Article
Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations.
Autophagy - 1 Jan 2019
Li Hongyu, Ham Ahrom, Ma Thong Chi, Kuo Sheng-Han, Kanter Ellen, Kim Donghoon, Ko Han Seok, Quan Yi, Sardi Sergio Pablo, Li Aiqun, Arancio Ottavio, Kang Un Jung, Sulzer David, Tang Guomei
Abstract excerpt
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 that in GbaL444P/WT knockin mice, the L444P heterozygous Gba mutation triggers mitochondrial dysfunction by inhibiting autophagy and mitochondrial...
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