DNA single-strand break repair and human genetic disease

KW Caldecott - Trends in Cell Biology, 2022 - cell.com
DNA single-strand breaks (SSBs) are amongst the commonest DNA lesions arising in cells,
with many tens of thousands induced in each cell each day. SSBs arise not only from …

[HTML][HTML] DNA damage and its links to neurodegeneration

R Madabhushi, L Pan, LH Tsai - Neuron, 2014 - cell.com
The integrity of our genetic material is under constant attack from numerous endogenous
and exogenous agents. The consequences of a defective DNA damage response are well …

DNA repair mechanisms in dividing and non-dividing cells

T Iyama, DM Wilson III - DNA repair, 2013 - Elsevier
DNA damage created by endogenous or exogenous genotoxic agents can exist in multiple
forms, and if allowed to persist, can promote genome instability and directly lead to various …

Coordination of DNA single strand break repair

R Abbotts, DM Wilson III - Free Radical Biology and Medicine, 2017 - Elsevier
The genetic material of all organisms is susceptible to modification. In some instances, these
changes are programmed, such as the formation of DNA double strand breaks during …

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 …

[PDF][PDF] DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

YZ Chen, CL Bennett, HM Huynh, IP Blair, I Puls… - The American Journal of …, 2004 - cell.com
Juvenile amyotrophic lateral sclerosis (ALS4) is a rare autosomal dominant form of juvenile
amyotrophic lateral sclerosis (ALS) characterized by distal muscle weakness and atrophy …

XRCC1 protein; Form and function

KW Caldecott - DNA repair, 2019 - Elsevier
The human gene that encodes XRCC1 was cloned nearly thirty years ago but experimental
analysis of this fascinating protein is still unveiling new insights into the DNA damage …

DNA repair deficiency in neurodegeneration

DK Jeppesen, VA Bohr, T Stevnsner - Progress in neurobiology, 2011 - Elsevier
Deficiency in repair of nuclear and mitochondrial DNA damage has been linked to several
neurodegenerative disorders. Many recent experimental results indicate that the post-mitotic …

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

H Takashima, CF Boerkoel, J John, GM Saifi… - Nature …, 2002 - nature.com
Abstract Tyrosyl-DNA phosphodiesterase 1 (TDP1) repairs covalently bound topoisomerase
I–DNA complexes 1, 2, 3 and is essential for preventing the formation of double-strand …

Human DNA repair genes, 2005

RD Wood, M Mitchell, T Lindahl - Mutation Research/Fundamental and …, 2005 - Elsevier
An updated inventory of about 150 human DNA repair genes is described. The compilation
includes genes encoding DNA repair enzymes, some genes associated with cellular …