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...

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Vydáno v:J Biol Chem
Hlavní autoři: Madrigal, Sabrina C., McNeil, Zipporah, Sanchez-Hodge, Rebekah, Shi, Chang-he, Patterson, Cam, Scaglione, Kenneth Matthew, Schisler, Jonathan C.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2019
Témata:
Molecular Bases of Disease
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6916485/
https://ncbi.nlm.nih.gov/pubmed/31619515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA119.011173
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