Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
about
Actions of aprataxin in multiple DNA repair pathwaysAprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate endsAprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activitiesDefective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1Mitochondrial DNA damage and its consequences for mitochondrial gene expressionRepair of persistent strand breaks in the mitochondrial genomeHint2, a mitochondrial apoptotic sensitizer down-regulated in hepatocellular carcinomaCorrelating disease-related mutations to their effect on protein stability: a large-scale analysis of the human proteome.Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.DNA repair deficiency in neurodegeneration.On the effect of protein conformation diversity in discriminating among neutral and disease related single amino acid substitutions.Neurological disorders associated with DNA strand-break processing enzymes.Variation in base excision repair capacity.Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.Identification of activating enzymes of a novel FBPase inhibitor prodrug, CS-917.DNA3'pp5'G de-capping activity of aprataxin: effect of cap nucleoside analogs and structural basis for guanosine recognition.DNA repair deficiency and neurological disease.To live or to die: a matter of processing damaged DNA termini in neurons.Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin.Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.Genome integrity and disease prevention in the nervous system.Caught with One's Zinc Fingers in the Genome Integrity Cookie Jar.Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
P2860
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P2860
Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
@en
type
label
Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
@en
prefLabel
Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
@en
P2860
P356
P1476
Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
@en
P2093
Heather F Seidle
P2860
P304
20927-20931
P356
10.1074/JBC.M502889200
P407
P577
2005-03-23T00:00:00Z