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Article

DNA single-strand break repair is impaired in aprataxin-related ataxia.

Annals of neurology - 1 Feb 2007

Hirano Makito, Yamamoto Aya, Mori Toshio, Lan Li, Iwamoto Taka-aki, Aoki Masashi, Shimada Keiji, Furiya Yoshiko, Kariya Shingo, Asai Hirohide, Yasui Akira, Nishiwaki Tomohisa, Imoto Kyoko, Kobayashi Nobuhiko, Kiriyama Takao, Nagata Tetsuya, Konishi Noboru, Itoyama Yasuto, Ueno Satoshi

Abstract excerpt

OBJECTIVE: Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive form of cerebellar ataxia. The causative protein for EAOH/AOA1, aprataxin (APTX), interacts with X-ray repair cross-complementing 1 (XRCC1), a scaffold DNA repair protein for single-strand breaks (SSBs). The goal of this study was to prove the functional...

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Source

Identifiers

PMID: 17315206
DOI: 10.1002/ana.21078

Genes

APTX
XRCC1
SSB
XPA

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

DNA single-strand break repair is impaired in aprataxin-related ataxia.PMID 17315206Read ↗

Aprataxin, a novel protein that protects against genotoxic stressSemantic proximity Read ↗

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.Semantic proximity Read ↗

Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.Semantic proximity Read ↗

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.Semantic proximity Read ↗

Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damageSemantic proximity Read ↗

Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.Semantic proximity Read ↗

A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.Semantic proximity Read ↗

A new model to study neurodegeneration in ataxia oculomotor apraxia type 2.Semantic proximity Read ↗

Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing.Semantic proximity Read ↗

Short-patch single-strand break repair in ataxia oculomotor apraxia-1.Semantic proximity Read ↗

Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene.Semantic proximity Read ↗

The ataxia–oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4Semantic proximity Read ↗

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