Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations
Sign Up to like & getrecommendations! Published in 2019 at "Autophagy"
DOI: 10.1080/15548627.2018.1509818
Abstract: ABSTRACT Heterozygous mutations in GBA, the gene encoding the lysosomal enzyme glucosylceramidase beta/β-glucocerebrosidase, comprise the most common genetic risk factor for Parkinson disease (PD), but the mechanisms underlying this association remain unclear. Here, we show… read more here.
Keywords: gba mutations; heterozygous gba; disease; mitochondrial dysfunction ... See more keywords
Neurological effects of glucocerebrosidase gene mutations
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Neurology"
DOI: 10.1111/ene.13837
Abstract: The association between Gaucher disease (GD) and Parkinson disease (PD) has been described for almost two decades. In the biallelic state (homozygous or compound heterozygous) mutations in the glucocerebrosidase gene (GBA) may cause GD, in… read more here.
Keywords: gba mutations; glucocerebrosidase gene; effects glucocerebrosidase; neurological effects ... See more keywords
Glucocerebrosidase Mutations Cause Mitochondrial and Lysosomal Dysfunction in Parkinson’s Disease: Pathogenesis and Therapeutic Implications
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Aging Neuroscience"
DOI: 10.3389/fnagi.2022.851135
Abstract: Parkinson’s disease (PD) is the second most common neurodegenerative disease and is characterized by multiple motor and non-motor symptoms. Mutations in the glucocerebrosidase (GBA) gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), which hydrolyzes glucosylceramide… read more here.
Keywords: disease; parkinson disease; dysfunction; pathogenesis ... See more keywords
GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson’s Disease
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22042215
Abstract: Heterozygous mutations in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), are the strongest known genetic risk factor for Parkinson’s disease (PD). The molecular mechanisms underlying the increased PD risk and the variable phenotypes… read more here.
Keywords: gba mutations; extracellular vesicles; release; parkinson disease ... See more keywords
SWATH Mass Spectrometry-Based CSF Proteome Profile of GBA-Linked Parkinson’s Disease Patients
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DOI: 10.3390/ijms232214166
Abstract: β-glucocerebrosidase (GBA)-associated mutations are a significant risk factor for Parkinson’s disease (PD) that aggravate the disease pathology by upregulating the deposition of α-Synuclein (α-Syn). The resultant clinical profile varies for PD patients without GBA mutations.… read more here.
Keywords: gba; disease; profile; parkinson disease ... See more keywords