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
Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12071711
Abstract: Rare diseases represent a diagnostic challenge due to their number, variety of clinical phenomena, and possibility of a simultaneous presence of two or more diseases. An illustration of this challenge is an occurrence of a… read more here.
Keywords: challenges rare; heterozygous gba; diseases diagnostics; incontinentia pigmenti ... See more keywords