Cells, 2022 β-glucocerebrosidase is a lysosomal hydrolase involved in the catabolism of the sphingolipid glucosylceramide. Biallelic loss of function mutations in this enzyme are responsible for the onset of Gaucher disease, while monoallelic β-glucocerebrosidase ...
Giulia Lunghi +18 more
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Did α-Synuclein and Glucocerebrosidase Coevolve? Implications for Parkinson's Disease. [PDF]
PLoS ONE, 2015 Mutations in the GBA1 gene are associated with increased risk of Parkinson's disease, and the protein produced by the gene, glucocerebrosidase, interacts with α-synuclein, the protein at the center of the disease etiology.
James M Gruschus
doaj +3 more sources
Glucocerebrosidase and its relevance to Parkinson disease
Molecular Neurodegeneration, 2019 Mutations in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, are among the most common known genetic risk factors for the development of Parkinson disease and related synucleinopathies.
Jenny Do +3 more
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Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations [PDF]
JAMA Neurology, 2020 Key Points Question Does ambroxol cross the blood-brain barrier, and what are the biochemical changes associated with ambroxol therapy in patients with Parkinson disease with and without glucocerebrosidase gene mutations?
Stephen Mullin +20 more
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Glucocerebrosidase activity and lipid levels are related to protein pathologies in Parkinson’s disease [PDF]
bioRxiv, 2022 Parkinson’s disease (PD) and dementia with Lewy bodies (DLB) are progressive neurodegenerative diseases characterized by the accumulation of misfolded α-synuclein in the form of Lewy pathology.
Cheryl E. G. Leyns +13 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
doaj +2 more sources
Effects of glucocerebrosidase gene variations on the risk of Parkinson’s disease dementia: a meta-analysis [PDF]
Frontiers in Aging NeuroscienceObjectiveThis meta-analysis aimed to investigate the effects of glucocerebrosidase gene (GBA) variations on the risk of Parkinson’s disease dementia (PDD) and to identify the relationship between GBA variations and PDD.MethodA comprehensive search was ...
Qiujie Li +8 more
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HEPES in Cell Culture Alters the Multi-Omics Profile Exhibited by Gaucher Disease Fibroblasts. [PDF]
J Cell BiochemABSTRACT Lysosomal function can be affected by components in cell culture. This in turn may influence cellular metabolism and, consequently, research and diagnostics outcomes. One such component is the commonly used pH buffer 4‐(2‐hydroxyethyl)‐1‐piperazineethanesulfonic acid (HEPES).
Corazolla EM +14 more
europepmc +2 more sources
Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity
Movement Disorders, 2021 Mutations in the GBA gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), are risk factors for Parkinson's disease (PD).
Nurit Omer +14 more
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Comparative analysis of methods for measuring glucocerebrosidase enzyme activity in patients with Parkinson’s disease with the GBA1 variant [PDF]
Frontiers in NeurologyIntroductionGBA1 variants are significant genetic risk factors for Parkinson’s disease (PD). Accurately measuring glucocerebrosidase (GCase) activity is crucial for understanding disease progression and developing targeted therapies.
Jin Hwangbo +6 more
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