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The Role of TMEM230 Gene in Parkinson's Disease.

ABSTRACT: Parkinson's disease (PD) is a common neurodegenerative disease whose pathogenesis remains unknown. TMEM230 gene, encoding a transmembrane protein in secretory and recycling vesicle, has been recently identified as a novel disease-causing gene of autosomal dominant PD with Lewy pathology and typical clinical symptoms. Although its mutation and variants seem to be rare in PD patients, functional studies have indicated that TMEM230 protein probably plays an important role in secretory and recycling pathway and may be involved in Lewy pathological mechanism. Here we summarize current genetic and functional reports about TMEM230 and focus on its relation with PD.

SUBMITTER: Deng H

PROVIDER: S-EPMC6218139 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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The Role of TMEM230 Gene in Parkinson's Disease.

Deng Hao H Fan Kuan K Jankovic Joseph J

Journal of Parkinson's disease 20180101 4

Parkinson's disease (PD) is a common neurodegenerative disease whose pathogenesis remains unknown. TMEM230 gene, encoding a transmembrane protein in secretory and recycling vesicle, has been recently identified as a novel disease-causing gene of autosomal dominant PD with Lewy pathology and typical clinical symptoms. Although its mutation and variants seem to be rare in PD patients, functional studies have indicated that TMEM230 protein probably plays an important role in secretory and recycling ...[more]

PMID: 30175983

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