The novel human gene aprataxin is directly involved in DNA single-strand-break repair
The cells of an ataxia-oculomotor apraxia type 1 (AOA1) patient, homozygous for a new
aprataxin mutation (T739C), were treated with camptothecin, an inhibitor of DNA …
aprataxin mutation (T739C), were treated with camptothecin, an inhibitor of DNA …
Aprataxin, a novel protein that protects against genotoxic stress
Abstract Ataxia-oculomotor apraxia (AOA1) is a neurological disorder with symptoms that
overlap those of ataxia-telangiectasia, a syndrome characterized by abnormal responses to …
overlap those of ataxia-telangiectasia, a syndrome characterized by abnormal responses to …
Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3′-phosphate and 3′-phosphoglycolate ends
T Takahashi, M Tada, S Igarashi, A Koyama… - Nucleic acids …, 2007 - academic.oup.com
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 …
hypoalbuminemia/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), the clinical …
Aprataxin localizes to mitochondria and preserves mitochondrial function
P Sykora, DL Croteau, VA Bohr… - Proceedings of the …, 2011 - National Acad Sciences
Ataxia with oculomotor apraxia 1 is caused by mutation in the APTX gene, which encodes
the DNA strand-break repair protein aprataxin. Aprataxin exhibits homology to the histidine …
the DNA strand-break repair protein aprataxin. Aprataxin exhibits homology to the histidine …
Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities
Ataxia with oculomotor apraxia type 1 (AOA1) is an early onset autosomal recessive
spinocerebellar ataxia with a defect in the protein Aprataxin, implicated in the response of …
spinocerebellar ataxia with a defect in the protein Aprataxin, implicated in the response of …
Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage
JL Harris, B Jakob, G Taucher-Scholz… - Human molecular …, 2009 - academic.oup.com
Aprataxin, defective in the neurodegenerative disorder ataxia oculomotor apraxia type 1
(AOA1), is a DNA repair protein that processes the product of abortive ligations, 5 …
(AOA1), is a DNA repair protein that processes the product of abortive ligations, 5 …
Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1
JJ Reynolds, SF El-Khamisy, S Katyal… - … and cellular biology, 2009 - Taylor & Francis
Ataxia oculomotor apraxia 1 (AOA1) results from mutations in aprataxin, a component of
DNA strand break repair that removes AMP from 5′ termini. Despite this, global rates of …
DNA strand break repair that removes AMP from 5′ termini. Despite this, global rates of …
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization
M Ferrarini, G Squintani, T Cavallaro, S Ferrari… - Journal of the …, 2007 - Elsevier
Ataxia oculomotor apraxia type 1 (AOA1) is the most common form of autosomal recessive
ataxia in Japan, and the second in Portugal after Friedreich ataxia. AOA1 is typically …
ataxia in Japan, and the second in Portugal after Friedreich ataxia. AOA1 is typically …
[HTML][HTML] Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin
SF El-Khamisy, S Katyal, P Patel, L Ju, PJ McKinnon… - DNA repair, 2009 - Elsevier
Ataxia oculomotor apraxia-1 (AOA1) is an autosomal recessive neurodegenerative disease
that results from mutations of aprataxin (APTX). APTX associates with the DNA single-and …
that results from mutations of aprataxin (APTX). APTX associates with the DNA single-and …
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
PM Clements, C Breslin, ED Deeks, PJ Byrd, L Ju… - DNA repair, 2004 - Elsevier
Ataxia–oculomotor apraxia 1 (AOA1) is an autosomal recessive neurodegenerative disease
that is reminiscent of ataxia–telangiectasia (A–T). AOA1 is caused by mutations in the gene …
that is reminiscent of ataxia–telangiectasia (A–T). AOA1 is caused by mutations in the gene …