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Article

Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 27 Sept 2006

He Yungui, Zu Tao, Benzow Kellie A, Orr Harry T, Clark H Brent, Koob Michael D

Abstract excerpt

Spinocerebellar ataxia type 8 (SCA8) patients typically have a slowly progressive, adult-onset ataxia. SCA8 is dominantly inherited and is caused by large CTG repeat expansions in the untranslated antisense RNA of the Kelch-like 1 gene (KLHL1), but the molecular mechanism through which this expansion leads to disease is still unknown. To more fully characterize the underlying molecular mechanisms involved in...

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Identifiers

PMID: 17005861
DOI: 10.1523/JNEUROSCI.2595-06.2006
PMCID: PMC6674467

Genes

KLHL1

Provenance

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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