In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins

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 m...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2017
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408658/
https://www.ncbi.nlm.nih.gov/pubmed/28396517
http://dx.doi.org/10.1042/BSR20170251

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