Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
about
CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage responseActions of aprataxin in multiple DNA repair pathwaysAPLF (C2orf13) is a novel human protein involved in the cellular response to chromosomal DNA strand breaksAprataxin, 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 activitiesSenataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damageDNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiencyEukaryotic DNA ligases: structural and functional insightsPartial complementation of a DNA ligase I deficiency by DNA ligase III and its impact on cell survival and telomere stability in mammalian cellsAdenosine monophosphoramidase activity of Hint and Hnt1 supports function of Kin28, Ccl1, and Tfb3Two DNA-binding and nick recognition modules in human DNA ligase IIIHint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferasesMolecular mechanism of DNA deadenylation by the neurological disease protein aprataxinDefective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1Molecular pathology of ataxia telangiectasiaFeminizing chicks: a model for avian sex determination based on titration of Hint enzyme activity and the predicted structure of an Asw-Hint heterodimerControl of dinucleoside polyphosphates by the FHIT-homologous HNT2 gene, adenine biosynthesis and heat shock in Saccharomyces cerevisiae.The Response to Oxidative DNA Damage in Neurons: Mechanisms and Disease'Medusa head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 2: Anti-PKC-gamma, anti-GluR-delta2, anti-Ca/ARHGAP26 and anti-VGCCSomatic mosaicism in the human genomePathways for repairing and tolerating the spectrum of oxidative DNA lesionsMitochondrial DNA damage and its consequences for mitochondrial gene expressionRepair of persistent strand breaks in the mitochondrial genomeHigh-resolution X-ray structure of the rabbit histidine triad nucleotide-binding protein 1 (rHINT1)-adenosine complex at 1.10 Å resolutionCrystal structures of aprataxin ortholog Hnt3 reveal the mechanism for reversal of 5'-adenylated DNAStructure of an aprataxin–DNA complex with insights into AOA1 neurodegenerative diseaseAprataxin resolves adenylated RNA–DNA junctions to maintain genome integrityGenetic interactions between HNT3/Aprataxin and RAD27/FEN1 suggest parallel pathways for 5' end processing during base excision repairMutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathyHint2, a mitochondrial apoptotic sensitizer down-regulated in hepatocellular carcinomaThe histidine triad protein Hint is not required for murine development or Cdk7 functionFine mapping under linkage peaks for symptomatic or asymptomatic outcomes of Leishmania infantum infection in Brazil.X-ray repair cross complementing protein 1 in base excision repair.Resonance assignment for a particularly challenging protein based on systematic unlabeling of amino acids to complement incomplete NMR data sets.Systems biology analysis of Drosophila in vivo screen data elucidates core networks for DNA damage repair in SCA1.A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment.Aberrant topoisomerase-1 DNA lesions are pathogenic in neurodegenerative genome instability syndromesClinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.Past, present and future therapeutics for cerebellar ataxias.
P2860
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P2860
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
description
2001 nî lūn-bûn
@nan
2001 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Early-onset ataxia with ocular ...... in a new HIT superfamily gene
@ast
Early-onset ataxia with ocular ...... in a new HIT superfamily gene
@en
Early-onset ataxia with ocular ...... in a new HIT superfamily gene
@nl
type
label
Early-onset ataxia with ocular ...... in a new HIT superfamily gene
@ast
Early-onset ataxia with ocular ...... in a new HIT superfamily gene
@en
Early-onset ataxia with ocular ...... in a new HIT superfamily gene
@nl
prefLabel
Early-onset ataxia with ocular ...... in a new HIT superfamily gene
@ast
Early-onset ataxia with ocular ...... in a new HIT superfamily gene
@en
Early-onset ataxia with ocular ...... in a new HIT superfamily gene
@nl
P2093
P356
P1433
P1476
Early-onset ataxia with ocular ...... in a new HIT superfamily gene
@en
P2093
H Nagatomo
K Iwabuchi
M Nishizawa
N Fukuhara
P2888
P356
10.1038/NG1001-184
P407
P577
2001-10-01T00:00:00Z