Journal ArticleDOI
Single-strand break repair and genetic disease
Reads0
Chats0
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.read more
Citations
More filters
Genes and Mechanisms in Primary Microcephaly
TL;DR: The concept of congenital microcephaly is reviewed, the importance of studying this topic for the understanding of human brain evolution is illustrated, the current hypothesis about disease pathogenesis is presented and the experimental work is introduced.
Journal ArticleDOI
Next Generation Sequence-based Technologies for Analyzing DNA Strand Breaks
Dissertation
Characterization of a novel DNA binding domain in the N-terminus of BRCA2 and evaluation of BRCA2 variants identified in breast cancer patients in the same region
TL;DR: This work revealed a novel DNA binding domain in the N-terminus of BRCA2 that, in contrast to the CT-DBD, can associate with dsDNA and promote RAD51 recombination activity and proposes that the NT-DBd positions RAD51 at the ssDNA/dsDNA junction facilitating RAD51 loading onto the RPA-coated ssDNA.
References
More filters
Journal ArticleDOI
Cellular roles of DNA topoisomerases: a molecular perspective.
TL;DR: In this review, the cellular roles of these enzymes are examined from a molecular point of view.
Journal ArticleDOI
Poly(adp-ribosyl)ation reactions in the regulation of nuclear functions
TL;DR: The total dependence of poly(ADP-ribose) synthesis on DNA strand breaks strongly suggests that this post-translational modification is involved in the metabolism of nucleic acids, and the presence of PARP in these multiprotein complexes clearly supports an important role for poly(ADE-ribosyl)ation reactions in DNA transactions.
Journal ArticleDOI
The PARP superfamily.
TL;DR: This review summarizes the present knowledge of this emerging superfamily of Poly(ADP‐ribose) polymerases, which might ultimately improve pharmacological strategies to enhance both antitumor efficacy and the treatment of a number of inflammatory and neurodegenerative disorders.
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.