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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2019
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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. |
format | Online Article Text |
id | pubmed-6402094 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT sakaiwataru importanceoffindingthebonafidetargetofthefanconianemiapathway AT sugasawakaoru importanceoffindingthebonafidetargetofthefanconianemiapathway |