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Disease on EC 6.4.1.5 - geranoyl-CoA carboxylase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
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
Gene Therapy for Parkinson's Disease Associated with GBA1 Mutations.
Glucocerebrosidase expression patterns in the non-human primate brain.
Increased ?-synuclein oligomerization is associated with decreased activity of glucocerebrosidase in the aging human striatum and hippocampus.
Increased oligomerization and phosphorylation of ?-synuclein are associated with decreased activity of glucocerebrosidase and protein phosphatase 2A in aging monkey brains.
Mini review - The role of Glucocerebrosidase and Progranulin as possible targets in the treatment of Parkinson's disease.
Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.
The role of dopamine in the pathogenesis of GBA1-linked Parkinson's disease.
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.
Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease.
Acid ?-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter ?-synuclein processing.
Alteration of the proteostasis network of plant cells promotes the post-endoplasmic reticulum trafficking of recombinant mutant (L444P) human ?-glucocerebrosidase.
Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism.
Assessment of cellular cobalamin metabolism in Gaucher disease.
Bicyclic derivatives of L-idonojirimycin as pharmacological chaperones for neuronopathic forms of Gaucher disease.
Binding of 3,4,5,6-tetrahydroxyazepanes to the acid-?-glucosidase active site: implications for pharmacological chaperone design for Gaucher disease.
Brain-penetrant heat shock protein amplifier arimoclomol enhances GCase activity in in vitro Gaucher disease models.
Characterization of the N370S Mutant of Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry.
Conformationally-locked N-glycosides: exploiting long-range non-glycone interactions in the design of pharmacological chaperones for Gaucher disease.
Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease.
Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model.
Delivery of lysosomal enzymes for therapeutic use: glucocerebrosidase as an example.
Endosperm-specific expression of human acid beta-glucosidase in a waxy rice.
Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.
Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy.
Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease.
Glucocerebrosidase: Functions in and Beyond the Lysosome.
Glucosylceramide mimics: highly potent GCase inhibitors and selective pharmacological chaperones for mutations associated with types?1 and 2 Gaucher disease.
Hemorrhagic aspects of 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.
Identification of genetic modifiers of murine hepatic ?-glucocerebrosidase activity.
Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.
Imaging of enzyme replacement therapy using PET.
Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease.
In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models.
Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse.
Klotho-Related Protein KLrP: Structure and Functions.
Measurement of GCase Activity in Cultured Cells.
Mechanism of glucocerebrosidase activation and dysfunction in Gaucher disease unraveled by molecular dynamics and deep learning.
Mini review - The role of Glucocerebrosidase and Progranulin as possible targets in the treatment of Parkinson's disease.
Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation.
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant ?-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.
Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants.
Saposin C Protects Glucocerebrosidase against ?-Synuclein Inhibition.
Stereoselective Synthesis of C-2 Alkylated Trihydroxypiperidines: Novel Pharmacological Chaperones for Gaucher Disease.
The effects of chemically synthesized saposin C on glucosylceramide-?-glucosidase.
The metabolism of glucocerebrosides - From 1965 to the present.
The Uncovered Function of the Drosophila GBA1a-Encoded Protein.
Tissue Localization of Glycosphingolipid Accumulation in a Gaucher Disease Mouse Brain by LC-ESI-MS/MS and High-Resolution MALDI Imaging Mass Spectrometry.
Transient Production of Human ?-Glucocerebrosidase With Mannosidic-Type N-Glycan Structure in Glycoengineered Nicotiana benthamiana Plants.
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.
Accumulation and distribution of ?-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.
Altered Differentiation Potential of Gaucher's Disease iPSC Neuronal Progenitors due to Wnt/?-Catenin Downregulation.
Ambroxol modulates 6-Hydroxydopamine-induced temporal reduction in Glucocerebrosidase (GCase) enzymatic activity and Parkinson's disease symptoms.
Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease.
Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease.
Development and biochemical characterization of a mouse model of Parkinson's disease bearing defective glucocerebrosidase activity.
Effective cell and gene therapy in a murine model of Gaucher disease.
Elevated glucosylsphingosine in Gaucher disease induced pluripotent stem cell neurons deregulates lysosomal compartment through mammalian target of rapamycin complex 1.
Enzyme replacement therapy reverses B lymphocyte and dendritic cell dysregulations in patients with Gaucher Disease.
Gaucher disease gene GBA functions in immune regulation.
Gaucher disease iPSC-derived osteoblasts have developmental and lysosomal defects that impair bone matrix deposition.
Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis.
GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson's Disease.
GCase and LIMP2 Abnormalities in the Liver of Niemann Pick Type C Mice.
Glucocerebrosidase and parkinsonism: lessons to learn.
Glucocerebrosidase deficiency accelerates the accumulation of proteinase K-resistant ?-synuclein and aggravates neurodegeneration in a Drosophila model of Parkinson's disease.
Glucocerebrosidase deficiency promotes release of ?-synuclein fibrils from cultured neurons.
Glucocerebrosidase reduces the spread of protein aggregation in a Drosophila melanogaster model of neurodegeneration by regulating proteins trafficked by extracellular vesicles.
Glucocerebrosidase regulators SCARB2 and TFEB are up-regulated in Lewy body disease brain.
Induction of osteoclastogenesis in an in vitro model of Gaucher disease is mediated by T cells via TNF-?.
Murine models of acute neuronopathic Gaucher disease.
Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration.
Neurorestorative effects of sub-chronic administration of ambroxol in rodent model of Parkinson's disease.
Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology.
Saposin C Protects Glucocerebrosidase against ?-Synuclein Inhibition.
Tandem Mass Spectrometry Multiplex Analysis of Glucosylceramide and Galactosylceramide Isoforms in Brain Tissues at Different Stages of Parkinson Disease.
The Exosomal/Total ?-Synuclein Ratio in Plasma Is Associated With Glucocerebrosidase Activity and Correlates With Measures of Disease Severity in PD Patients.
The role of glucocerebrosidase in Parkinson disease pathogenesis.
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.
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.
Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease.
Measurement of GCase Activity in Cultured Cells.
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant ?-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.
Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants.
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.
In vitro accumulation of glucocerebroside in neuroblastoma cells: a model for study of Gaucher disease pathobiology.
The effect of mutant GBA1 on accumulation and aggregation of ?-synuclein.
Neurodegenerative Diseases
Activation of ?-Glucocerebrosidase Reduces Pathological ?-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.
Glucocerebrosidase dysfunction in neurodegenerative disease.
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.
Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease.
Glucocerebrosidase Defects as a Major Risk Factor for Parkinson's Disease.
Mitochondrial dysfunction associated with glucocerebrosidase deficiency.
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.
Murine models of acute neuronopathic Gaucher disease.
Niemann-Pick Diseases
Alpha galactosidase A activity in Parkinson's disease.
Parkinson Disease
?-Glucocerebrosidase Modulators Promote Dimerization of ?-Glucocerebrosidase and Reveal an Allosteric Binding Site.
A GCase Chaperone Improves Motor Function in a Mouse Model of Synucleinopathy.
Accumulation and distribution of ?-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.
Ambroxol modulates 6-Hydroxydopamine-induced temporal reduction in Glucocerebrosidase (GCase) enzymatic activity and Parkinson's disease symptoms.
Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model.
Dermal fibroblasts from patients with Parkinson's disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations.
Development and biochemical characterization of a mouse model of Parkinson's disease bearing defective glucocerebrosidase activity.
Fluorescence-quenched substrates for live cell imaging of human glucocerebrosidase activity.
Fluorescence-Quenched Substrates for Quantitative Live Cell Imaging of Glucocerebrosidase Activity.
Gene Therapy for Parkinson's Disease Associated with GBA1 Mutations.
Glucocerebrosidase Activity is Reduced in Cryopreserved Parkinson's Disease Patient Monocytes and Inversely Correlates with Motor Severity.
Glucocerebrosidase expression patterns in the non-human primate brain.
Hypercoagulability, parkinsonism, and Gaucher disease.
Identification of genetic modifiers of murine hepatic ?-glucocerebrosidase activity.
Increased ?-synuclein oligomerization is associated with decreased activity of glucocerebrosidase in the aging human striatum and hippocampus.
Increased oligomerization and phosphorylation of ?-synuclein are associated with decreased activity of glucocerebrosidase and protein phosphatase 2A in aging monkey brains.
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease.
Reduced glucocerebrosidase activity in monocytes from patients with Parkinson's disease.
Saposin C Protects Glucocerebrosidase against ?-Synuclein Inhibition.
Parkinsonian Disorders
Accumulation and distribution of ?-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.
Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism.
Gaucher-Associated 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.
Activation of ?-Glucocerebrosidase Reduces Pathological ?-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.
Conversion of Quinazoline Modulators from Inhibitors to Activators of ?-Glucocerebrosidase.
Gaucher disease glucocerebrosidase and ?-synuclein form a bidirectional pathogenic loop in synucleinopathies.
GBA1 mutations: Prospects for exosomal biomarkers in ?-synuclein pathologies.
Glucocerebrosidase Gene Therapy Induces Alpha-Synuclein Clearance and Neuroprotection of Midbrain Dopaminergic Neurons in Mice and Macaques.
Glucocerebrosidase Mutations and Synucleinopathies. Potential Role of Sterylglucosides and Relevance of Studying Both GBA1 and GBA2 Genes.
Molecular mechanisms of ?-synuclein and GBA1 in Parkinson's disease.
Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.
The glycoprotein GPNMB is selectively elevated in the substantia nigra of Parkinson's disease patients and increases after lysosomal stress.
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.