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GenomicsDeficiency of pnkp in zebrafish causes microcephaly, seizures and developmental delay through mitochondrial dysfunction
Deficiency of pnkp in zebrafish causes microcephaly, seizures and developmental delay through mitochondrial dysfunction
PRJNA1372062 | ENA
TranscriptomicsDeficiency of pnkp in zebrafish causes microcephaly, seizures and developmental delay through mitochondrial dysfunction
Variants in the polynucleotide kinase-phosphatase (PNKP) gene leads to a severe neurological disease characterized by microcephaly, intractable seizures, and developmental delay (MCSZ). Despite its clinical impact, the underlying pathological mechanisms remain unclear. In this work, we utilized CRIS...
ORGANISM(S): Danio rerio 
2026-08-06 | GSE312014 | GEO
TranscriptomicsPNKP Targeting Engages the Autophagic Machinery to Enhance Ferroptosis and to Potentiate Anti-Tumor Efficacy of Doxorubicin in TNBC
The polynucleotide kinase/phosphatase (PNKP) is a DNA repair enzyme possessing bifunctional DNA 3′-phosphatase and DNA 5′-kinase activities. It plays an important role in rejoining of single- and double-strand DNA breaks and is considered as a potential therapeutic target for different cancer types....
ORGANISM(S): Homo sapiens 
2025-08-20 | GSE291269 | GEO
GenomicsPNKP Targeting Engages the Autophagic Machinery to Enhance Ferroptosis and to Potentiate Anti-Tumor Efficacy of Doxorubicin in TNBC
PNKP Targeting Engages the Autophagic Machinery to Enhance Ferroptosis and to Potentiate Anti-Tumor Efficacy of Doxorubicin in TNBC
PRJNA1232688 | ENA
UnknownPolynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease.
Not available
S-EPMC5161711 | biostudies-literature
UnknownCDK-dependent phosphorylation regulates PNKP function in DNA replication.
Not available
S-EPMC11650725 | biostudies-literature
UnknownStructural and functional characterization of the PNKP-XRCC4-LigIV DNA repair complex.
Not available
S-EPMC5449630 | biostudies-literature
UnknownDomain analysis of PNKP-XRCC1 interactions: Influence of genetic variants of XRCC1.
Not available
S-EPMC6333889 | biostudies-literature
UnknownB-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.
Not available
S-EPMC12271857 | biostudies-literature
UnknownMutational survivorship bias: The case of PNKP.
Not available
S-EPMC7746193 | biostudies-literature
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