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Disease on EC 3.1.3.32 - polynucleotide 3'-phosphatase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adenoma
Polynucleotide kinase 3' phosphatase variant, dietary variables and risk of adenoma recurrence in the Polyp Prevention Trial.
Apraxias
A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment.
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4.
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
The RIR motif in the scaffold protein XRCC1 mediates a low-affinity interaction with polynucleotide kinase/phosphatase (PNKP) during DNA single-strand break repair.
Ataxia
A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment.
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4.
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.
The RIR motif in the scaffold protein XRCC1 mediates a low-affinity interaction with polynucleotide kinase/phosphatase (PNKP) during DNA single-strand break repair.
Brain Diseases
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
Breast Neoplasms
Elevated PI3K signaling drives multiple breast cancer subtypes.
Charcot-Marie-Tooth Disease
Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.
The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.
Colonic Neoplasms
Synthetic Lethal Targeting of PTEN-Deficient Cancer Cells Using Selective Disruption of Polynucleotide Kinase/Phosphatase.
Colorectal Neoplasms
A synthetically lethal nanomedicine delivering novel inhibitors of polynucleotide kinase 3'-phosphatase (PNKP) for targeted therapy of PTEN-deficient colorectal cancer.
Decompression Sickness
A nick-sensing DNA 3'-repair enzyme from Arabidopsis.
Endometrial Neoplasms
Direct identification of PTEN phosphorylation sites.
Genetic Diseases, Inborn
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.
Glioblastoma
Direct identification of PTEN phosphorylation sites.
Leukemia
Genetic screening for synthetic lethal partners of polynucleotide kinase/phosphatase: potential for targeting SHP-1 depleted cancers.
Leukemia, Myeloid
The human polynucleotide kinase/phosphatase (hPNKP) inhibitor A12B4C3 radiosensitizes human myeloid leukemia cells to Auger electron-emitting anti-CD123 (111)In-NLS-7G3 radioimmunoconjugates.
Lymphoma
Genetic screening for synthetic lethal partners of polynucleotide kinase/phosphatase: potential for targeting SHP-1 depleted cancers.
Machado-Joseph Disease
The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3'-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis.
Melanoma
Direct identification of PTEN phosphorylation sites.
Microcephaly
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4.
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.
Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.
Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease.
The RIR motif in the scaffold protein XRCC1 mediates a low-affinity interaction with polynucleotide kinase/phosphatase (PNKP) during DNA single-strand break repair.
Neoplasms
A synthetically lethal nanomedicine delivering novel inhibitors of polynucleotide kinase 3'-phosphatase (PNKP) for targeted therapy of PTEN-deficient colorectal cancer.
Correlation between synaptogenesis and the PTEN phosphatase expression in dendrites during postnatal brain development.
Direct identification of PTEN phosphorylation sites.
Elevated PI3K signaling drives multiple breast cancer subtypes.
Genetic screening for synthetic lethal partners of polynucleotide kinase/phosphatase: potential for targeting SHP-1 depleted cancers.
Monitoring regulation of DNA repair activities of cultured cells in-gel using the comet assay.
Synthetic Lethal Targeting of PTEN-Deficient Cancer Cells Using Selective Disruption of Polynucleotide Kinase/Phosphatase.
The lipogenic LXR-SREBF1 signaling pathway controls cancer cell DNA repair and apoptosis and is a vulnerable point of malignant tumors for cancer therapy.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Why high cholesterol levels help hematological malignancies: role of nuclear lipid microdomains.
Prostatic Neoplasms
Genetic screening for synthetic lethal partners of polynucleotide kinase/phosphatase: potential for targeting SHP-1 depleted cancers.
Seizures
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.
Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.
The RIR motif in the scaffold protein XRCC1 mediates a low-affinity interaction with polynucleotide kinase/phosphatase (PNKP) during DNA single-strand break repair.
Spinocerebellar Ataxias
The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3'-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis.
Werner Syndrome
Biochemical mechanisms of chromosomal translocations resulting from DNA double-strand breaks.