カワジリ　スミヒロ   KAWAJIRI Sumihiro   河尻　澄宏    所属   医学部 医学科（附属東洋医学研究所）    職種   准教授
論文種別	総説
言語種別	英語
査読の有無	査読あり
表題	Genetic mutations and functions of PINK1.
掲載誌名	正式名：Trends in pharmacological sciences 略　 称：Trends Pharmacol Sci ISSNコード：18733735/01656147
掲載区分	国外
巻・号・頁	32(10),pp.573-80
著者・共著者	Kawajiri Sumihiro, Saiki Shinji, Sato Shigeto, Hattori Nobutaka
担当区分	筆頭著者
発行年月	2011/10
概要	Parkinson's disease (PD) is the second most common neurodegenerative disease. Mutations in PINK1 (PARK6) are the second most frequent cause of autosomal recessive, young-onset PD, after parkin (PARK2). PINK1 (a kinase with an N-terminal mitochondrial targeting sequence) provides protection against mitochondrial dysfunction and regulates mitochondrial morphology via fission/fusion machinery. PINK1 also acts upstream of parkin (a cytosolic E3 ubiquitin ligase) in a common pathway. Recent studies have described PINK1/parkin function in the maintenance of mitochondrial quality via autophagy (mitophagy). PINK1/parkin-mediated mitophagy provides new insights into the etiology of PD and could be a suitable target for new treatment of PD. In this review, we discuss the molecular genetics and functions of PINK1, which could be key factors in novel rational therapy for sporadic PD as well as PINK1-linked PD.
DOI	10.1016/j.tips.2011.06.001
PMID	21784538