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MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY

Known as: EIEE10, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10, MCSZ 
 
National Institutes of Health

Related topics

Related topics

6 relations
Autosomal recessive inheritanceHyperactive behaviorHypoplasia of the corpus callosumIntellectual disability, severe
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
Pathogenic variants in polynucleotide kinase 3'-phosphatase (PNKP) gene have been associated with two distinct clinical… Expand
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2017
2017
The Rev1 interacting region (RIR) motif in the scaffold protein XRCC1 mediates a low-affinity interaction with polynucleotide kinase/phosphatase (PNKP) during DNA single-strand break repair
The scaffold protein X-ray repair cross-complementing 1 (XRCC1) interacts with multiple enzymes involved in DNA base excision… Expand
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2017
2017
Structural and functional characterization of the PNKP–XRCC4–LigIV DNA repair complex
Abstract Non-homologous end joining (NHEJ) repairs DNA double strand breaks in non-cycling eukaryotic cells. NHEJ relies on… Expand
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2017
2017
Lingering single-strand breaks trigger Rad51-independent homology-directed repair of collapsed replication forks in the polynucleotide kinase/phosphatase mutant of fission yeast
The DNA repair enzyme polynucleotide kinase/phosphatase (PNKP) protects genome integrity by restoring ligatable 5'-phosphate and… Expand
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Review
2016
Review
2016
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.
Microcephaly is a rare neurological condition, both in isolation and when it occurs as part of a syndrome. One of the syndromic… Expand
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Review
2015
Review
2015
Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4
Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used… Expand
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2012
2012
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair
Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in… Expand
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2011
2011
DNA end processing by polynucleotide kinase/phosphatase.
Scission of one or both strands of the DNA duplex occurs as ionizing radiation and oxidative DNA damage mount a constant assault… Expand
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2011
2011
The role of human DNA glycosylase NEIL 2 and the single-strand break repair protein polynucleotide kinase 3 '-phosphatase in maintenance of the mitochondrial genome
The repair of reactive oxygen species (ROS)-induced base lesions and single-strand breaks (SSBs) in the nuclear genome via the… Expand
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Highly Cited
2010
Highly Cited
2010
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
Maintenance of DNA integrity is crucial for all cell types, but neurons are particularly sensitive to mutations in DNA repair… Expand
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