The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP

The spinocerebellar ataxias (SCAs) are a class of incurable diseases characterized by degeneration of the cerebellum that results in movement disorder. Recently, a new heritable form of SCA, spinocerebellar ataxia type 48 (SCA48), was attributed to dominant mutations in STIP1 homology and U box-cont...

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Detalles Bibliográficos
Autores principales: Umano, A., Fang, K., Qu, Z., Scaglione, J.B., Altinok, S., Treadway, C.J., Wick, E.T., Paulakonis, E., Karunanayake, C., Chou, S., Bardakjian, T.M., Gonzalez-Alegre, P., Page, R.C., Schisler, J.C., Brown, N.G., Yan, D., Scaglione, K.M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097460/
https://www.ncbi.nlm.nih.gov/pubmed/35398354
http://dx.doi.org/10.1016/j.jbc.2022.101899

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