scispace - formally typeset
Journal ArticleDOI

Single-strand break repair and genetic disease

Keith W. Caldecott
- 01 Aug 2008 - 
- Vol. 9, Iss: 8, pp 619-631
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
Journal ArticleDOI

Gene expression and prognosis of x-ray repair cross-complementing family members in non-small cell lung cancer.

TL;DR: In this paper, the expression levels of X-ray repair cross-complementing gene (XRCC) family participates in DNA damage repair and its dysregulation is associated with the development and progression of a variety of cancers.
Dissertation

Etude des ADN glycosylases de la superfamille structurale Fpg/Nei par modélisation moléculaire, de nouvelles cibles thérapeutiques potentielles dans les stratégies anti-cancer

TL;DR: In this paper, le systeme de reparation par excision de bases (BER) is described, in which modifications structurales deleteres de l’ADN sont eliminees par de nombreux mecanismes de reparations.
Journal ArticleDOI

Molecular mechanism for spinocerebellar ataxias

TL;DR: The findings indicate that aprataxin removes blocking molecules from 3'-ends, and that the accumulation of unrepaired SSBs with damaged 3'- ends underlies the pathogenesis of EAOH/AOA1, which will provide new insight into the mechanism underlying degeneration and DNA repair in neurons.
Dissertation

Implementing super-resolution palm microscopy in fission yeast

TL;DR: The aim of this thesis is to apply the technique of photo-activatable localisation microscopy (PALM) to specific biological questions in order to establish its benefits and limitations.
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.
Related Papers (5)