Novel PNKP mutations associated with reduced DNA single‐strand break repair and severe microcephaly, seizures, and developmental delay

DNA single-strand break repair and human genetic disease

(2022) Keith W. Caldecott   TRENDS IN CELL BIOLOGY

Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair

(2020) Ilona Kalasova et al.   NUCLEIC ACIDS RESEARCH

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations

(2019) Marta Gatti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Persistent 3′-phosphate termini and increased cytotoxicity of radiomimetic DNA double-strand breaks in cells lacking polynucleotide kinase/phosphatase despite presence of an alternative 3′-phosphatase

(2018) Sri Lakshmi Chalasani et al.   DNA REPAIR

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

(2018) Amanda S. Lindy et al.   EPILEPSIA

Multi affected pedigree with congenital microcephaly: WES revealed PNKP gene mutation

(2018) Mona Entezam et al.   BRAIN & DEVELOPMENT

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

(2016) Nicolas C. Hoch et al.   NATURE

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

(2015) Jose Bras et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair

(2012) John J. Reynolds et al.   NUCLEIC ACIDS RESEARCH

γH2AX foci analysis for monitoring DNA double-strand break repair: Strengths, limitations and optimization

(2011) Markus Löbrich et al.   CELL CYCLE

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

(2010) Jun Shen et al.   NATURE GENETICS