Changes in protein function underlie the disease spectrum in patients with CHIP mutations

Monogenetic disorders that cause cerebellar ataxia are characterized by defects in gait and atrophy of the cerebellum; however, patients often suffer from a spectrum of disease, complicating treatment options. Spinocerebellar ataxia autosomal recessive 16 (SCAR16) is caused by coding mutations in ST...

Descripción completa

Detalles Bibliográficos
Autores principales: Madrigal, Sabrina C., McNeil, Zipporah, Sanchez-Hodge, Rebekah, Shi, Chang-he, Patterson, Cam, Scaglione, Kenneth Matthew, Schisler, Jonathan C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2019
Materias:
Molecular Bases of Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6916485/
https://www.ncbi.nlm.nih.gov/pubmed/31619515
http://dx.doi.org/10.1074/jbc.RA119.011173

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6916485/
https://www.ncbi.nlm.nih.gov/pubmed/31619515
http://dx.doi.org/10.1074/jbc.RA119.011173

Ejemplares similares