期刊
EXPERIMENTAL NEUROLOGY
卷 298, 期 -, 页码 191-201出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.expneurol.2017.04.008
关键词
Autosomal recessive Parkinson's disease; Mitochondria; Oxidative stress; Protein degradation; Parkin; PINK1
资金
- NIH/NINDS [P50 NS38377]
- JPB Foundation
- Foundation's Parkinson's Disease Program [M-2014]
Parkinson's disease (PD) is a neurodegenerative movement disorder characterized by the progressive loss of do-paminergic (DA) neurons. Most PD cases are sporadic; however, rare familial forms have been identified. Autosomal recessive PD (ARPD) results from mutations in Parkin, PINK1, DJ-1, and ATP13A2, while rare, atypical juvenile ARPD result from mutations in FBXQ7, DNAJC6, SYNJ1, and PLA2G6. Studying these genes and their function has revealed mitochondrial quality control, protein degradation processes, and oxidative stress responses as common pathways underlying PD pathogenesis. Understanding how aberrancy in these common processes leads to neurodegeneration has provided the field with numerous targets that may be therapeutically relevant to the development of disease-modifying treatments. (C) 2017 Elsevier Inc. All rights reserved.
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