| Literature DB >> 28445716 |
Laura Scott1, Valina L Dawson2, Ted M Dawson3.
Abstract
Parkinson's disease (PD) is a neurodegenerative movement disorder characterized by the progressive loss of dopaminergic (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 FBXO7, 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.Entities:
Keywords: Autosomal recessive Parkinson's disease; Mitochondria; Oxidative stress; PINK1; Parkin; Protein degradation
Mesh:
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Year: 2017 PMID: 28445716 PMCID: PMC5653467 DOI: 10.1016/j.expneurol.2017.04.008
Source DB: PubMed Journal: Exp Neurol ISSN: 0014-4886 Impact factor: 5.330