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Article

The role of interruptions in polyQ in the pathology of SCA1.

PLoS genetics - 1 Jan 2013

Menon Rajesh P, Nethisinghe Suran, Faggiano Serena, Vannocci Tommaso, Rezaei Human, Pemble Sally, Sweeney Mary G, Wood Nicholas W, Davis Mary B, Pastore Annalisa, Giunti Paola

Abstract excerpt

At least nine dominant neurodegenerative diseases are caused by expansion of CAG repeats in coding regions of specific genes that result in abnormal elongation of polyglutamine (polyQ) tracts in the corresponding gene products. When above a threshold that is specific for each disease the expanded...

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Source

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Identifiers

PMID: 23935513
DOI: 10.1371/journal.pgen.1003648
PMCID: PMC3723530

Genes

CAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23935513-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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