Article
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.
Human molecular genetics - 1 Sept 2005
Sriram Sathya R, Li Xiaojie, Ko Han Seok, Chung Kenny K K, Wong Esther, Lim Kah Leong, Dawson Valina L, Dawson Ted M
Abstract excerpt
Mutations in parkin are largely associated with autosomal recessive juvenile parkinsonism. The underlying mechanism of pathogenesis in parkin-associated Parkinson's disease (PD) is thought to be due to the loss of parkin's E3 ubiquitin ligase activity. A subset of missense and nonsense point mutations in parkin that span the entire gene and represent the numerous inheritance patterns that are associated with...
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