Results 21 to 30 of about 2,830 (159)
Acta Neuropathologica Communications, 2018 Heterozygous mutations in glucocerebrosidase 1 (GBA1) are a major genetic risk factor for Parkinson’s disease and Dementia with Lewy bodies. Mutations in GBA1 leads to GBA1 enzyme deficiency, and GBA1-associated parkinsonism has an earlier age of onset ...
Donghoon Kim +7 more
doaj +1 more source
Cell Death and Disease, 2022 The effect of glucosylceramide (GlcCer) reprogramming on liver cancer metastasis remains poorly understood. In this study, we demonstrated that the protein expression of GBA1, which catalyses the conversion of GlcCer to ceramide, was downregulated in ...
Zhidong Qiu +11 more
doaj +1 more source
GBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies [PDF]
Molecular Genetics and Metabolism, 2020 The discovery that patients with Gaucher Disease (GD), a rare lysosomal storage disorder, were developing symptoms similar to Parkinson's disease (PD) led to investigation of the relationship between the two seemingly unrelated pathologies. GD, an autosomal recessive disorder, is the result of a biallelic mutation in the gene GBA1, which encodes for ...
Parker H, Johnson +4 more
openaire +2 more sources
Evolution and clustering of prodromal parkinsonian features in GBA1 carriers [PDF]
Movement Disorders, 2019 AbstractBackgroundFive to 25% of patients with PD carry glucocerebrosidase gene mutations, and 10% to 30% of glucocerebrosidase carriers will develop PD by age 80. Stratification of PD risk in glucocerebrosidase carriers provides an opportunity to target disease‐modifying therapies.ObjectiveCross‐sectional and longitudinal survey of prodromal PD signs ...
Mullin, S +9 more
openaire +4 more sources
PLoS ONE, 2020 Parkinson disease is the most common neurodegenerative movement disorder, estimated to affect one in twenty-five individuals over the age of 80. Mutations in glucocerebrosidase 1 (GBA1) represent the most common genetic risk factor for Parkinson disease.
Anna Migdalska-Richards +6 more
doaj +1 more source
Tool compounds robustly increase turnover of an artificial substrate by glucocerebrosidase in human brain lysates. [PDF]
PLoS ONE, 2015 Mutations in glucocerebrosidase (GBA1) cause Gaucher disease and also represent a common risk factor for Parkinson's disease and Dementia with Lewy bodies. Recently, new tool molecules were described which can increase turnover of an artificial substrate
Zdenek Berger +7 more
doaj +1 more source
Cells, 2023 Tightly regulated and highly adaptive lipid metabolic and transport pathways are critical to maintaining brain cellular lipid homeostasis and responding to lipid and inflammatory stress to preserve brain function and health.
Kyle J. Connolly +5 more
doaj +1 more source
Molecular mechanisms of α-synuclein and GBA1 in Parkinson’s disease [PDF]
Cell and Tissue Research, 2017 Parkinson's disease (PD) is a neurodegenerative movement disorder characterized pathologically by the presence of Lewy bodies comprised of insoluble alpha (α)-synuclein. Pathological, clinical and genetic studies demonstrate that mutations in the GBA1 gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase) that is deficient in Gaucher's ...
Iva, Stojkovska +2 more
openaire +2 more sources
Deregulation of mTORC1-TFEB axis in human iPSC model of GBA1-associated Parkinson’s disease
Frontiers in Neuroscience, 2023 Mutations in the GBA1 gene are the single most frequent genetic risk factor for Parkinson’s disease (PD). Neurodegenerative changes in GBA1-associated PD have been linked to the defective lysosomal clearance of autophagic substrates and aggregate-prone ...
Fahad Mubariz +7 more
doaj +1 more source
Neurobiology of Disease, 2020 The presence of GBA1 gene mutations increases risk for Parkinson's disease (PD), but the pathogenic mechanisms of GBA1 associated PD remain unknown. Given that impaired α-synuclein turnover is a hallmark of PD pathogenesis and cathepsin D is a key enzyme
Shi-yu Yang +3 more
doaj +1 more source