Consequences of excessive glucosylsphingosine in glucocerebrosidase-deficient zebrafish. [PDF]
, 2022 In Gaucher disease (GD), the deficiency of glucocerebrosidase causes lysosomal accumulation of glucosylceramide (GlcCer), which is partly converted by acid ceramidase to glucosylsphingosine (GlcSph) in the lysosome.
Wit, C. de +38 more
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Glucocerebrosidase Mutations in Gaucher Disease [PDF]
Molecular Medicine, 1994 Thirty-six mutations that cause Gaucher disease, the most common glycolipid storage disorder, are known. Although both alleles of most patients with the disease contain one of these mutations, in a few patients one or both disease-producing alleles have remained unidentified.
E, Beutler, A, Demina, T, Gelbart
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Cerebrospinal fluid β-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies
Neurobiology of Disease, 2009 The autophagy–lysosomal degradation pathway plays a role in the onset and progression of neurodegenerative diseases. Clinical and genetic studies indicate that mutations of β-glucocerebrosidase represent genetic risk factors for synucleinopathies ...
L. Parnetti +14 more
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Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine
, 2019 Glucocerebrosidase is a lysosomal enzyme. The characterization of a direct link between mutations in the gene coding for glucocerebrosidase (GBA1) with the development of Parkinson's disease and dementia with Lewy bodies has heightened interest in this ...
Cilia R. +6 more
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The Spectrum of Neurological Manifestations Associated with Gaucher Disease
Diseases, 2017 Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral ...
Tamanna Roshan Lal, Ellen Sidransky
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Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports [PDF]
Journal of Clinical and Diagnostic Research, 2015 Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. It is common in Ashkenazi Jews but rare in India.
DOLANCHAMPA MODAK +3 more
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Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal [PDF]
, 2008 Mutations in the gene encoding beta-glucocerebrosidase, a lysosomal degrading enzyme, have recently been associated with the development of Parkinson disease.
Morgadinho, A +17 more
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Glucocerebrosidase Defects as a Major Risk Factor for Parkinson’s Disease
Frontiers in Aging Neuroscience, 2020 Heterozygous mutations of the GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), occur in a considerable percentage of all patients with sporadic Parkinson’s disease (PD), varying between 8% and 12% across the world.
Micol Avenali +4 more
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A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease
Molecular Genetics & Genomic Medicine, 2020 Background Mutations in the GBA gene that encodes the lysosomal enzyme acid β‐glucocerebrosidase cause Gaucher disease (GD), the most common lysosomal storage disorder. Most of the mutations are missense/nonsense, however, a few splicing mutations within
Anna Malekkou +8 more
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Glucocerebrosidase mutations: A paradigm for neurodegeneration pathways [PDF]
, 2021 Biallelic (homozygous or compound heterozygous) glucocerebrosidase gene (GBA) mutations cause Gaucher disease, whereas heterozygous mutations are numerically the most important genetic risk factor for Parkinson disease (PD) and are associated with the ...
Schapira, AHV, Vieira, SRL
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