Article
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.
Bioscience reports - 30 Apr 2017
Pakdaman Yasaman, Sanchez-Guixé Monica, Kleppe Rune, Erdal Sigrid, Bustad Helene J, Bjørkhaug Lise, Haugarvoll Kristoffer, Tzoulis Charalampos, Heimdal Ketil, Knappskog Per M, Johansson Stefan, Aukrust Ingvild
Abstract excerpt
Spinocerebellar ataxia, autosomal recessive 16 (SCAR16) is caused by biallelic mutations in the STIP1 homology and U-box containing protein 1 (STUB1) gene encoding the ubiquitin E3 ligase and dimeric co-chaperone C-terminus of Hsc70-interacting protein (CHIP). It has been proposed that the disease mechanism is related to CHIP's impaired E3 ubiquitin ligase properties and/or interaction with its chaperones....
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