aprataxin isoform i [Homo sapiens]

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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. [Stem Cell Res. 2020]
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.
Ababneh NA, Al-Kurdi B, Ali D, Abuarqoub D, Barham R, Alzibdeh AM, Khanfar AN, Altantawi AM, Ryalat AT, Sharrack B, et al. Stem Cell Res. 2020 Oct; 48:101925. Epub 2020 Jul 25.
Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents. [PLoS One. 2020]
Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents.
Ababneh NA, Ali D, Al-Kurdi B, Sallam M, Alzibdeh AM, Salah B, Ryalat AT, Azab B, Sharrack B, Awidi A. PLoS One. 2020; 15(8):e0236808. Epub 2020 Aug 4.
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease. [EMBO J. 2018]
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
Tumbale P, Schellenberg MJ, Mueller GA, Fairweather E, Watson M, Little JN, Krahn J, Waddell I, London RE, Williams RS. EMBO J. 2018 Jul 13; 37(14). Epub 2018 Jun 22.

RefSeq genomic sequence
See the genomic reference sequence for the APTX gene (NG_012821.2).
RefSeq mRNA
See reference mRNA sequence for the APTX gene (NM_001195252.2).
RefSeq protein isoforms
See 23 reference sequence protein isoforms for the APTX gene.

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NP_001182181 [Domain Mapping of Disease Mut...]
NP_001182181
Domain Mapping of Disease Mutations
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