Disease on EC 6.4.1.5 - geranoyl-CoA carboxylase
Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
Alzheimer Disease
Lysosomal Enzyme Glucocerebrosidase Protects against A?1-42 Oligomer-Induced Neurotoxicity.
Anosmia
GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.
Brain Diseases
Ambroxol Upregulates Glucocerebrosidase Expression to Promote Neural Stem Cells Differentiation Into Neurons Through Wnt/?-Catenin Pathway After Ischemic Stroke.
Dementia
Increased ?-synuclein oligomerization is associated with decreased activity of glucocerebrosidase in the aging human striatum and hippocampus.
Dementia
Increased oligomerization and phosphorylation of ?-synuclein are associated with decreased activity of glucocerebrosidase and protein phosphatase 2A in aging monkey brains.
Dementia
Mini review - The role of Glucocerebrosidase and Progranulin as possible targets in the treatment of Parkinson's disease.
Dementia
Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.
Encephalitis
Systemic enzyme delivery by blood-brain barrier-penetrating SapC-DOPS nanovesicles for treatment of neuronopathic Gaucher disease.
Fibrosarcoma
Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model.
Frontotemporal Lobar Degeneration
Mini review - The role of Glucocerebrosidase and Progranulin as possible targets in the treatment of Parkinson's disease.
Gaucher Disease
?-Glucocerebrosidase Modulators Promote Dimerization of ?-Glucocerebrosidase and Reveal an Allosteric Binding Site.
Gaucher Disease
Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease.
Gaucher Disease
Acid ?-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter ?-synuclein processing.
Gaucher Disease
Alteration of the proteostasis network of plant cells promotes the post-endoplasmic reticulum trafficking of recombinant mutant (L444P) human ?-glucocerebrosidase.
Gaucher Disease
Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism.
Gaucher Disease
Bicyclic derivatives of L-idonojirimycin as pharmacological chaperones for neuronopathic forms of Gaucher disease.
Gaucher Disease
Binding of 3,4,5,6-tetrahydroxyazepanes to the acid-?-glucosidase active site: implications for pharmacological chaperone design for Gaucher disease.
Gaucher Disease
Brain-penetrant heat shock protein amplifier arimoclomol enhances GCase activity in in vitro Gaucher disease models.
Gaucher Disease
Characterization of the N370S Mutant of Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry.
Gaucher Disease
Conformationally-locked N-glycosides: exploiting long-range non-glycone interactions in the design of pharmacological chaperones for Gaucher disease.
Gaucher Disease
Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease.
Gaucher Disease
Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model.
Gaucher Disease
Delivery of lysosomal enzymes for therapeutic use: glucocerebrosidase as an example.
Gaucher Disease
Endosperm-specific expression of human acid beta-glucosidase in a waxy rice.
Gaucher Disease
Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.
Gaucher Disease
Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy.
Gaucher Disease
Glucosylceramide mimics: highly potent GCase inhibitors and selective pharmacological chaperones for mutations associated with types?1 and 2 Gaucher disease.
Gaucher Disease
Human acid beta-glucosidase. Use of inhibitory and activating monoclonal antibodies to investigate the enzyme's catalytic mechanism and saposin A and C binding sites.
Gaucher Disease
Identification of genetic modifiers of murine hepatic ?-glucocerebrosidase activity.
Gaucher Disease
Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.
Gaucher Disease
Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease.
Gaucher Disease
In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models.
Gaucher Disease
Mechanism of glucocerebrosidase activation and dysfunction in Gaucher disease unraveled by molecular dynamics and deep learning.
Gaucher Disease
Mini review - The role of Glucocerebrosidase and Progranulin as possible targets in the treatment of Parkinson's disease.
Gaucher Disease
Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation.
Gaucher Disease
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant ?-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.
Gaucher Disease
Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants.
Gaucher Disease
Stereoselective Synthesis of C-2 Alkylated Trihydroxypiperidines: Novel Pharmacological Chaperones for Gaucher Disease.
Gaucher Disease
The effects of chemically synthesized saposin C on glucosylceramide-?-glucosidase.
Gaucher Disease
Tissue Localization of Glycosphingolipid Accumulation in a Gaucher Disease Mouse Brain by LC-ESI-MS/MS and High-Resolution MALDI Imaging Mass Spectrometry.
Gaucher Disease
Transient Production of Human ?-Glucocerebrosidase With Mannosidic-Type N-Glycan Structure in Glycoengineered Nicotiana benthamiana Plants.
Gaucher Disease
Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease.
geranoyl-coa carboxylase deficiency
Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease.
geranoyl-coa carboxylase deficiency
Accumulation and distribution of ?-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.
geranoyl-coa carboxylase deficiency
Altered Differentiation Potential of Gaucher's Disease iPSC Neuronal Progenitors due to Wnt/?-Catenin Downregulation.
geranoyl-coa carboxylase deficiency
Ambroxol modulates 6-Hydroxydopamine-induced temporal reduction in Glucocerebrosidase (GCase) enzymatic activity and Parkinson's disease symptoms.
geranoyl-coa carboxylase deficiency
Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease.
geranoyl-coa carboxylase deficiency
Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease.
geranoyl-coa carboxylase deficiency
Development and biochemical characterization of a mouse model of Parkinson's disease bearing defective glucocerebrosidase activity.
geranoyl-coa carboxylase deficiency
Effective cell and gene therapy in a murine model of Gaucher disease.
geranoyl-coa carboxylase deficiency
Elevated glucosylsphingosine in Gaucher disease induced pluripotent stem cell neurons deregulates lysosomal compartment through mammalian target of rapamycin complex 1.
geranoyl-coa carboxylase deficiency
Enzyme replacement therapy reverses B lymphocyte and dendritic cell dysregulations in patients with Gaucher Disease.
geranoyl-coa carboxylase deficiency
Gaucher disease gene GBA functions in immune regulation.
geranoyl-coa carboxylase deficiency
Gaucher disease iPSC-derived osteoblasts have developmental and lysosomal defects that impair bone matrix deposition.
geranoyl-coa carboxylase deficiency
Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis.
geranoyl-coa carboxylase deficiency
GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson's Disease.
geranoyl-coa carboxylase deficiency
GCase and LIMP2 Abnormalities in the Liver of Niemann Pick Type C Mice.
geranoyl-coa carboxylase deficiency
Glucocerebrosidase deficiency accelerates the accumulation of proteinase K-resistant ?-synuclein and aggravates neurodegeneration in a Drosophila model of Parkinson's disease.
geranoyl-coa carboxylase deficiency
Glucocerebrosidase deficiency promotes release of ?-synuclein fibrils from cultured neurons.
geranoyl-coa carboxylase deficiency
Glucocerebrosidase reduces the spread of protein aggregation in a Drosophila melanogaster model of neurodegeneration by regulating proteins trafficked by extracellular vesicles.
geranoyl-coa carboxylase deficiency
Glucocerebrosidase regulators SCARB2 and TFEB are up-regulated in Lewy body disease brain.
geranoyl-coa carboxylase deficiency
Induction of osteoclastogenesis in an in vitro model of Gaucher disease is mediated by T cells via TNF-?.
geranoyl-coa carboxylase deficiency
Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration.
geranoyl-coa carboxylase deficiency
Neurorestorative effects of sub-chronic administration of ambroxol in rodent model of Parkinson's disease.
geranoyl-coa carboxylase deficiency
Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology.
geranoyl-coa carboxylase deficiency
Saposin C Protects Glucocerebrosidase against ?-Synuclein Inhibition.
geranoyl-coa carboxylase deficiency
Tandem Mass Spectrometry Multiplex Analysis of Glucosylceramide and Galactosylceramide Isoforms in Brain Tissues at Different Stages of Parkinson Disease.
geranoyl-coa carboxylase deficiency
The Exosomal/Total ?-Synuclein Ratio in Plasma Is Associated With Glucocerebrosidase Activity and Correlates With Measures of Disease Severity in PD Patients.
geranoyl-coa carboxylase deficiency
The role of glucocerebrosidase in Parkinson disease pathogenesis.
geranoyl-coa carboxylase deficiency
Viable neuronopathic Gaucher disease model in Medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein.
Hyaline Membrane Disease
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease.
Hypersensitivity
Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model.
Ischemic Stroke
Ambroxol Upregulates Glucocerebrosidase Expression to Promote Neural Stem Cells Differentiation Into Neurons Through Wnt/?-Catenin Pathway After Ischemic Stroke.
Leukemia
Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease.
Leukemia
Expression of human glucocerebrosidase in long-term reconstituted mice following retroviral-mediated gene transfer into hematopoietic stem cells.
Lysosomal Storage Diseases
Alteration of the proteostasis network of plant cells promotes the post-endoplasmic reticulum trafficking of recombinant mutant (L444P) human ?-glucocerebrosidase.
Lysosomal Storage Diseases
Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease.
Lysosomal Storage Diseases
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant ?-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.
Lysosomal Storage Diseases
Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants.
Lysosomal Storage Diseases
Progranulin Recruits HSP70 to ?-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease.
Neoplasms
Interleukin-4 suppresses the enhancement of ceramide synthesis and cutaneous permeability barrier functions induced by tumor necrosis factor-alpha and interferon-gamma in human epidermis.
Neuroblastoma
Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: A biological link between Gaucher disease and parkinsonism.
Neuroblastoma
In vitro accumulation of glucocerebroside in neuroblastoma cells: a model for study of Gaucher disease pathobiology.
Neurodegenerative Diseases
Activation of ?-Glucocerebrosidase Reduces Pathological ?-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.
Neuroinflammatory Diseases
Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease.
Neuroinflammatory Diseases
Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease.
Neuroinflammatory Diseases
Glucocerebrosidase Defects as a Major Risk Factor for Parkinson's Disease.
Neuroinflammatory Diseases
Mitochondrial dysfunction associated with glucocerebrosidase deficiency.
Neuroinflammatory Diseases
The role of glucocerebrosidase in Parkinson disease pathogenesis.
Neurologic Manifestations
Defective Self-Renewal and Differentiation of GBA-Deficient Neural Stem Cells Can Be Restored By Macrophage Colony-Stimulating Factor.
Parkinson Disease
?-Glucocerebrosidase Modulators Promote Dimerization of ?-Glucocerebrosidase and Reveal an Allosteric Binding Site.
Parkinson Disease
A GCase Chaperone Improves Motor Function in a Mouse Model of Synucleinopathy.
Parkinson Disease
Accumulation and distribution of ?-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.
Parkinson Disease
Ambroxol modulates 6-Hydroxydopamine-induced temporal reduction in Glucocerebrosidase (GCase) enzymatic activity and Parkinson's disease symptoms.
Parkinson Disease
Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model.
Parkinson Disease
Dermal fibroblasts from patients with Parkinson's disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations.
Parkinson Disease
Development and biochemical characterization of a mouse model of Parkinson's disease bearing defective glucocerebrosidase activity.
Parkinson Disease
Fluorescence-quenched substrates for live cell imaging of human glucocerebrosidase activity.
Parkinson Disease
Fluorescence-Quenched Substrates for Quantitative Live Cell Imaging of Glucocerebrosidase Activity.
Parkinson Disease
Glucocerebrosidase Activity is Reduced in Cryopreserved Parkinson's Disease Patient Monocytes and Inversely Correlates with Motor Severity.
Parkinson Disease
Identification of genetic modifiers of murine hepatic ?-glucocerebrosidase activity.
Parkinson Disease
Increased ?-synuclein oligomerization is associated with decreased activity of glucocerebrosidase in the aging human striatum and hippocampus.
Parkinson Disease
Increased oligomerization and phosphorylation of ?-synuclein are associated with decreased activity of glucocerebrosidase and protein phosphatase 2A in aging monkey brains.
Parkinson Disease
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease.
Parkinson Disease
Reduced glucocerebrosidase activity in monocytes from patients with Parkinson's disease.
Parkinsonian Disorders
Accumulation and distribution of ?-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.
Parkinsonian Disorders
Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism.
Perinatal Death
Viable neuronopathic Gaucher disease model in Medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein.
Rabies
A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment.
REM Sleep Behavior Disorder
GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.
Synucleinopathies
A GCase Chaperone Improves Motor Function in a Mouse Model of Synucleinopathy.
Synucleinopathies
Activation of ?-Glucocerebrosidase Reduces Pathological ?-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.
Synucleinopathies
Conversion of Quinazoline Modulators from Inhibitors to Activators of ?-Glucocerebrosidase.
Synucleinopathies
Gaucher disease glucocerebrosidase and ?-synuclein form a bidirectional pathogenic loop in synucleinopathies.
Synucleinopathies
GBA1 mutations: Prospects for exosomal biomarkers in ?-synuclein pathologies.
Synucleinopathies
Glucocerebrosidase Gene Therapy Induces Alpha-Synuclein Clearance and Neuroprotection of Midbrain Dopaminergic Neurons in Mice and Macaques.
Synucleinopathies
Glucocerebrosidase Mutations and Synucleinopathies. Potential Role of Sterylglucosides and Relevance of Studying Both GBA1 and GBA2 Genes.
Synucleinopathies
Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.
Synucleinopathies
The glycoprotein GPNMB is selectively elevated in the substantia nigra of Parkinson's disease patients and increases after lysosomal stress.
Synucleinopathies
The role of dopamine in the pathogenesis of GBA1-linked Parkinson's disease.
Tetanus
A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment.
Thrombocytopenia
High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified.
html completed