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Article

A new model to study neurodegeneration in ataxia oculomotor apraxia type 2.

Human molecular genetics - 15 Oct 2015

Becherel Olivier J, Sun Jane, Yeo Abrey J, Nayler Sam, Fogel Brent L, Gao Fuying, Coppola Giovanni, Criscuolo Chiara, De Michele Giuseppe, Wolvetang Ernst, Lavin Martin F

Abstract excerpt

Ataxia oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia. Recent evidence suggests that the protein defective in this syndrome, senataxin (SETX), functions in RNA processing to protect the integrity of the genome. To date, only patient-derived lymphoblastoid cells, fibroblasts and SETX knockdown cells were available to investigate AOA2. Recent disruption of the Setx gene in mice did...

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Identifiers

PMID: 26231220
DOI: 10.1093/hmg/ddv296
PMCID: PMC4581605

Genes

SETX

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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