Results 21 to 30 of about 3,074 (177)
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
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
Angewandte Chemie, EarlyView.A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster +13 more
wiley +2 more sources
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
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
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
Blood Glucocerebrosidase Activity and α-Synuclein Levels in Patients with GBA1-Associated Parkinson's Disease and Asymptomatic GBA1 Mutation Carriers [PDF]
Анналы клинической и экспериментальной неврологииIntroduction. Mutations in a GBA1 gene, which encodes a lysosomal enzyme called glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease (PD). The pathogenesis of PD results from the death of dopaminergic neurons in the
Anton K. Emelyanov +13 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
Behavioral Phenotyping in a Murine Model of GBA1-Associated Parkinson Disease [PDF]
International Journal of Molecular Sciences, 2021 Mutations in GBA1, the gene encoding glucocerebrosidase, are common genetic risk factors for Parkinson disease (PD). While the mechanism underlying this relationship is unclear, patients with GBA1-associated PD often have an earlier onset and faster progression than idiopathic PD.
Jenny Do +4 more
openaire +2 more sources
Epigenomic profile of GBA1 in Parkinson's disease
Parkinsonism & Related DisordersWhile genome-wide association studies have identified GBA1 as a key gene contributing to disease severity and cognitive decline in PD, its molecular effects remain poorly understood.We used integrative bulk ATAC-seq across six brain regions from autopsied individuals with PD and varying genetic risk to characterize region- and cell type-specific ...
Eloise Berson +16 more
openaire +3 more sources