Article
Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy.
Science advances - 11 Feb 2022
Kuo Sheng-Han, Tasset Inmaculada, Cheng Melody M, Diaz Antonio, Pan Ming-Kai, Lieberman Ori J, Hutten Samantha J, Alcalay Roy N, Kim Sangjun, Ximénez-Embún Pilar, Fan Li, Kim Donghoon, Ko Han Seok, Yacoubian Talene, Kanter Ellen, Liu Ling, Tang Guomei, Muñoz Javier, Sardi Sergio Pablo, Li Aiqun, Gan Li, Cuervo Ana Maria, Sulzer David
Abstract excerpt
The most common genetic risk factors for Parkinson's disease (PD) are a set of heterozygous mutant (MT) alleles of the GBA1 gene that encodes β-glucocerebrosidase (GCase), an enzyme normally trafficked through the ER/Golgi apparatus to the lysosomal lumen. We found that half of the GCase in lysosomes from postmortem human GBA-PD brains was present on the lysosomal surface and that this mislocalization depends on...
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