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Disease on EC 3.6.1.71 - adenosine-5'-diphospho-5'-[DNA] diphosphatase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
adenosine-5'-diphospho-5'-[dna] diphosphatase deficiency
Complementation of aprataxin deficiency by base excision repair enzymes in mitochondrial extracts.
Complementation of aprataxin deficiency by base excision repair enzymes.
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
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.
A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.
Aprataxin (APTX) gene mutations resembling multiple system atrophy.
Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities.
Aprataxin gene mutations in Tunisian families.
Aprataxin localizes to mitochondria and preserves mitochondrial function.
Aprataxin mutations are a rare cause of early onset ataxia in Germany.
Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.
Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Autosomal recessive cerebellar ataxias.
CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response.
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.
Congenital ocular motor apraxia associated with idiopathic generalized epilepsy in monozygotic twins.
Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1.
Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells.
Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing.
Familial cognitive impairment with ataxia with oculomotor apraxia.
Genetic interactions between HNT3/Aprataxin and RAD27/FEN1 suggest parallel pathways for 5' end processing during base excision repair.
Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases.
Hit proteins, mitochondria and cancer.
Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin.
Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1.
Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription.
Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene.
Short half-lives of ataxia-associated aprataxin proteins in neuronal cells.
The FHA domain of aprataxin interacts with the C-terminal region of XRCC1.
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
The novel human gene aprataxin is directly involved in DNA single-strand-break repair.
Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.
[Molecular mechanism for spinocerebellar ataxias]
Ataxia
A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment.
A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.
Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.
Aprataxin (APTX) gene mutations resembling multiple system atrophy.
Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities.
Aprataxin localizes to mitochondria and preserves mitochondrial function.
Aprataxin mutations are a rare cause of early onset ataxia in Germany.
Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.
Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Autosomal recessive cerebellar ataxias.
CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response.
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.
Congenital ocular motor apraxia associated with idiopathic generalized epilepsy in monozygotic twins.
Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1.
Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells.
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing.
Familial cognitive impairment with ataxia with oculomotor apraxia.
Genetic interactions between HNT3/Aprataxin and RAD27/FEN1 suggest parallel pathways for 5' end processing during base excision repair.
Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
Hit proteins, mitochondria and cancer.
Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin.
Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.
Neurodegeneration: nicked to death.
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1.
Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription.
Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene.
Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.
Short half-lives of ataxia-associated aprataxin proteins in neuronal cells.
Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin.
The FHA domain of aprataxin interacts with the C-terminal region of XRCC1.
The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates.
Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.
[Molecular mechanism for spinocerebellar ataxias]
Ataxia Telangiectasia
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.
Breast Neoplasms
Histone chaperone APLF level dictates the implantation of mouse embryos.
Cerebellar Ataxia
Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.
Aprataxin gene mutations in Tunisian families.
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress.
[Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia]
Cockayne Syndrome
Repair of persistent strand breaks in the mitochondrial genome.
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.
Autosomal recessive cerebellar ataxias.
Hypoalbuminemia
Aprataxin (APTX) gene mutations resembling multiple system atrophy.
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Short half-lives of ataxia-associated aprataxin proteins in neuronal cells.
The FHA domain of aprataxin interacts with the C-terminal region of XRCC1.
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.
miR-424 acts as a tumor radiosensitizer by targeting aprataxin in cervical cancer.
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.
Neurodegeneration: nicked to death.
Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription.
The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates.
Neuroblastoma
Aprataxin localizes to mitochondria and preserves mitochondrial function.
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.
CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response.
Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
Neurodegeneration: nicked to death.
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1.
Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin.
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.
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.
Vitamin E Deficiency
Autosomal recessive cerebellar ataxias.
Xeroderma Pigmentosum
Inhibition of poly(ADP-ribose)polymerase-1 and DNA repair by uranium.