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Article

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

The Journal of biological chemistry - 1 May 2022

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

Abstract excerpt

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-containing 1 (STUB1); however, little is known about how these mutations cause SCA48. STUB1 encodes for the protein C...

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Identifiers

PMID: 35398354
DOI: 10.1016/j.jbc.2022.101899
PMCID: PMC9097460

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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