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Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ

author

Ilona Kalasova

Bernd Wollnik

published in: Neurology. Genetics

date of publication: 2019-03-25

language: English

Cites articles 17

Date

Title

Authors

2018-01-01

Nonsyndromic cerebellar ataxias associated with disorders of DNA single-strand break repair
2018-07-24

The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

Christian T Thiel, Alejandro Leal, Heinrich Sticht, André Reis
2016-07-25

Neurological disorders associated with DNA strand-break processing enzymes
2016-12-21

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

Nicolas C Hoch, Hana Hanzlíková, Kevin Staras
2015-02-26

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

Jose Bras, John Anthony Hardy, Rita Guerreiro, Lee Darwent
2015-08-19

Polynucleotide kinase-phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability
2015-10-22

Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease

José Luiz Pedroso, Carlos F. Menck, Orlando G. Barsottini
2014-05-04

Aberrant topoisomerase-1 DNA lesions are pathogenic in neurodegenerative genome instability syndromes

Sachin Katyal, Mikio Shimada, John Petrini, John L. Nitiss, Karin C Nitiss
2012-04-15

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

Christopher A. Walsh
2010-03

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

Christopher A. Walsh
2006-04-28

The phosphatase activity of mammalian polynucleotide kinase takes precedence over its kinase activity in repair of single strand breaks

Sarah L Allinson
2006-01-01

Measurement of chromosomal DNA single-strand breaks and replication fork progression rates.

Eva Petermann
2005-03-03

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

Thomas Helleday, James R. Lupski
2004-04-02

The protein kinase CK2 facilitates repair of chromosomal DNA single-strand breaks

Joanna I. Loizou, Stefania Sarno
2003-04

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

Mark O'Driscoll, Victor L Ruiz-Perez, Judith A Goodship
1999-08-20

Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage
1999-08-20

Molecular characterization of a human DNA kinase

Michelle M Le Beau

Article - wd:Q64056204

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