Classification of GBA1 Variants in Parkinson's Disease: The GBA1‐PD Browser
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders"
DOI: 10.1002/mds.29314
Abstract: GBA1 variants are among the most common genetic risk factors for Parkinson's disease (PD). GBA1 variants can be classified into three categories based on their role in Gaucher's disease (GD) or PD: severe, mild, and… read more here.
Keywords: gba1; parkinson disease; disease gba1; classification gba1 ... See more keywords
Consequences of excessive glucosylsphingosine in glucocerebrosidase-deficient zebrafish.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of lipid research"
DOI: 10.1016/j.jlr.2022.100199
Abstract: In Gaucher disease (GD), the deficiency of glucocerebrosidase (GCase/ GBA1) causes lysosomal accumulation of glucosylceramide (GlcCer), which is partly converted by acid ceramidase (ACase) to glucosylsphingosine (GlcSph) in the lysosome. Chronically elevated blood and tissue… read more here.
Keywords: glcsph; deficient zebrafish; glucocerebrosidase deficient; excessive glcsph ... See more keywords
Glucocerebrosidase deficiency in dopaminergic neurons induces microglial activation without neurodegeneration
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DOI: 10.1093/hmg/ddx120
Abstract: Mutations in the GBA1 gene encoding the lysosomal enzyme glucocerebrosidase (GBA1) are important risk factors for Parkinson's disease (PD). In vitro, altered GBA1 activity promotes alpha-synuclein accumulation whereas elevated levels of alpha-synuclein compromise GBA1 function,… read more here.
Keywords: neurodegeneration; gba1; alpha synuclein; dopaminergic neurons ... See more keywords
Role of β-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish[S]
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DOI: 10.1194/jlr.ra119000154
Abstract: β-glucosidases [GBA1 (glucocerebrosidase) and GBA2] are ubiquitous essential enzymes. Lysosomal GBA1 and cytosol-facing GBA2 degrade glucosylceramide (GlcCer); GBA1 deficiency causes Gaucher disease, a lysosomal storage disorder characterized by lysosomal accumulation of GlcCer, which is partly… read more here.
Keywords: gba1 gba2; gba2; deficiency; metabolism ... See more keywords
Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson's disease
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.1039214
Abstract: Objective Biallelic mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase, cause the lysosomal storage disorder Gaucher disease (GD). In addition, mutations in GBA1 are the most common genetic risk factor for future development of… read more here.
Keywords: gba1; disease; mutation carriers; mutation ... See more keywords
DNA Methylation of α-Synuclein Intron 1 Is Significantly Decreased in the Frontal Cortex of Parkinson’s Individuals with GBA1 Mutations
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24032687
Abstract: Parkinson’s disease (PD) is a common movement disorder, estimated to affect 4% of individuals by the age of 80. Mutations in the glucocerebrosidase 1 (GBA1) gene represent the most common genetic risk factor for PD,… read more here.
Keywords: gba1; dna methylation; synuclein; parkinson ... See more keywords