Twitcher Mice. causal interaction,unassigned 4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24316110&form=6&db=m Innate immune activation in the pathogenesis of a murine model of globoid cell leukodystrophy. causal interaction,ongoing research,unassigned 4,2,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25192051&form=6&db=m Aberrant production of tenascin-C in globoid cell leukodystrophy alters psychosine-induced microglial functions. causal interaction,unassigned 3,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25236689&form=6&db=m Effect of vitamin D3 intake on the onset of disease in a murine model of human Krabbe disease. causal interaction,ongoing research,unassigned 2,2,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27559102&form=6&db=m Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque With Severe Early-Onset Krabbe Disease. causal interaction,unassigned 4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638587&form=6&db=m Challenge of phenotype estimation for optimal treatment of Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28170189&form=6&db=m Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque with Severe Early-Onset Krabbe Disease. causal interaction,unassigned 4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31527255&form=6&db=m Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target. causal interaction,ongoing research,therapeutic application,unassigned 4,2,4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33097716&form=6&db=m Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease. causal interaction,unassigned 3,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33178108&form=6&db=m Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature. causal interaction,unassigned 4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33191329&form=6&db=m Adult Krabbe Disease That Was Successfully Treated with Intravenous Immunoglobulin. causal interaction,therapeutic application,unassigned 3,1,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33388420&form=6&db=m Enhanced Efficacy and Increased Long-Term Toxicity of CNS-Directed, AAV-Based Combination Therapy for Krabbe Disease. causal interaction,unassigned 3,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33822434&form=6&db=m Reduction in miR-219 expression underlies cellular pathogenesis of oligodendrocytes in a mouse model of Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Demyelinating Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34480290&form=6&db=m Hybrid Nanoparticles as a Novel Tool for Regulating Psychosine-Induced Neuroinflammation and Demyelination In Vitro and Ex vivo. unassigned - 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1778346&form=6&db=m Krabbe disease in monozygotic triplets. causal interaction,unassigned 4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1817026&form=6&db=m Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases. causal interaction,diagnostic usage,unassigned 3,2,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2034480&form=6&db=m Hematopoietic cell transplantation after administration of high-dose busulfan in murine globoid cell leukodystrophy (the twitcher mouse). ongoing research,therapeutic application,unassigned 3,1,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2091007&form=6&db=m A case of Krabbe's leukodystrophy without globoid cells. causal interaction,unassigned 4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2174071&form=6&db=m Late-onset globoid cell leukodystrophy: unusual ultrastructural pathology and subtotal beta-galactocerebrosidase deficiency. causal interaction,diagnostic usage,ongoing research,unassigned 4,2,1,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3278379&form=6&db=m Donor-derived cells in the central nervous system of twitcher mice after bone marrow transplantation. causal interaction,unassigned 3,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3895053&form=6&db=m Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species. causal interaction,unassigned 4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3926367&form=6&db=m [Two adult patients with GM1 ganglioside beta-galactosidase deficiency, showing myoclonus without radiological bony abnormalities] causal interaction,unassigned 4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=5034675&form=6&db=m Galactocerebrosidase deficiency in globoid cell leucodystrophy of late onset. unassigned - 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6382609&form=6&db=m Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse. unassigned - 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6491533&form=6&db=m Analysis of galactosylsphingosine (psychosine) in the brain. unassigned - 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6719111&form=6&db=m Progressive accumulation of toxic metabolite in a genetic leukodystrophy. diagnostic usage,ongoing research,unassigned 1,1,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6778958&form=6&db=m Human brain cerebroside beta-galactosidase: deficiency of transgalactosidic activity in Krabbe's disease. causal interaction,ongoing research,unassigned 4,3,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6850275&form=6&db=m Lipids of developing brain of twitcher mouse. An authentic murine model of human Krabbe disease. causal interaction,therapeutic application,unassigned 3,2,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8101401&form=6&db=m Hematopoietic cell transplantation in the twitcher mouse. The effects of pretransplant conditioning with graded doses of busulfan. ongoing research,therapeutic application,unassigned 2,1,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8311994&form=6&db=m Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease. diagnostic usage,ongoing research,therapeutic application,unassigned 2,3,4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8579588&form=6&db=m Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer. causal interaction,ongoing research,unassigned 4,4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10090061&form=6&db=m Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta). causal interaction,unassigned 3,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10811833&form=6&db=m Inhibition of cytokinesis by a lipid metabolite, psychosine. causal interaction,unassigned 4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10861297&form=6&db=m Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency). causal interaction,unassigned 3,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11726558&form=6&db=m Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: estrogen appears to be a critical factor. causal interaction,unassigned 4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14572137&form=6&db=m Globoid cell leukodystrophy (Krabbe's disease): update. causal interaction,therapeutic application,unassigned 4,1,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15141649&form=6&db=m [From gene to disease; Krabbe disease and galactosylceramidase deficiency] causal interaction,unassigned 4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15290897&form=6&db=m Comparative clinico-pathological study of saposin-A-deficient (SAP-A-/-) and Twitcher mice. causal interaction,unassigned 1,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15534764&form=6&db=m Late infantile onset krabbe disease in siblings with cortical degeneration and absence of cerebral globoid cells. causal interaction,unassigned 3,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15707574&form=6&db=m Galactosylceramidase deficiency causes sperm abnormalities in the mouse model of globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15948181&form=6&db=m Myelin deterioration in Twitcher mice: motor evoked potentials and magnetic resonance imaging as in vivo monitoring tools. causal interaction,unassigned 4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17458901&form=6&db=m Psychosine-induced apoptosis and cytokine activation in immune peripheral cells of Krabbe patients. causal interaction,unassigned 4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18077684&form=6&db=m Autonomic denervation of lymphoid organs leads to epigenetic immune atrophy in a mouse model of Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18172657&form=6&db=m Peripheral neuropathy in the twitcher mouse: accumulation of extracellular matrix in the endoneurium and aberrant expression of ion channels. causal interaction,unassigned 4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18850314&form=6&db=m A combined artificial chromosome-stem cell therapy method in a model experiment aimed at the treatment of Krabbe's disease in the Twitcher mouse. ongoing research,therapeutic application,unassigned 1,4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25240259&form=6&db=m Experimental therapies in the murine model of globoid cell leukodystrophy. causal interaction,ongoing research,unassigned 4,2,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26567009&form=6&db=m Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report. causal interaction,diagnostic usage,unassigned 4,4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27426866&form=6&db=m Generation of a LacZ reporter transgenic mouse line for the stereological analysis of oligodendrocyte loss in galactosylceramidase deficiency. causal interaction,unassigned 3,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638614&form=6&db=m Beyond Krabbe's disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies. causal interaction,unassigned 4,0 3.2.1.46 galactosylceramidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29995202&form=6&db=m The Second Case of Saposin A Deficiency and Altered Autophagy. causal interaction,unassigned 4,0 3.2.1.46 Gangliosidosis, GM1 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1497620&form=6&db=m Human placental beta-galactosidase. Characterization of the dimer and complex forms of the enzyme. causal interaction,unassigned 3,0 3.2.1.46 Gangliosidosis, GM1 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3111543&form=6&db=m Hydrolysis of galactosylsphingosine and lactosylsphingosine by beta-galactosidases in human brain and cultured fibroblasts. unassigned - 3.2.1.46 Gangliosidosis, GM1 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3926367&form=6&db=m [Two adult patients with GM1 ganglioside beta-galactosidase deficiency, showing myoclonus without radiological bony abnormalities] causal interaction,unassigned 4,0 3.2.1.46 Gangliosidosis, GM1 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3934152&form=6&db=m Hydrolysis of galactosylceramide is catalyzed by two genetically distinct acid beta-galactosidases. causal interaction,diagnostic usage,ongoing research,unassigned 3,1,2,0 3.2.1.46 Gangliosidosis, GM1 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6432371&form=6&db=m Application of a GM1 ganglioside beta-galactosidase microassay method to diagnosis of GM1 gangliosidosis. causal interaction,diagnostic usage,therapeutic application,unassigned 1,4,1,0 3.2.1.46 Gangliosidosis, GM1 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6778958&form=6&db=m Human brain cerebroside beta-galactosidase: deficiency of transgalactosidic activity in Krabbe's disease. causal interaction,ongoing research,unassigned 4,3,0 3.2.1.46 Gangliosidosis, GM1 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6784662&form=6&db=m GM1 gangliosidosis: phenotypic variation in a single family. causal interaction,diagnostic usage,unassigned 4,3,0 3.2.1.46 Gaucher Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9779294&form=6&db=m Sequence, structural, functional, and phylogenetic analyses of three glycosidase families. causal interaction,unassigned 3,0 3.2.1.46 Genetic Diseases, Inborn http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3895053&form=6&db=m Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species. causal interaction,unassigned 4,0 3.2.1.46 Genetic Diseases, Inborn http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7526605&form=6&db=m Neuropathology of twitcher mice: examination by histochemistry, immunohistochemistry, lectin histochemistry and Fourier transform infrared microspectroscopy. causal interaction,unassigned 3,0 3.2.1.46 Genetic Diseases, Inborn http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29391017&form=6&db=m Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Genetic Diseases, Inborn http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32186243&form=6&db=m Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease. causal interaction,unassigned 4,0 3.2.1.46 Glaucoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25943734&form=6&db=m No Evidence of Association of Heterozygous Galactosylceramidase Deletion With Normal-Tension Glaucoma in a Korean Population. causal interaction,diagnostic usage,unassigned 2,1,0 3.2.1.46 Glaucoma, Open-Angle http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25943734&form=6&db=m No Evidence of Association of Heterozygous Galactosylceramidase Deletion With Normal-Tension Glaucoma in a Korean Population. causal interaction,diagnostic usage,unassigned 2,1,0 3.2.1.46 Glioblastoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9088373&form=6&db=m Increased activity of lysosomal glycohydrolases in glioma tissue and surrounding areas from human brain. diagnostic usage,ongoing research,unassigned 3,2,0 3.2.1.46 Head and Neck Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26617822&form=6&db=m DNA promoter hypermethylation contributes to down-regulation of galactocerebrosidase gene in lung and head and neck cancers. ongoing research,therapeutic application,unassigned 2,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17489&form=6&db=m A practical chromogenic procedure for the diagnosis of Krabbe's disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=85413&form=6&db=m The nature of mutation in Krabbe disease. diagnostic usage,ongoing research,unassigned 1,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=403037&form=6&db=m Lactosylceramidase assays for diagnosis of globoid cell leukodystrophy and GM1-gangliosidosis. diagnostic usage,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=507819&form=6&db=m Galactosylceramide beta-galactosidase in Krabbe disease: partial purification and characterization of the mutant enzyme. ongoing research,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=560646&form=6&db=m Galactocerebrosidase activity in canine globoid leukodystrophy. ongoing research,therapeutic application,unassigned 1,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=803971&form=6&db=m Lactosylceramide beta-galactosidase in human sphingolipidoses. Evidence for two genetically distinct enzymes. causal interaction,diagnostic usage,ongoing research,unassigned 2,2,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=844865&form=6&db=m Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's diseases). Third documented case. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1129758&form=6&db=m Globoid cell leukodystrophy: the first case with antemortem diagnosis in Japan. causal interaction,diagnostic usage,unassigned 1,3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1155085&form=6&db=m Chemical pathology of krabbe's disease. IV. Studies of galactosylceramide and lactosylceramide BETA-galactosidases in brain, white blood cells and aminotic fluid cells. causal interaction,diagnostic usage,unassigned 4,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1521344&form=6&db=m Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-beta-D- galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease. diagnostic usage,ongoing research,therapeutic application,unassigned 4,2,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1565214&form=6&db=m Thalamic and basal ganglia hyperdensities--a CT marker for globoid cell leukodystrophy? causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1591766&form=6&db=m The use of glycosides of 6- and 8-acylamino-4-methylumbelliferone in studies of the specificity and properties of human lysosomal glycolipid hydrolases. diagnostic usage,therapeutic application,unassigned 2,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1817026&form=6&db=m Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases. causal interaction,diagnostic usage,unassigned 3,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1891085&form=6&db=m Globoid cell leukodystrophy: a family with both late-infantile and adult type. causal interaction,unassigned 1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1930420&form=6&db=m MRI and CT findings in Krabbe disease. causal interaction,therapeutic application,unassigned 1,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2079710&form=6&db=m Somatic cell genetic analysis of the galactocerebrosidase gene: lack of complementation in human Krabbe disease/twitcher mouse cell hybrids. causal interaction,ongoing research,therapeutic application,unassigned 3,4,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2091007&form=6&db=m A case of Krabbe's leukodystrophy without globoid cells. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2120388&form=6&db=m Saposins (sphingolipid activator proteins) in the twitcher mutant mouse. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2174071&form=6&db=m Late-onset globoid cell leukodystrophy: unusual ultrastructural pathology and subtotal beta-galactocerebrosidase deficiency. causal interaction,diagnostic usage,ongoing research,unassigned 4,2,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2234850&form=6&db=m Late juvenile-onset Krabbe's disease. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2465381&form=6&db=m Decreased fatty acylation of myelin proteolipid protein in the twitcher mouse. ongoing research,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2558407&form=6&db=m [Psychosine: a "toxin" produced in the brain--its mechanism of action] causal interaction,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2884662&form=6&db=m Hematopoietic cell transplantation in murine globoid cell leukodystrophy (the twitcher mouse): effects on levels of galactosylceramidase, psychosine, and galactocerebrosides. ongoing research,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2907603&form=6&db=m Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency. causal interaction,diagnostic usage,ongoing research,therapeutic application 3,3,1,1 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3094585&form=6&db=m Metabolism of galactosylceramide in the twitcher mouse, an animal model of human globoid cell leukodystrophy. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3099066&form=6&db=m Galactosylcerebrosidase activity in tissues of twitcher mice with and without bone marrow transplantation. diagnostic usage,ongoing research,unassigned 1,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3111543&form=6&db=m Hydrolysis of galactosylsphingosine and lactosylsphingosine by beta-galactosidases in human brain and cultured fibroblasts. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3203114&form=6&db=m [A study of various properties of beta-galactocerebrosidase from human chorion using synthetic fluorescent substrates] causal interaction,diagnostic usage,therapeutic application,unassigned 1,2,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3278379&form=6&db=m Donor-derived cells in the central nervous system of twitcher mice after bone marrow transplantation. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3369131&form=6&db=m [Identification of Krabbe disease in 2 brothers from East Germany using a new fluorogenic substrate for galactocerebrosidase] ongoing research,therapeutic application,unassigned 1,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3369670&form=6&db=m A case of late variant form of infantile Krabbe disease with a partial deficiency of galactocerebrosidase. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3817319&form=6&db=m High density on computed tomography in infantile Krabbe's disease: a case report. therapeutic application,unassigned 1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3895053&form=6&db=m Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3926002&form=6&db=m Galactosylceramide- and lactosylceramide-loading studies in cultured fibroblasts from normal individuals and patients with globoid cell leukodystrophy (Krabbe's disease) and GM1-gangliosidosis. diagnostic usage,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=5034675&form=6&db=m Galactocerebrosidase deficiency in globoid cell leucodystrophy of late onset. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=5542535&form=6&db=m Krabbe's globoid cell leukodystrophy: deficiency of galactocerebroside beta-galactosidase activity. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6152665&form=6&db=m Biochemical aspects of globoid and metachromatic leukodystrophies. causal interaction,therapeutic application,unassigned 4,3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6692566&form=6&db=m Use of a fluorescent analogue of galactocerebroside for assay of galactocerebroside beta-galactosidase activity in skin fibroblasts from patients with Krabbe's disease. diagnostic usage,ongoing research,unassigned 3,3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6719111&form=6&db=m Progressive accumulation of toxic metabolite in a genetic leukodystrophy. diagnostic usage,ongoing research,unassigned 1,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6773584&form=6&db=m Specificity of galactosylceramidase activation by phosphatidylserine. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6778958&form=6&db=m Human brain cerebroside beta-galactosidase: deficiency of transgalactosidic activity in Krabbe's disease. causal interaction,ongoing research,unassigned 4,3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6783123&form=6&db=m Studies of a synthetic substrate in canine globoid cell leukodystrophy. causal interaction,therapeutic application,unassigned 1,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6850275&form=6&db=m Lipids of developing brain of twitcher mouse. An authentic murine model of human Krabbe disease. causal interaction,therapeutic application,unassigned 3,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7126630&form=6&db=m A protein activator of galactosylceramide beta-galactosidase. ongoing research,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7172437&form=6&db=m Application of a galactosylceramidase microassay method to early prenatal diagnosis of Krabbe's disease. causal interaction,diagnostic usage,therapeutic application,unassigned 1,2,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7214711&form=6&db=m Spectrophotometric and fluorimetric assays of galactocerebrosidase activity, their use in the diagnosis of Krabbe's disease. causal interaction,diagnostic usage,unassigned 4,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7316489&form=6&db=m Clinical and biochemical heterogeneity of globoid cell leukodystrophy. causal interaction,ongoing research,unassigned 1,3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7526605&form=6&db=m Neuropathology of twitcher mice: examination by histochemistry, immunohistochemistry, lectin histochemistry and Fourier transform infrared microspectroscopy. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7528964&form=6&db=m Spacio-temporal progression of demyelination in twitcher mouse: with clinico-pathological correlation. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7572154&form=6&db=m Electron microscopic finding of eccrine sweat gland epithelial cells in a patient with Krabbe disease. causal interaction,unassigned 1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7581365&form=6&db=m A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7601472&form=6&db=m Structure and organization of the human galactocerebrosidase (GALC) gene. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8124880&form=6&db=m [An adult patient with Krabbe's disease--the first case reported in Japan] causal interaction,diagnostic usage,unassigned 4,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8250040&form=6&db=m Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8281145&form=6&db=m Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. causal interaction,ongoing research,unassigned 4,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8297359&form=6&db=m Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase. ongoing research,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8311994&form=6&db=m Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease. diagnostic usage,ongoing research,therapeutic application,unassigned 2,3,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8389389&form=6&db=m Ultrastructural pathology of eccrine sweat gland epithelial cells in globoid cell leukodystrophy. ongoing research,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8577041&form=6&db=m [Krabbe disease (globoid cell leukodystrophy)] causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8579588&form=6&db=m Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer. causal interaction,ongoing research,unassigned 4,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8595408&form=6&db=m Molecular defects in Krabbe disease. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8634707&form=6&db=m Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8661004&form=6&db=m Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8677024&form=6&db=m Differentiation of rare leukodystrophies by post-mortem morphological and biochemical studies: female adrenoleukodystrophy-like disease and late-onset Krabbe disease. diagnostic usage,unassigned 1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8687180&form=6&db=m Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease. causal interaction,therapeutic application,unassigned 2,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8769874&form=6&db=m Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease. ongoing research,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8773776&form=6&db=m Impairment of protein kinase C activity in twitcher Schwann cells in vitro. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8786069&form=6&db=m Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8916164&form=6&db=m Serial MRI and neurophysiological studies in late-infantile Krabbe disease. diagnostic usage,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8940268&form=6&db=m Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. causal interaction,ongoing research,unassigned 2,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9005874&form=6&db=m Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene. causal interaction,diagnostic usage,unassigned 4,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9054082&form=6&db=m [Krabbe's disease--globoid cell leukodystrophy] causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9192853&form=6&db=m Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. causal interaction,ongoing research,unassigned 4,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9272171&form=6&db=m Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. diagnostic usage,ongoing research,unassigned 3,3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9358428&form=6&db=m Physicochemical characterization of psychosine by 1H nuclear magnetic resonance and electron microscopy. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9371928&form=6&db=m Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination. causal interaction,unassigned 1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9408597&form=6&db=m Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies. causal interaction,diagnostic usage,unassigned 4,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9434153&form=6&db=m Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9441867&form=6&db=m Analysis of the 5' flanking region of the human galactocerebrosidase (GALC) gene. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9595850&form=6&db=m Krabbe disease: an ultrastructural study of globoid cells and reactive astrocytes at the brain and optic nerves. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9779294&form=6&db=m Sequence, structural, functional, and phylogenetic analyses of three glycosidase families. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9875712&form=6&db=m Retroviral-mediated transfer of the galactocerebrosidase gene in neural progenitor cells. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9972877&form=6&db=m Transduction of cultured oligodendrocytes from normal and twitcher mice by a retroviral vector containing human galactocerebrosidase (GALC) cDNA. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10090061&form=6&db=m Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta). causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10234611&form=6&db=m Molecular heterogeneity of Krabbe disease. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10448809&form=6&db=m Protracted course of Krabbe disease in an adult patient bearing a novel mutation. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10464649&form=6&db=m Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10477434&form=6&db=m Molecular basis of late-life globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10740228&form=6&db=m L-cycloserine slows the clinical and pathological course in mice with globoid cell leukodystrophy (twitcher mice). causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10811833&form=6&db=m Inhibition of cytokinesis by a lipid metabolite, psychosine. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11024549&form=6&db=m TNF-receptor 1 deficiency fails to alter the clinical and pathological course in mice with globoid cell leukodystrophy (twitcher mice) but affords protection following LPS challenge. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11151421&form=6&db=m Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11371512&form=6&db=m A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11461188&form=6&db=m Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease). causal interaction,ongoing research,therapeutic application,unassigned 2,1,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11493025&form=6&db=m Retrovirus-mediated gene transfer and galactocerebrosidase uptake into twitcher glial cells results in appropriate localization and phenotype correction. causal interaction,ongoing research,unassigned 3,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11519726&form=6&db=m Psychosine is as potent an inducer of cell death as C6-ceramide in cultured fibroblasts and in MOCH-1 cells. causal interaction,diagnostic usage,therapeutic application,unassigned 3,3,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11526455&form=6&db=m Intraventricular administration of recombinant adenovirus to neonatal twitcher mouse leads to clinicopathological improvements. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11575606&form=6&db=m Lactic acid elevation in extramitochondrial childhood neurodegenerative diseases. therapeutic application,unassigned 1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11734583&form=6&db=m Quantification of galactosylsphingosine in the twitcher mouse using electrospray ionization-tandem mass spectrometry. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11756638&form=6&db=m Substrate-reduction therapy enhances the benefits of bone marrow transplantation in young mice with globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12077186&form=6&db=m Perineuronal oligodendrocytes protect against neuronal apoptosis through the production of lipocalin-type prostaglandin D synthase in a genetic demyelinating model. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12111848&form=6&db=m Establishment and characterization of spontaneously immortalized Schwann cells from murine model of globoid cell leukodystrophy (twitcher). unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12126153&form=6&db=m Globoid cell-like leukodystrophy in a domestic longhaired cat. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12810822&form=6&db=m Seminolipid and its precursor/degradative product, galactosylalkylacylglycerol, in the testis of saposin A- and prosaposin-deficient mice. causal interaction,therapeutic application,unassigned 1,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12865135&form=6&db=m Substrate reduction intervention by L-cycloserine in twitcher mice (globoid cell leukodystrophy) on a B6;CAST/Ei background. causal interaction,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14528915&form=6&db=m Sphingolipid profile in the CNS of the twitcher (globoid cell leukodystrophy) mouse: a lipidomics approach. causal interaction,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=14572137&form=6&db=m Globoid cell leukodystrophy (Krabbe's disease): update. causal interaction,therapeutic application,unassigned 4,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15039117&form=6&db=m Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by caspase activation. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15141649&form=6&db=m [From gene to disease; Krabbe disease and galactosylceramidase deficiency] causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15164096&form=6&db=m Transgenic rescue of Krabbe disease in the twitcher mouse. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15190197&form=6&db=m Treatment of lysosomal storage disorders: cell therapy and gene therapy. ongoing research,therapeutic application,unassigned 4,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15264220&form=6&db=m Genetic background markedly influences vulnerability of the hippocampal neuronal organization in the "twitcher" mouse model of globoid cell leukodystrophy. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15290897&form=6&db=m Comparative clinico-pathological study of saposin-A-deficient (SAP-A-/-) and Twitcher mice. causal interaction,unassigned 1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15534764&form=6&db=m Late infantile onset krabbe disease in siblings with cortical degeneration and absence of cerebral globoid cells. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15707574&form=6&db=m Galactosylceramidase deficiency causes sperm abnormalities in the mouse model of globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15781194&form=6&db=m GALC transduction leads to morphological improvement of the twitcher oligodendrocytes in vivo. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15851012&form=6&db=m AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15948181&form=6&db=m Myelin deterioration in Twitcher mice: motor evoked potentials and magnetic resonance imaging as in vivo monitoring tools. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15987783&form=6&db=m Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy. causal interaction,therapeutic application,unassigned 4,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16042308&form=6&db=m Hematopoietic cell transplantation ameliorates clinical phenotype and progression of the CNS pathology in the mouse model of late onset Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16169269&form=6&db=m Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16169744&form=6&db=m Insulin-like growth factor-1 provides protection against psychosine-induced apoptosis in cultured mouse oligodendrocyte progenitor cells using primarily the PI3K/Akt pathway. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16199167&form=6&db=m The therapeutic potential of neural stem/progenitor cells in murine globoid cell leukodystrophy is conditioned by macrophage/microglia activation. causal interaction,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16352725&form=6&db=m Galactocerebrosidase-deficient oligodendrocytes maintain stable central myelin by exogenous replacement of the missing enzyme in mice. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16394159&form=6&db=m Quantitative analysis of diffusion tensor imaging data in serial assessment of krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16417879&form=6&db=m Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16435193&form=6&db=m Globoid cell leukodystrophy (Krabbe disease): Normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16645197&form=6&db=m Krabbe disease: psychosine-mediated activation of phospholipase A2 in oligodendrocyte cell death. causal interaction,ongoing research,therapeutic application,unassigned 3,1,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16732552&form=6&db=m Design and optimization of lentiviral vectors for transfer of GALC expression in Twitcher brain. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16759875&form=6&db=m Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD). unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16805770&form=6&db=m Intrinsic resistance of neural stem cells to toxic metabolites may make them well suited for cell non-autonomous disorders: evidence from a mouse model of Krabbe leukodystrophy. therapeutic application,unassigned 1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16876017&form=6&db=m Myoclonic seizures in Krabbe disease: a unique presentation in late-onset type. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17072020&form=6&db=m Diagnosis of Krabbe disease by use of a natural substrate. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17403939&form=6&db=m Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy. therapeutic application,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17458901&form=6&db=m Psychosine-induced apoptosis and cytokine activation in immune peripheral cells of Krabbe patients. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17986221&form=6&db=m Cellular uptake and lysosomal delivery of galactocerebrosidase tagged with the HIV Tat protein transduction domain. ongoing research,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18077684&form=6&db=m Autonomic denervation of lymphoid organs leads to epigenetic immune atrophy in a mouse model of Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18165263&form=6&db=m Clinical and immunopathologic alterations in rhesus macaques affected with globoid cell leukodystrophy. causal interaction,unassigned 1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18172657&form=6&db=m Peripheral neuropathy in the twitcher mouse: accumulation of extracellular matrix in the endoneurium and aberrant expression of ion channels. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18248608&form=6&db=m The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes: implication for Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18850314&form=6&db=m A combined artificial chromosome-stem cell therapy method in a model experiment aimed at the treatment of Krabbe's disease in the Twitcher mouse. ongoing research,therapeutic application,unassigned 1,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19147730&form=6&db=m Specific determination of beta-galactocerebrosidase activity via competitive inhibition of beta-galactosidase. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19185028&form=6&db=m Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease. ongoing research,therapeutic application,unassigned 4,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19217332&form=6&db=m Significant correction of pathology in brains of twitcher mice following injection of genetically modified mouse neural progenitor cells. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19332366&form=6&db=m Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment. causal interaction,diagnostic usage,unassigned 2,3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19346954&form=6&db=m The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. causal interaction,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19650072&form=6&db=m Diffusion tensor imaging detects axonal injury and demyelination in the spinal cord and cranial nerves of a murine model of globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19748497&form=6&db=m Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20040316&form=6&db=m Krabbe disease: an overview. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20135576&form=6&db=m Intracranial calcification after cord blood neonatal transplantation for krabbe disease. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20410102&form=6&db=m Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20418135&form=6&db=m A galactose-free diet enriched in soy isoflavones and antioxidants results in delayed onset of symptoms of Krabbe disease in twitcher mice. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20511539&form=6&db=m The galactocerebrosidase enzyme contributes to the maintenance of a functional hematopoietic stem cell niche. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20886637&form=6&db=m Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21064113&form=6&db=m Mesenchymal-Lineage Stem Cells Have Pronounced Anti-Inflammatory Effects in the Twitcher Mouse Model of Krabbe's Disease. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21070211&form=6&db=m Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21084719&form=6&db=m Identification of hematopoietic stem cell-specific miRNAs enables gene therapy of globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21280158&form=6&db=m Mesenchymal lineage stem cells have pronounced anti-inflammatory effects in the twitcher mouse model of Krabbe's disease. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21620749&form=6&db=m CNS-targeted AAV5 gene transfer results in global dispersal of vector and prevention of morphological and function deterioration in CNS of globoid cell leukodystrophy mouse model. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21824559&form=6&db=m Early infantile krabbe disease: results of the world-wide krabbe registry. diagnostic usage,therapeutic application,unassigned 3,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21876145&form=6&db=m Insights into Krabbe disease from structures of galactocerebrosidase. causal interaction,ongoing research,therapeutic application,unassigned 3,2,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22115770&form=6&db=m Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards. diagnostic usage,ongoing research,unassigned 4,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22381022&form=6&db=m Developmental and Functional Outcomes in Children with a Positive Newborn Screen for Krabbe Disease: A Pilot Study of a Phone-Based Interview Surveillance Technique. diagnostic usage,ongoing research,unassigned 4,3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22520351&form=6&db=m Later onset phenotypes of Krabbe disease: results of the world-wide registry. causal interaction,diagnostic usage,unassigned 1,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22704480&form=6&db=m Bone marrow transplantation increases efficacy of central nervous system-directed enzyme replacement therapy in the murine model of globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22849820&form=6&db=m Oxidative stress as a therapeutic target in globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22850681&form=6&db=m Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22859505&form=6&db=m The galactocerebrosidase enzyme contributes to maintain a functional neurogenic niche during early post-natal CNS development. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22951180&form=6&db=m High-throughput screening of stem cell therapy for globoid cell leukodystrophy using automated neurophenotyping of twitcher mice. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22959700&form=6&db=m Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene. therapeutic application,unassigned 1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23052461&form=6&db=m Krabbe disease: the importance of early diagnosis for prognosis. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23276707&form=6&db=m A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease. diagnostic usage,ongoing research,unassigned 4,3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23404611&form=6&db=m MMP-3 mediates psychosine-induced globoid cell formation: Implications for leukodystrophy pathology. causal interaction,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23430802&form=6&db=m Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23438514&form=6&db=m Role of endogenous psychosine accumulation in oligodendrocytes differentiation and survival: Implication for Krabbe disease. causal interaction,therapeutic application,unassigned 3,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23462331&form=6&db=m Four novel GALC gene mutations in two Chinese patients with Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23523865&form=6&db=m Quantification of psychosine in the serum of twitcher mouse by LC-ESI-tandem-MS analysis. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23590629&form=6&db=m Characterization of adipose-derived stromal/stem cells from the twitcher mouse model of Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23606584&form=6&db=m Multipotent stromal cells alleviate inflammation, neuropathology, and symptoms associated with globoid cell leukodystrophy in the twitcher mouse. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23611871&form=6&db=m Region- and age-dependent alterations of glial-neuronal metabolic interactions correlate with CNS pathology in a mouse model of globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23620143&form=6&db=m Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23761900&form=6&db=m The sphingolipid psychosine inhibits fast axonal transport in Krabbe disease by activation of GSK3? and deregulation of molecular motors. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23809254&form=6&db=m Primary Bone Marrow Mesenchymal Stromal Cells Rescue the Axonal Phenotype of Twitcher Mice. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24006512&form=6&db=m Psychosine, the cytotoxic sphingolipid that accumulates in Globoid Cell Leukodystrophy, alters membrane architecture. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24252386&form=6&db=m Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24316110&form=6&db=m Innate immune activation in the pathogenesis of a murine model of globoid cell leukodystrophy. causal interaction,ongoing research,unassigned 4,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24432014&form=6&db=m New Players in the Infertility of a Mouse Model of Lysosomal Storage Disease: The Hypothalamus-Pituitary-Gonadal Axis. causal interaction,unassigned 1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24463171&form=6&db=m Molecular cloning and knockdown of galactocerebrosidase in zebrafish: new insights into the pathogenesis of Krabbe's disease. causal interaction,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24765480&form=6&db=m Optic nerve enlargement in infantile form of Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25192051&form=6&db=m Aberrant production of tenascin-C in globoid cell leukodystrophy alters psychosine-induced microglial functions. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25193740&form=6&db=m Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease. causal interaction,diagnostic usage,unassigned 4,3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25208498&form=6&db=m GC-EI-MS analysis of fatty acid composition in brain and serum of twitcher mouse. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25236689&form=6&db=m Effect of vitamin D3 intake on the onset of disease in a murine model of human Krabbe disease. causal interaction,ongoing research,unassigned 2,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25240259&form=6&db=m Experimental therapies in the murine model of globoid cell leukodystrophy. causal interaction,ongoing research,unassigned 4,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25412308&form=6&db=m Role of extracellular calcium and mitochondrial oxygen species in psychosine-induced oligodendrocyte cell death. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25533112&form=6&db=m Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25664578&form=6&db=m Morphological and molecular characterisation of Twitcher mouse spermatogenesis: an update. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25762404&form=6&db=m Measurement of psychosine in dried blood spots - a possible improvement to newborn screening programs for Krabbe disease. diagnostic usage,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25888852&form=6&db=m Transplantation of mouse embryonic stem cell-derived oligodendrocytes in the murine model of globoid cell leukodystrophy. causal interaction,unassigned 1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25904800&form=6&db=m Mechanism-based combination treatment dramatically increases therapeutic efficacy in murine globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26108143&form=6&db=m Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26115766&form=6&db=m Mitigation of cerebellar neuropathy in globoid cell leukodystrophy mice by AAV-mediated gene therapy. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26329589&form=6&db=m Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26509184&form=6&db=m Design of a regulated lentiviral vector for hematopoietic stem cell gene therapy of globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26567009&form=6&db=m Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report. causal interaction,diagnostic usage,unassigned 4,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26795590&form=6&db=m Newborn screening for Krabbe disease in New York State: the first eight years' experience. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26865610&form=6&db=m Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity. causal interaction,diagnostic usage,unassigned 4,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27025653&form=6&db=m Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy. causal interaction,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27126738&form=6&db=m Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27426866&form=6&db=m Generation of a LacZ reporter transgenic mouse line for the stereological analysis of oligodendrocyte loss in galactosylceramidase deficiency. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27442402&form=6&db=m Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD). causal interaction,unassigned 1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27491217&form=6&db=m Insights into the Pathogenesis and Treatment of Krabbe Disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27545315&form=6&db=m Synthesis and evaluation of N-alkylated analogues of aza-galacto-fagomine - potential pharmacological chaperones for Krabbe disease. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27559102&form=6&db=m Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque With Severe Early-Onset Krabbe Disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638581&form=6&db=m My encounters with Krabbe disease: A personal recollection of a 40-Year journey with young colleagues. causal interaction,diagnostic usage,therapeutic application,unassigned 1,2,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638585&form=6&db=m Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe's disease). causal interaction,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638587&form=6&db=m Challenge of phenotype estimation for optimal treatment of Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638593&form=6&db=m Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease. causal interaction,diagnostic usage,unassigned 4,3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638594&form=6&db=m Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically? therapeutic application,unassigned 1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638595&form=6&db=m Metabolic profiling reveals biochemical pathways and potential biomarkers associated with the pathogenesis of Krabbe disease. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638597&form=6&db=m Clinical management of Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638598&form=6&db=m Treatment for Krabbe's disease: Finding the combination. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638599&form=6&db=m Intrathecal administration of AAV/GALC vectors in 10-11-day-old twitcher mice improves survival and is enhanced by bone marrow transplant. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638602&form=6&db=m Cellular transplant therapies for globoid cell leukodystrophy: Preclinical and clinical observations. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638606&form=6&db=m Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease. diagnostic usage,therapeutic application,unassigned 1,3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638607&form=6&db=m Lithium improves cell viability in psychosine-treated MO3.13 human oligodendrocyte cell line via autophagy activation. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638608&form=6&db=m Substrate reduction therapy for Krabbe's disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638612&form=6&db=m Perspective on innovative therapies for globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638613&form=6&db=m Zoledronate derivatives as potential inhibitors of uridine diphosphate-galactose ceramide galactosyltransferase 8: A combined molecular docking and dynamic study. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638614&form=6&db=m Beyond Krabbe's disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27721144&form=6&db=m Glycosynthase mediated synthesis of psychosine. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27920424&form=6&db=m Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28000364&form=6&db=m A Specific Activity-Based Probe to Monitor Family GH59 Galactosylceramidase, the Enzyme Deficient in Krabbe Disease. causal interaction,unassigned 1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28103109&form=6&db=m Impaired spermatogenesis in the twitcher mouse: A morphological evaluation from the seminiferous tubules to epididymal transit. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28170189&form=6&db=m Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque with Severe Early-Onset Krabbe Disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28442746&form=6&db=m Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28579020&form=6&db=m Psychosine, a marker of Krabbe phenotype and treatment effect. causal interaction,therapeutic application,unassigned 4,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28592445&form=6&db=m Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease. causal interaction,diagnostic usage,unassigned 4,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29316812&form=6&db=m AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease). causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29391017&form=6&db=m Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29433937&form=6&db=m Long-Term Improvement of Neurological Signs and Metabolic Dysfunction in a Mouse Model of Krabbe's Disease after Global Gene Therapy. causal interaction,therapeutic application,unassigned 3,3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29615819&form=6&db=m Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29623914&form=6&db=m Heterozygous carriers of galactocerebrosidase mutations that cause Krabbe disease have impaired microglial function and defective repair of myelin damage. causal interaction,therapeutic application,unassigned 4,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29951496&form=6&db=m Adult-onset Krabbe disease in two generations of a Chinese family. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29995202&form=6&db=m The Second Case of Saposin A Deficiency and Altered Autophagy. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30089515&form=6&db=m A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30176352&form=6&db=m Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30546085&form=6&db=m Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease. diagnostic usage,ongoing research,unassigned 1,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30899093&form=6&db=m Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30926673&form=6&db=m Quantitative Microproteomics Based Characterization of the Central and Peripheral Nervous System of a Mouse Model of Krabbe Disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31053700&form=6&db=m Report of a Case that Expands the Phenotype of Infantile Krabbe Disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31090922&form=6&db=m Ethical issues with testing and treatment for Krabbe disease. causal interaction,diagnostic usage,therapeutic application,unassigned 2,2,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31100476&form=6&db=m Increased isoprostanoid levels in brain from murine model of Krabbe disease - Relevance of isoprostanes, dihomo-isoprostanes and neuroprostanes to disease severity. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31184217&form=6&db=m An Engineered Galactosylceramidase Construct Improves AAV Gene Therapy for Krabbe Disease in Twitcher Mice. causal interaction,ongoing research,therapeutic application,unassigned 4,2,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31240153&form=6&db=m Genotype and phenotype classification of 29 patients affected by Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31350907&form=6&db=m Screening for Krabbe disease: The first 2 years' experience. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31527255&form=6&db=m Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target. causal interaction,ongoing research,therapeutic application,unassigned 4,2,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31720353&form=6&db=m Fluorimetric assay with a novel substrate for quantification of galactocerebrosidase activity in dried blood spot specimens. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31794880&form=6&db=m Cerebrospinal fluid and serum glycosphingolipid biomarkers in canine globoid cell leukodystrophy (Krabbe Disease). unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31799395&form=6&db=m Brain-targeted enzyme-loaded nanoparticles: A breach through the blood-brain barrier for enzyme replacement therapy in Krabbe disease. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31869371&form=6&db=m Self-association of human beta-galactocerebrosidase: Dependence on pH, salt, and surfactant. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32064984&form=6&db=m A new compound heterozygous mutation in adult-onset Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32089546&form=6&db=m The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease. diagnostic usage,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32127495&form=6&db=m Fingolimod rescues demyelination in a mouse model of Krabbe's disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32186243&form=6&db=m Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32253319&form=6&db=m Cell-autonomous expression of the acid hydrolase galactocerebrosidase. causal interaction,ongoing research,unassigned 3,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32363154&form=6&db=m Conditions for combining gene therapy with bone marrow transplantation in murine Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32484059&form=6&db=m Unusual Neuroimaging in a Case of Rapidly Progressive Juvenile-Onset Krabbe Disease. causal interaction,diagnostic usage,unassigned 4,2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32741916&form=6&db=m Screening, Synthesis, and Evaluation of Novel Isoflavone Derivatives as Inhibitors of Human Golgi ?-Galactosidase. unassigned - 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32763824&form=6&db=m Generation of a human induced pluripotent stem cell line PUMCi001-A from a patient with Krabbe disease. ongoing research,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32773406&form=6&db=m Krabbe disease successfully treated via monotherapy of intrathecal gene therapy. causal interaction,unassigned 2,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33097716&form=6&db=m Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33150395&form=6&db=m Long-term neurodevelopmental outcomes of hematopoietic stem cell transplantation for late-infantile Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33178108&form=6&db=m Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33191329&form=6&db=m Adult Krabbe Disease That Was Successfully Treated with Intravenous Immunoglobulin. causal interaction,therapeutic application,unassigned 3,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33388420&form=6&db=m Enhanced Efficacy and Increased Long-Term Toxicity of CNS-Directed, AAV-Based Combination Therapy for Krabbe Disease. causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33488964&form=6&db=m The Bicyclic Form of galacto-Noeurostegine Is a Potent Inhibitor of ?-Galactocerebrosidase. causal interaction,therapeutic application,unassigned 3,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33766733&form=6&db=m Krabbe disease: New hope for an old disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33822434&form=6&db=m Reduction in miR-219 expression underlies cellular pathogenesis of oligodendrocytes in a mouse model of Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33842284&form=6&db=m Can early treatment of twitcher mice with high dose AAVrh10-GALC eliminate the need for BMT? causal interaction,unassigned 3,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34015306&form=6&db=m Galactocerebrosidase activity by liquid-chromatography tandem mass spectrometry for clinical diagnosis of Krabbe disease. causal interaction,diagnostic usage,unassigned 4,4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34065072&form=6&db=m Newborn Screening for Krabbe Disease-Illinois Experience: Role of Psychosine in Diagnosis of the Disease. diagnostic usage,therapeutic application,unassigned 2,1,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34071213&form=6&db=m Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34080016&form=6&db=m Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease. causal interaction,unassigned 4,0 3.2.1.46 Leukodystrophy, Globoid Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34449528&form=6&db=m Advances in the Diagnosis and Treatment of Krabbe Disease. unassigned - 3.2.1.46 Leukodystrophy, Metachromatic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6152665&form=6&db=m Biochemical aspects of globoid and metachromatic leukodystrophies. causal interaction,therapeutic application,unassigned 4,3,0 3.2.1.46 Leukodystrophy, Metachromatic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8311994&form=6&db=m Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease. diagnostic usage,ongoing research,therapeutic application,unassigned 2,3,4,0 3.2.1.46 Leukodystrophy, Metachromatic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27025653&form=6&db=m Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy. causal interaction,unassigned 2,0 3.2.1.46 Lipidoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1565214&form=6&db=m Thalamic and basal ganglia hyperdensities--a CT marker for globoid cell leukodystrophy? causal interaction,unassigned 4,0 3.2.1.46 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3278379&form=6&db=m Donor-derived cells in the central nervous system of twitcher mice after bone marrow transplantation. causal interaction,unassigned 3,0 3.2.1.46 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16352725&form=6&db=m Galactocerebrosidase-deficient oligodendrocytes maintain stable central myelin by exogenous replacement of the missing enzyme in mice. causal interaction,unassigned 4,0 3.2.1.46 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20410102&form=6&db=m Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. causal interaction,unassigned 3,0 3.2.1.46 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21620749&form=6&db=m CNS-targeted AAV5 gene transfer results in global dispersal of vector and prevention of morphological and function deterioration in CNS of globoid cell leukodystrophy mouse model. causal interaction,unassigned 3,0 3.2.1.46 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22849820&form=6&db=m Oxidative stress as a therapeutic target in globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24316110&form=6&db=m Innate immune activation in the pathogenesis of a murine model of globoid cell leukodystrophy. causal interaction,ongoing research,unassigned 4,2,0 3.2.1.46 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25193740&form=6&db=m Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease. causal interaction,diagnostic usage,unassigned 4,3,0 3.2.1.46 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25904800&form=6&db=m Mechanism-based combination treatment dramatically increases therapeutic efficacy in murine globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26115766&form=6&db=m Mitigation of cerebellar neuropathy in globoid cell leukodystrophy mice by AAV-mediated gene therapy. causal interaction,unassigned 3,0 3.2.1.46 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26509184&form=6&db=m Design of a regulated lentiviral vector for hematopoietic stem cell gene therapy of globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27025653&form=6&db=m Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy. causal interaction,unassigned 2,0 3.2.1.46 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27442402&form=6&db=m Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD). causal interaction,unassigned 1,0 3.2.1.46 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29995202&form=6&db=m The Second Case of Saposin A Deficiency and Altered Autophagy. causal interaction,unassigned 4,0 3.2.1.46 Lysosomal Storage Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30176352&form=6&db=m Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease. causal interaction,unassigned 3,0 3.2.1.46 Melanoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32998995&form=6&db=m BETA-GALACTOSYLCERAMIDASE PROMOTES MELANOMA GROWTH VIA MODULATION OF CERAMIDE METABOLISM. causal interaction,ongoing research,unassigned 1,2,0 3.2.1.46 Metabolic Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25412308&form=6&db=m Role of extracellular calcium and mitochondrial oxygen species in psychosine-induced oligodendrocyte cell death. causal interaction,unassigned 3,0 3.2.1.46 Mucolipidoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3934152&form=6&db=m Hydrolysis of galactosylceramide is catalyzed by two genetically distinct acid beta-galactosidases. causal interaction,diagnostic usage,ongoing research,unassigned 3,1,2,0 3.2.1.46 Multiple Sclerosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28575206&form=6&db=m Heterozygote galactocerebrosidase (GALC) mutants have reduced remyelination and impaired myelin debris clearance following demyelinating injury. diagnostic usage,therapeutic application,unassigned 3,1,0 3.2.1.46 Myoclonus http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3926367&form=6&db=m [Two adult patients with GM1 ganglioside beta-galactosidase deficiency, showing myoclonus without radiological bony abnormalities] causal interaction,unassigned 4,0 3.2.1.46 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9088373&form=6&db=m Increased activity of lysosomal glycohydrolases in glioma tissue and surrounding areas from human brain. diagnostic usage,ongoing research,unassigned 3,2,0 3.2.1.46 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15657896&form=6&db=m Implications of galactocerebrosidase and galactosylcerebroside metabolism in cancer cells. ongoing research,therapeutic application,unassigned 2,1,0 3.2.1.46 Nervous System Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10811833&form=6&db=m Inhibition of cytokinesis by a lipid metabolite, psychosine. causal interaction,unassigned 4,0 3.2.1.46 Nervous System Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15039117&form=6&db=m Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by caspase activation. causal interaction,unassigned 4,0 3.2.1.46 Nervous System Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15987783&form=6&db=m Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy. causal interaction,therapeutic application,unassigned 4,1,0 3.2.1.46 Nervous System Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16645197&form=6&db=m Krabbe disease: psychosine-mediated activation of phospholipase A2 in oligodendrocyte cell death. causal interaction,ongoing research,therapeutic application,unassigned 3,1,4,0 3.2.1.46 Nervous System Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18248608&form=6&db=m The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes: implication for Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Nervous System Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29316812&form=6&db=m AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease). causal interaction,unassigned 3,0 3.2.1.46 Nervous System Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32484059&form=6&db=m Unusual Neuroimaging in a Case of Rapidly Progressive Juvenile-Onset Krabbe Disease. causal interaction,diagnostic usage,unassigned 4,2,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8595408&form=6&db=m Molecular defects in Krabbe disease. causal interaction,unassigned 3,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9054082&form=6&db=m [Krabbe's disease--globoid cell leukodystrophy] causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9408597&form=6&db=m Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies. causal interaction,diagnostic usage,unassigned 4,2,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10234611&form=6&db=m Molecular heterogeneity of Krabbe disease. causal interaction,unassigned 3,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10464649&form=6&db=m Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11734583&form=6&db=m Quantification of galactosylsphingosine in the twitcher mouse using electrospray ionization-tandem mass spectrometry. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15851012&form=6&db=m AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy. causal interaction,unassigned 3,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17164774&form=6&db=m Central Nervous System-directed AAV2/5-Mediated Gene Therapy Synergizes with Bone Marrow Transplantation in the Murine Model of Globoid-cell Leukodystrophy. causal interaction,unassigned 3,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19650072&form=6&db=m Diffusion tensor imaging detects axonal injury and demyelination in the spinal cord and cranial nerves of a murine model of globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19748497&form=6&db=m Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20040316&form=6&db=m Krabbe disease: an overview. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21876145&form=6&db=m Insights into Krabbe disease from structures of galactocerebrosidase. causal interaction,ongoing research,therapeutic application,unassigned 3,2,1,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22704480&form=6&db=m Bone marrow transplantation increases efficacy of central nervous system-directed enzyme replacement therapy in the murine model of globoid cell leukodystrophy. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22850681&form=6&db=m Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22951180&form=6&db=m High-throughput screening of stem cell therapy for globoid cell leukodystrophy using automated neurophenotyping of twitcher mice. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23590629&form=6&db=m Characterization of adipose-derived stromal/stem cells from the twitcher mouse model of Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27126738&form=6&db=m Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638585&form=6&db=m Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe's disease). causal interaction,unassigned 2,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638597&form=6&db=m Clinical management of Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638598&form=6&db=m Treatment for Krabbe's disease: Finding the combination. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638599&form=6&db=m Intrathecal administration of AAV/GALC vectors in 10-11-day-old twitcher mice improves survival and is enhanced by bone marrow transplant. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638602&form=6&db=m Cellular transplant therapies for globoid cell leukodystrophy: Preclinical and clinical observations. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638613&form=6&db=m Zoledronate derivatives as potential inhibitors of uridine diphosphate-galactose ceramide galactosyltransferase 8: A combined molecular docking and dynamic study. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27920424&form=6&db=m Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease. unassigned - 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28442746&form=6&db=m Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease. unassigned - 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28579020&form=6&db=m Psychosine, a marker of Krabbe phenotype and treatment effect. causal interaction,therapeutic application,unassigned 4,1,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30089515&form=6&db=m A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31184217&form=6&db=m An Engineered Galactosylceramidase Construct Improves AAV Gene Therapy for Krabbe Disease in Twitcher Mice. causal interaction,ongoing research,therapeutic application,unassigned 4,2,4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31869371&form=6&db=m Self-association of human beta-galactocerebrosidase: Dependence on pH, salt, and surfactant. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32127495&form=6&db=m Fingolimod rescues demyelination in a mouse model of Krabbe's disease. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32773406&form=6&db=m Krabbe disease successfully treated via monotherapy of intrathecal gene therapy. causal interaction,unassigned 2,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33150395&form=6&db=m Long-term neurodevelopmental outcomes of hematopoietic stem cell transplantation for late-infantile Krabbe disease. causal interaction,unassigned 4,0 3.2.1.46 Neurodegenerative Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34071213&form=6&db=m Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report. causal interaction,unassigned 4,0 3.2.1.46 Neuroinflammatory Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34480290&form=6&db=m Hybrid Nanoparticles as a Novel Tool for Regulating Psychosine-Induced Neuroinflammation and Demyelination In Vitro and Ex vivo. unassigned - 3.2.1.46 Niemann-Pick Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29369793&form=6&db=m Alpha galactosidase A activity in Parkinson's disease. causal interaction,diagnostic usage,ongoing research,unassigned 4,3,1,0 3.2.1.46 Paralysis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3290253&form=6&db=m Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse. causal interaction,unassigned 4,0 3.2.1.46 Paraplegia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9272171&form=6&db=m Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. diagnostic usage,ongoing research,unassigned 3,3,0 3.2.1.46 Paresis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20839990&form=6&db=m Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease). causal interaction,unassigned 2,0 3.2.1.46 Parkinson Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29481565&form=6&db=m Analysis of age-related changes in psychosine metabolism in the human brain. causal interaction,therapeutic application,unassigned 3,1,0 3.2.1.46 Sphingolipidoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2034480&form=6&db=m Hematopoietic cell transplantation after administration of high-dose busulfan in murine globoid cell leukodystrophy (the twitcher mouse). ongoing research,therapeutic application,unassigned 3,1,0 3.2.1.46 Sphingolipidoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6382609&form=6&db=m Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse. unassigned - 3.2.1.46 Sphingolipidoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8101401&form=6&db=m Hematopoietic cell transplantation in the twitcher mouse. The effects of pretransplant conditioning with graded doses of busulfan. ongoing research,therapeutic application,unassigned 2,1,0 3.2.1.46 Sphingolipidoses http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15275696&form=6&db=m Sphingolipidoses in Turkey. unassigned - 3.2.1.46 Synucleinopathies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27638614&form=6&db=m Beyond Krabbe's disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies. causal interaction,unassigned 4,0 3.2.1.46 Tremor http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3290253&form=6&db=m Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse. causal interaction,unassigned 4,0 3.2.1.46 Tremor http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20839990&form=6&db=m Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease). causal interaction,unassigned 2,0 3.2.1.46 Vitamin D Deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25236689&form=6&db=m Effect of vitamin D3 intake on the onset of disease in a murine model of human Krabbe disease. causal interaction,ongoing research,unassigned 2,2,0