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Article

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

Human molecular genetics - 15 Sept 2014

Fogel Brent L, Cho Ellen, Wahnich Amanda, Gao Fuying, Becherel Olivier J, Wang Xizhe, Fike Francesca, Chen Leslie, Criscuolo Chiara, De Michele Giuseppe, Filla Alessandro, Collins Abigail, Hahn Angelika F, Gatti Richard A, Konopka Genevieve, Perlman Susan, Lavin Martin F, Geschwind Daniel H, Coppola Giovanni

Abstract excerpt

Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4). To...

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Identifiers

PMID: 24760770
DOI: 10.1093/hmg/ddu190
PMCID: PMC4140459

Genes

SETX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24760770-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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