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Article

Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1.

The Journal of clinical investigation - 1 Jun 2018

Edamakanti Chandrakanth Reddy, Do Jeehaeh, Didonna Alessandro, Martina Marco, Opal Puneet

Abstract excerpt

Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disease caused by a polyglutamine expansion in the protein ATXN1, which is involved in transcriptional regulation. Although symptoms appear relatively late in life, primarily from cerebellar dysfunction, pathogenesis begins early, with transcriptional changes detectable as early as a week after birth in SCA1-knockin mice. Given the...

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Source

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Identifiers

PMID: 29533923
DOI: 10.1172/JCI96765
PMCID: PMC5983343

Genes

ATXN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1.PMID 29533923Read ↗

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