25 results for “gaucher”. Showing 25 of 39,449.
The role of saposin C in Gaucher disease.
Gaucher disease. Gaucher disease is a rare autosomal recessive lysosomal
Gaucher disease provides a unique window into Parkinson disease pathogenesis.
Gaucher disease and the common complex disorder Parkinson disease (PD). Gaucher
Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation.
Gaucher disease. We also tested the effect of this Gaucher
Fronto-temporal dementia risk gene
Gaucher disease and neuronal ceroid lipofuscinosis. To study Gaucher disease
Deletion of Gba in neurons, but not microglia, causes neurodegeneration in a Gaucher mouse model.
Gaucher disease, the most prevalent lysosomal storage disease, is caused
Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing.
Gaucher disease. We explored mechanisms for the gene's association
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.
Gaucher disease (GD), resulting from biallelic mutations in the gene
Gaucher disease.
Gaucher disease is an autosomal recessive condition due to glucocerebrosidase
Direct activation of microglia by β-glucosylceramide causes phagocytosis of neurons that exacerbates Gaucher disease.
Gaucher disease (GD) is the most common lysosomal storage disease
An increase in ER stress and unfolded protein response in iPSCs-derived neuronal cells from neuronopathic Gaucher disease patients.
Gaucher disease (GD) is a lysosomal storage disorder caused by a mutation
Developing Allosteric Chaperones for
Gaucher disease and increased risk of Parkinson's disease. This
Lung Transplantation in Gaucher Disease: A Learning Lesson in Trying to Avoid Both Scylla and Charybdis.
Gaucher disease (GD), a lysosomal storage disorder, may result in end-stage
Ganglioside synthesis inhibitors cause peripheral neuropathy in Gaucher disease models
Gaucher disease, a related disease that involves glycosphingolipid storage in peripheral
Myoclonus in neuronal storage and Lafora diseases.
Gaucher's disease among the sphingolipidoses, most of the variants
High-throughput screening for small-molecule stabilizers of misfolded glucocerebrosidase in Gaucher disease and Parkinson's disease.
Gaucher disease, GD) and a common, multifactorial condition (Parkinson's disease
AAV-mediated GBA1 and GDNF rescue neurological defects in a murine model of neuronopathic Gaucher disease.
Gaucher disease (nGD) is a life-threatening disease that progresses
Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells.
Gaucher disease (GD) is caused by mutations in the GBA1
Gaucher-Associated Parkinsonism.
Gaucher disease is associated with Parkinson's disease (PD) by mutations
Evaluation of Induced Pluripotent Stem Cell-Derived Dopaminergic Neurons from Siblings with Gaucher Disease Discordant for Parkinsonism.
Gaucher disease (GD), glucocerebrosidase (GCase) deficiency results from biallelic pathogenic
Challenges in Gaucher disease: Perspectives from an expert panel.
Gaucher disease (GD) clinicians and researchers: 1) The consideration of GD as distinct
AAV delivery of GBA1 suppresses α-synuclein accumulation in Parkinson's disease models and restores functions in Gaucher's disease models.
Gaucher's disease (GD), resulting in a deficient lysosomal hydrolase
Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.
Gaucher disease patients with parkinsonism), DNAJC13, GCH1, ATP13A2, PLA2G6 (n = 8 patients
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Gaucher disease; GRN: progranulin; GSD: glycogen storage disorder; HC: hippocampal
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Gaucher disease and monoallelic variants confer risk for PD and dementia
Glucocerebrosidase Mutations in Parkinson Disease.
Gaucher disease, a lysosomal storage disorder, mutations in the glucocerebrocidase