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Article

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

Nucleic acids research - 1 Jan 2007

Takahashi Tetsuya, Tada Masayoshi, Igarashi Shuichi, Koyama Akihide, Date Hidetoshi, Yokoseki Akio, Shiga Atsushi, Yoshida Yutaka, Tsuji Shoji, Nishizawa Masatoyo, Onodera Osamu

Abstract excerpt

Aprataxin is the causative gene product for early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), the clinical symptoms of which are predominantly neurological. Although aprataxin has been suggested to be related to DNA single-strand b...

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Identifiers

PMID: 17519253
DOI: 10.1093/nar/gkm158
PMCID: PMC1920238

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17519253-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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