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Search references for APRATAXIN. Phrases containing APRATAXIN
See searches and references containing APRATAXIN!APRATAXIN
Protein-coding gene in the species Homo sapiens
Aprataxin is a protein that in humans is encoded by the APTX gene. This gene encodes a member of the histidine triad (HIT) superfamily, some of which
Aprataxin
Medical condition
years since the onset of the symptoms. APTX gene codes for the protein Aprataxin, which might help DNA repair by the removal of adenylate groups from 5′-phosphate
Ataxia with oculomotor apraxia type 1
Ataxia_with_oculomotor_apraxia_type_1
Absence or defect of controlled, voluntary, and purposeful eye movement
old in 2004.</ref needed> Mutations in the gene APTX, which encodes for aprataxin, have been identified to be responsible for AOA1. Elevated creatine kinase
Oculomotor_apraxia
Rare neurodegenerative disease
age to those having A–T. A mutation in the gene coding for the protein aprataxin causes the condition. Affected individuals differ from those with A–T
Ataxia–telangiectasia
Mammalian protein found in humans
Becherel OJ, Kijas AW, Chen P, Howe O, Rudolph JH, et al. (May 2004). "Aprataxin, a novel protein that protects against genotoxic stress". Human Molecular
P53
Protein-coding gene in the species Homo sapiens
intermediate incapable of being fixed without the aid of a phosphodiesterase. Aprataxin (a phosphodiesterase) has been shown to act on aborted DNA intermediates
DNA_ligase_1
Protein family
it is believed to bind non-covalently, while in other cases (such as Aprataxin) it appears to bind both non-covalently through a zinc finger motif, and
Macro_domain
Protein
excision repair), aprataxin (active in single-strand DNA repair and non-homologous end joining) and a third protein designated aprataxin- and PNKP-like factor
XRCC1
Protein-coding gene in the species Homo sapiens
McKinnon PJ, et al. (October 2006). "The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates". Nature. 443 (7112): 713–716
DNA_ligase_3
British biochemist and molecular biologist
for the association RAD51 with DNA. His laboratory also discovered that Aprataxin, which is defective in a progressive neurological disorder known as Oculomotor
Stephen_C._West
Medical condition
oxidative stress. Mutant ALADIN also causes decreased nuclear import of aprataxin, a repair protein for DNA single-strand breaks, and DNA ligase I. These
Triple-A_syndrome
Pathway that repairs double-strand breaks in DNA
Ligase IV XRCC4 XLF Artemis DNA polymerase mu DNA polymerase lambda PNKP Aprataxin APLF BRCA1 BRCA2 CYREN Chou, Shih-Jie; Yang, Peng; Ban, Qian; Yang, Yi-Ping;
Non-homologous_end_joining
Family of proteins that form the nuclear pore complex
hypersensitivity to oxidative stress. The import of DNA repair proteins aprataxin and DNA ligase I is selectively decreased, and this may increase the vulnerability
Nucleoporin
Mammalian protein found in Homo sapiens
Becherel OJ, Kijas AW, Chen P, Howe O, Rudolph JH, et al. (May 2004). "Aprataxin, a novel protein that protects against genotoxic stress". Human Molecular
PARP1
Nuclear envelope protein
oxidative stress. Mutant aladin also causes decreased nuclear import of aprataxin, a repair protein for single-strand breaks, and DNA ligase I, employed
Aladin_(protein)
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