期刊
MITOCHONDRIA AND OXIDATIVE STRESS IN NEURODEGENERATIVE DISORDERS
卷 1147, 期 -, 页码 30-36出版社
WILEY-BLACKWELL
DOI: 10.1196/annals.1427.032
关键词
genetics; Parkinson's disease; mitochondria; PINK1; HtrA2
资金
- MRC [G0700183] Funding Source: UKRI
- Medical Research Council [G0700183] Funding Source: Medline
Parkinson's disease (PD) is a common, disabling, neurodegenerative disease. Our knowledge of the molecular events leading to PD is being greatly enhanced by the study of relatively rare familial form of the disease. Nevertheless, the pathways leading from the genetic mutations to nigral cell degeneration and the other features in PD remain poorly understood. The identification of PINK1, a mitochondrial putative protein kinase, has helped understand the pathophysiology of mitochondria and their potential role in PD. Mutations in PINK1 are associated with the PARK6 autosomal recessive, early-onset, PD-susceptibility locus. Point mutations in another mitochondrial protein, HtrA2, are a susceptibility factor for PD (PARK13 locus). We report here the results of investigations into the interactors and pathways of these two mitochondrial molecules (PINK1 and HtrA2) in a range of models and human PD tissue.
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