Article
Disease-associated mutations in C-terminus of HSP70 interacting protein (CHIP) impair its ability to negatively regulate mitophagy.
Neurobiology of disease - 1 Oct 2024
Earnshaw Rebecca, Zhang Yu Tong, Heymann Gregory, Fujisawa Kazuko, Hui Sarah, Kapadia Minesh, Kalia Lorraine V, Kalia Suneil K
Abstract excerpt
C-terminus of HSP70 interacting protein (CHIP) is an E3 ubiquitin ligase and HSP70 cochaperone. Mutations in the CHIP encoding gene are the cause of two neurodegenerative conditions: spinocerebellar ataxia autosomal dominant type 48 (SCA48) and autosomal recessive type 16 (SCAR16). The mechanisms underlying CHIP-associated diseases are currently unknown. Mitochondrial dysfunction, specifically dysfunction in...
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