Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Aprataxin, a novel protein that protects against genotoxic stress

17 Mar 2004

Abstract excerpt

Ataxia-oculomotor apraxia (AOA1) is a neurological disorder with symptoms that overlap those of ataxia-telangiectasia, a syndrome characterized by abnormal responses to double-strand DNA breaks and genome instability. The gene mutated in AOA1, APTX, is predicted to code for a protein called aprataxin that contains domains of homology with proteins involved in DNA damage signalling and repair. We demonstrate that...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cancer-related Molecular Pathways
Share to DNA Repair Mechanisms
Share to Genetic Neurodegenerative Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 15044383
DOI: 10.1093/hmg/ddh122

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Aprataxin, a novel protein that protects against genotoxic stressPMID 15044383Read ↗

DNA single-strand break repair is impaired in aprataxin-related ataxia.Semantic proximity Read ↗

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.Semantic proximity Read ↗

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

Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing.Semantic proximity Read ↗

Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damageSemantic proximity Read ↗

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.Semantic proximity Read ↗

Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxinSemantic proximity Read ↗

Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.Semantic proximity Read ↗

Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.Semantic proximity Read ↗

A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.Semantic proximity Read ↗

Structure of an aprataxin-DNA complex with insights into AOA1 neurodegenerative disease.Semantic proximity Read ↗

CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.