Article

Parkin R274W mutation affects muscle physiology via the PARIS-PGC-1α pathway

2023-10-30

Abstract excerpt

Recessive mutations in the Parkin gene ( PRKN ) are the most common cause of young-onset inherited parkinsonism. Parkin is a multifunctional E3 ubiquitin ligase that plays a variety of roles in the cell including the degradation of proteins and the maintenance of mitochondrial homeostasis, integrity, and biogenesis via the PARIS-PGC-1α pathway. In 2001 the R275W mutation in the PRKN gene was identified in two un...

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Literature Corpus work: 323c9c8a-576b-55d9-a979-5e8f37e10ae4
DOI: 10.1101/2023.10.26.564192

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