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DNA repair and neurological disease: From molecular understanding to the development of diagnostics and model organisms.

Abstract：

:In both replicating and non-replicating cells, the maintenance of genomic stability is of utmost importance. Dividing cells can repair DNA damage during cell division, tolerate the damage by employing potentially mutagenic DNA polymerases or die via apoptosis. However, the options for accurate DNA repair are more limited in non-replicating neuronal cells. If DNA damage is left unresolved, neuronal cells die causing neurodegenerative disorders. A number of pathogenic variants of DNA repair proteins have been linked to multiple neurological diseases. The current challenge is to harness our knowledge of fundamental properties of DNA repair to improve diagnosis, prognosis and treatment of such debilitating disorders. In this perspective, we will focus on recent efforts in identifying novel DNA repair biomarkers for the diagnosis of neurological disorders and their use in monitoring the patient response to therapy. These efforts are greatly facilitated by the development of model organisms such as zebrafish, which will also be summarised.

journal_name

DNA Repair (Amst)

journal_title

DNA repair

authors

Abugable AA,Morris JLM,Palminha NM,Zaksauskaite R,Ray S,El-Khamisy SF

doi

10.1016/j.dnarep.2019.102669

subject

Has Abstract

pub_date

2019-09-01 00:00:00

pages

102669

eissn

1568-7864

issn

1568-7856

pii

S1568-7864(19)30222-8

journal_volume

81

pub_type

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