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Journal ArticleDOI

Single-strand break repair and genetic disease

Keith W. Caldecott
- 01 Aug 2008 - 
- Vol. 9, Iss: 8, pp 619-631
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TLDR
The molecular mechanisms and organization of the DNA-repair pathways that remove single-strand breaks are reviewed and the connection between defects in these pathways and hereditary neurodegenerative disease are discussed.
Abstract
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 cancer. Of the different types of DNA damage that arise in cells, single-strand breaks (SSBs) are the most common, arising at a frequency of tens of thousands per cell per day from direct attack by intracellular metabolites and from spontaneous DNA decay. Here, the molecular mechanisms and organization of the DNA-repair pathways that remove SSBs are reviewed and the connection between defects in these pathways and hereditary neurodegenerative disease are discussed.

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Citations
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Investigating Molecular Determinants of Cancer Cell Resistance to Ionizing Radiation Through an Integrative Bioinformatics Approach.

TL;DR: In this article, an integrative bioinformatics approach was applied to three publicly available RNA sequencing and microarray transcriptome datasets of human cancer cells of different tissue origins treated with ionizing radiation.
Posted ContentDOI

NickSeq for genome-wide strand-specific identification of DNA single-strand break sites with single nucleotide resolution

TL;DR: A new method is developed, NickSeq, for efficient strand-specific profiling of nicks in complex DNA samples with single nucleotide resolution and low false-positive rates and will be useful in exploring the relevance of spontaneously occurring or repair-induced DNA breaks in human disease, DNA breaks caused by DNA damaging agents including therapeutics, and the activity of engineered nucleases in genome editing and other biotechnological applications.
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New insights into the prevention and treatment of familial breast cancer.

TL;DR: DNA damaging agents, like cisplatin, and the new class of drugs called PARP inhibitors exploit the underlying defect in DNA damage repair to great effect.
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Protective Mechanisms Against DNA Replication Stress in the Nervous System

TL;DR: Both cell-autonomous mechanisms, as well as the evidence of RSR-mediated alterations of the cellular microenvironment in the nervous system, were discussed.
Journal ArticleDOI

DNA Damage and Repair in Migraine: Oxidative Stress and Beyond

TL;DR: In conclusion, aberrant activity of SSBR evoked by compromised PARP-1 and XRCC1 may contribute to pathological phenomena in the migraine brain.
References
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Journal ArticleDOI

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Journal ArticleDOI

(ADP-ribose)n participates in DNA excision repair.

TL;DR: It is demonstrated that one function of (ADP–ribose)n is to participate in the cellular recovery from DNA damage, and specific inhibitors of poly(ADP-ribose] polymerase prevent rejoining of DNA strand breaks caused by dimethyl sulphate and cytotoxicity is enhanced thereby.
Journal ArticleDOI

Oxidative Strand Scission of Nucleic Acids: Routes Initiated by Hydrogen Abstraction from the Sugar Moiety.

TL;DR: This work has shown the ability to characterize the sugar moiety through the mechanism of “sugar-by-sugar interactions” and has suggested a number of mechanisms that could be responsible for the sweetness of the sucrose molecule.
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