Aprataxin

Aprataxin, also known as APTX, is a human gene.cite web | title = Entrez Gene: APTX aprataxin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54840| accessdate = ]

PBB_Summary
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summary_text = This gene encodes a member of the histidine triad (HIT) superfamily, some of which have nucleotide-binding and diadenosine polyphosphate hydrolase activities. The encoded protein may play a role in single-stranded DNA repair. Mutations in this gene have been associated with ataxia-ocular apraxia. Multiple transcript variants encoding distinct isoforms have been identified for this gene, however, the full length nature of some variants has not been determined.cite web | title = Entrez Gene: APTX aprataxin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54840| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Aicardi J, Barbosa C, Andermann E, "et al." |title=Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. |journal=Ann. Neurol. |volume=24 |issue= 4 |pages= 497–502 |year= 1989 |pmid= 3239952 |doi= 10.1002/ana.410240404
*cite journal | author=Gascon GG, Abdo N, Sigut D, "et al." |title=Ataxia-oculomotor apraxia syndrome. |journal=J. Child Neurol. |volume=10 |issue= 2 |pages= 118–22 |year= 1995 |pmid= 7782601 |doi=
*cite journal | author=Hannan MA, Sigut D, Waghray M, Gascon GG |title=Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families. |journal=J. Med. Genet. |volume=31 |issue= 12 |pages= 953–6 |year= 1995 |pmid= 7891378 |doi=
*cite journal | author=Moreira MC, Barbot C, Tachi N, "et al." |title=Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. |journal=Am. J. Hum. Genet. |volume=68 |issue= 2 |pages= 501–8 |year= 2001 |pmid= 11170899 |doi=
*cite journal | author=Date H, Onodera O, Tanaka H, "et al." |title=Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. |journal=Nat. Genet. |volume=29 |issue= 2 |pages= 184–8 |year= 2001 |pmid= 11586299 |doi= 10.1038/ng1001-184
*cite journal | author=Moreira MC, Barbot C, Tachi N, "et al." |title=The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. |journal=Nat. Genet. |volume=29 |issue= 2 |pages= 189–93 |year= 2001 |pmid= 11586300 |doi= 10.1038/ng1001-189
*cite journal | author=Brenner C |title=Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases. |journal=Biochemistry |volume=41 |issue= 29 |pages= 9003–14 |year= 2002 |pmid= 12119013 |doi=
*cite journal | author=Shimazaki H, Takiyama Y, Sakoe K, "et al." |title=Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. |journal=Neurology |volume=59 |issue= 4 |pages= 590–5 |year= 2002 |pmid= 12196655 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Tranchant C, Fleury M, Moreira MC, "et al." |title=Phenotypic variability of aprataxin gene mutations. |journal=Neurology |volume=60 |issue= 5 |pages= 868–70 |year= 2004 |pmid= 12629250 |doi=
*cite journal | author=Le Ber I, Moreira MC, Rivaud-Péchoux S, "et al." |title=Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. |journal=Brain |volume=126 |issue= Pt 12 |pages= 2761–72 |year= 2003 |pmid= 14506070 |doi= 10.1093/brain/awg283
*cite journal | author=Sekijima Y, Hashimoto T, Onodera O, "et al." |title=Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation. |journal=Mov. Disord. |volume=18 |issue= 10 |pages= 1198–200 |year= 2004 |pmid= 14534929 |doi= 10.1002/mds.10526
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Sano Y, Date H, Igarashi S, "et al." |title=Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein. |journal=Ann. Neurol. |volume=55 |issue= 2 |pages= 241–9 |year= 2004 |pmid= 14755728 |doi= 10.1002/ana.10808
*cite journal | author=Gueven N, Becherel OJ, Kijas AW, "et al." |title=Aprataxin, a novel protein that protects against genotoxic stress. |journal=Hum. Mol. Genet. |volume=13 |issue= 10 |pages= 1081–93 |year= 2004 |pmid= 15044383 |doi= 10.1093/hmg/ddh122
*cite journal | author=Humphray SJ, Oliver K, Hunt AR, "et al." |title=DNA sequence and analysis of human chromosome 9. |journal=Nature |volume=429 |issue= 6990 |pages= 369–74 |year= 2004 |pmid= 15164053 |doi= 10.1038/nature02465
*cite journal | author=Habeck M, Zühlke C, Bentele KH, "et al." |title=Aprataxin mutations are a rare cause of early onset ataxia in Germany. |journal=J. Neurol. |volume=251 |issue= 5 |pages= 591–4 |year= 2004 |pmid= 15164193 |doi= 10.1007/s00415-004-0374-7
*cite journal | author=Hirano M, Nishiwaki T, Kariya S, "et al." |title=Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia. |journal=Neurosci. Lett. |volume=366 |issue= 2 |pages= 120–5 |year= 2004 |pmid= 15276230 |doi= 10.1016/j.neulet.2004.05.034
*cite journal | author=Amouri R, Moreira MC, Zouari M, "et al." |title=Aprataxin gene mutations in Tunisian families. |journal=Neurology |volume=63 |issue= 5 |pages= 928–9 |year= 2005 |pmid= 15365154 |doi=
*cite journal | author=Clements PM, Breslin C, Deeks ED, "et al." |title=The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4. |journal=DNA Repair (Amst.) |volume=3 |issue= 11 |pages= 1493–502 |year= 2005 |pmid= 15380105 |doi= 10.1016/j.dnarep.2004.06.017

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