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Importance of finding the bona fide target of the Fanconi anemia pathway

Fanconi anemia (FA) is a rare genetic disease characterized by the deficiency of the cellular response and repair pathway for DNA interstrand crosslink (ICL) damage. Although recent studies have revealed the detailed molecular functions of FA proteins encoded by 22 genes, the mechanism of occurrence...

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Detalles Bibliográficos
Autores principales: Sakai, Wataru, Sugasawa, Kaoru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402094/
https://www.ncbi.nlm.nih.gov/pubmed/30873250
http://dx.doi.org/10.1186/s41021-019-0122-y
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author Sakai, Wataru
Sugasawa, Kaoru
author_facet Sakai, Wataru
Sugasawa, Kaoru
author_sort Sakai, Wataru
collection PubMed
description Fanconi anemia (FA) is a rare genetic disease characterized by the deficiency of the cellular response and repair pathway for DNA interstrand crosslink (ICL) damage. Although recent studies have revealed the detailed molecular functions of FA proteins encoded by 22 genes, the mechanism of occurrence of endogenous ICLs in the human body remains poorly understood. In this short review, we summarize the potential endogenous sources of ICLs counteracted by FA proteins, and provide perspectives on the unanswered questions regarding FA.
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spelling pubmed-64020942019-03-14 Importance of finding the bona fide target of the Fanconi anemia pathway Sakai, Wataru Sugasawa, Kaoru Genes Environ Review Fanconi anemia (FA) is a rare genetic disease characterized by the deficiency of the cellular response and repair pathway for DNA interstrand crosslink (ICL) damage. Although recent studies have revealed the detailed molecular functions of FA proteins encoded by 22 genes, the mechanism of occurrence of endogenous ICLs in the human body remains poorly understood. In this short review, we summarize the potential endogenous sources of ICLs counteracted by FA proteins, and provide perspectives on the unanswered questions regarding FA. BioMed Central 2019-03-06 /pmc/articles/PMC6402094/ /pubmed/30873250 http://dx.doi.org/10.1186/s41021-019-0122-y Text en © The Author(s) 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Review
Sakai, Wataru
Sugasawa, Kaoru
Importance of finding the bona fide target of the Fanconi anemia pathway
title Importance of finding the bona fide target of the Fanconi anemia pathway
title_full Importance of finding the bona fide target of the Fanconi anemia pathway
title_fullStr Importance of finding the bona fide target of the Fanconi anemia pathway
title_full_unstemmed Importance of finding the bona fide target of the Fanconi anemia pathway
title_short Importance of finding the bona fide target of the Fanconi anemia pathway
title_sort importance of finding the bona fide target of the fanconi anemia pathway
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402094/
https://www.ncbi.nlm.nih.gov/pubmed/30873250
http://dx.doi.org/10.1186/s41021-019-0122-y
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