Disease on EC 3.6.1.71 - adenosine-5'-diphospho-5'-[DNA] diphosphatase
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adenosine-5'-diphospho-5'-[dna] diphosphatase deficiency
Complementation of aprataxin deficiency by base excision repair enzymes in mitochondrial extracts.
adenosine-5'-diphospho-5'-[dna] diphosphatase deficiency
Complementation of aprataxin deficiency by base excision repair enzymes.
adenosine-5'-diphospho-5'-[dna] diphosphatase deficiency
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
adenosine-5'-diphospho-5'-[dna] diphosphatase deficiency
Role of polymerase ? in complementing aprataxin deficiency during abasic-site base excision repair.
Apraxias
A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment.
Apraxias
A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.
Apraxias
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.
Apraxias
Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities.
Apraxias
Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.
Apraxias
Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.
Apraxias
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Apraxias
CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response.
Apraxias
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Apraxias
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
Apraxias
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.
Apraxias
Congenital ocular motor apraxia associated with idiopathic generalized epilepsy in monozygotic twins.
Apraxias
Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1.
Apraxias
Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells.
Apraxias
Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
Apraxias
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
Apraxias
Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing.
Apraxias
Genetic interactions between HNT3/Aprataxin and RAD27/FEN1 suggest parallel pathways for 5' end processing during base excision repair.
Apraxias
Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
Apraxias
Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases.
Apraxias
Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Apraxias
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
Apraxias
Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin.
Apraxias
Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.
Apraxias
Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Apraxias
Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription.
Apraxias
Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene.
Apraxias
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
Apraxias
The novel human gene aprataxin is directly involved in DNA single-strand-break repair.
Apraxias
Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.
Ataxia
A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment.
Ataxia
A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.
Ataxia
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.
Ataxia
Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.
Ataxia
Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities.
Ataxia
Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.
Ataxia
Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.
Ataxia
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Ataxia
CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response.
Ataxia
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Ataxia
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.
Ataxia
Congenital ocular motor apraxia associated with idiopathic generalized epilepsy in monozygotic twins.
Ataxia
Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1.
Ataxia
Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells.
Ataxia
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
Ataxia
Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing.
Ataxia
Genetic interactions between HNT3/Aprataxin and RAD27/FEN1 suggest parallel pathways for 5' end processing during base excision repair.
Ataxia
Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
Ataxia
Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Ataxia
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
Ataxia
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
Ataxia
Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin.
Ataxia
Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.
Ataxia
Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Ataxia
Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription.
Ataxia
Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene.
Ataxia
Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.
Ataxia
Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin.
Ataxia
The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates.
Ataxia
Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.
Ataxia Telangiectasia
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
Ataxia Telangiectasia
Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.
Cerebellar Ataxia
Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.
Cerebellar Ataxia
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Cerebellar Ataxia
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
Cerebellar Ataxia
Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
Cerebellar Ataxia
Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress.
Cerebellar Ataxia
[Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia]
Colorectal Neoplasms
Aprataxin tumor levels predict response of colorectal cancer patients to irinotecan-based treatment.
Dystonia
Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation.
Friedreich Ataxia
Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.
Hypoalbuminemia
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
Hypoalbuminemia
Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Hypoalbuminemia
Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Hypoalbuminemia
Short half-lives of ataxia-associated aprataxin proteins in neuronal cells.
Intellectual Disability
Screening a genome-wide S. pombe deletion library identifies novel genes and pathways involved in genome stability maintenance.
Multiple System Atrophy
Aprataxin (APTX) gene mutations resembling multiple system atrophy.
Neoplasm Metastasis
Histone chaperone APLF level dictates the implantation of mouse embryos.
Neoplasms
Aprataxin tumor levels predict response of colorectal cancer patients to irinotecan-based treatment.
Neoplasms
miR-424 acts as a tumor radiosensitizer by targeting aprataxin in cervical cancer.
Neoplasms
Rap GTPase Interactor: A Potential Marker for Cancer Prognosis Following Kidney Transplantation.
Nervous System Diseases
Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.
Nervous System Diseases
Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription.
Nervous System Diseases
The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates.
Neuroblastoma
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
Neurodegenerative Diseases
Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.
Neurodegenerative Diseases
CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response.
Neurodegenerative Diseases
Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Neurodegenerative Diseases
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
Neurodegenerative Diseases
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1.
Neurodegenerative Diseases
Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin.
Neurodegenerative Diseases
The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates.
Spinocerebellar Ataxias
Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities.
Spinocerebellar Ataxias
Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells.
Spinocerebellar Degenerations
Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
Uterine Cervical Neoplasms
miR-424 acts as a tumor radiosensitizer by targeting aprataxin in cervical cancer.
Xeroderma Pigmentosum
Inhibition of poly(ADP-ribose)polymerase-1 and DNA repair by uranium.
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