Single-strand break repair and genetic disease

KW Caldecott - Nature Reviews Genetics, 2008 - nature.com
Hereditary defects in the repair of DNA damage are implicated in a variety of diseases, many
of which are typified by neurological dysfunction and/or increased genetic instability and …

XRCC1 and DNA strand break repair

KW Caldecott - DNA repair, 2003 - Elsevier
DNA single-strand breaks can arise indirectly, as normal intermediates of DNA base excision
repair, or directly from damage to deoxyribose. Because single-strand breaks are induced …

DNA strand break repair and human genetic disease

PJ McKinnon, KW Caldecott - Annu. Rev. Genomics Hum …, 2007 - annualreviews.org
Each day tens of thousands of DNA single-strand breaks (SSBs) arise in every cell from the
attack of deoxyribose and DNA bases by reactive oxygen species and other electrophilic …

XRCC1 polypeptide interacts with DNA polymerase β and possibly poly (ADP-ribose) polymerase, and DNA ligase III is a novel molecular 'nick-sensor'in vitro

KW Caldecott, S Aoufouchi, P Johnson… - Nucleic acids …, 1996 - academic.oup.com
The DNA repair proteins XRCC1 and DNA ligase III are physically associated in human cells
and directly interact in vitro and in vivo. Here, we demonstrate that XRCC1 is additionally …

A requirement for PARP‐1 for the assembly or stability of XRCC1 nuclear foci at sites of oxidative DNA damage

…, M Masutani, H Suzuki, KW Caldecott - Nucleic acids …, 2003 - academic.oup.com
The molecular role of poly (ADP‐ribose) polymerase‐1 in DNA repair is unclear. Here, we
show that the single‐strand break repair protein XRCC1 is rapidly assembled into discrete …

[HTML][HTML] XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair

…, DD Lasko, M Weinfeld, KW Caldecott - Cell, 2001 - cell.com
XRCC1 protein is required for DNA single-strand break repair and genetic stability but its
biochemical role is unknown. Here, we report that XRCC1 interacts with human polynucleotide …

An interaction between the mammalian DNA repair protein XRCC1 and DNA ligase III

KW Caldecott, CK McKeown, JD Tucker… - … and cellular biology, 1994 - Taylor & Francis
XRCC1, the human gene that fully corrects the Chinese hamster ovary DNA repair mutant
EM9, encodes a protein involved in the rejoining of DNA single-strand breaks that arise …

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

…, F Johansson, T Helleday, JR Lupski, KW Caldecott - Nature, 2005 - nature.com
Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) is a neurodegenerative disease
that results from mutation of tyrosyl phosphodiesterase 1 (TDP1) 1 . In lower eukaryotes, …

A human 5′-tyrosyl DNA phosphodiesterase that repairs topoisomerase-mediated DNA damage

…, SF El Khamisy, MC Zuma, K Osborn, KW Caldecott - Nature, 2009 - nature.com
Topoisomerases regulate DNA topology and are fundamental to many aspects of chromosome
metabolism 1 , 2 . Their activity involves the transient cleavage of DNA, which, if it occurs …

The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates

…, S Katyal, PM Clements, PJ McKinnon, KW Caldecott… - Nature, 2006 - nature.com
Ataxia oculomotor apraxia-1 (AOA1) is a neurological disorder caused by mutations in the
gene (APTX) encoding aprataxin 1 , 2 . Aprataxin is a member of the histidine triad (HIT) family …