Article
Parkin R274W mutation affects muscle and mitochondrial physiology.
Biochimica et biophysica acta. Molecular basis of disease - 1 Oct 2024
Sevegnani Martina, Lama Adriano, Girardi Francesco, Hess Michael W, Castelo Maria Paulina, Pichler Irene, Biressi Stefano, Piccoli Giovanni
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. In 2001, the R275W mutation in the PRKN gene was identified in two unrelated families with a...
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