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Article

Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics.

Human molecular genetics - 1 Nov 2003

Scheel Hartmut, Tomiuk Stefan, Hofmann Kay

Abstract excerpt

The spinocerebellar ataxias (SCAs) are a class of hereditary neurodegenerative diseases, which are caused by the pathological expansion of unstable CAG triplet repeats found in a number of apparently unrelated genes. The proteins encoded by the SCA genes typically translate this expanded (CAG)n repeat into an expanded poly(Q) stretch. Several pathological features are common to all SCAs, irrespective of the gene...

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Identifiers

PMID: 12944423
DOI: 10.1093/hmg/ddg297

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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