ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients

ERCC1-XPF is a multifunctional endonuclease involved in nucleotide excision repair (NER), interstrand cross-link (ICL) repair, and DNA double-strand break (DSB) repair. Only two patients with bi-allelic ERCC1 mutations have been reported, both of whom had features of Cockayne syndrome and died in in...

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Detalles Bibliográficos
Autores principales: Apelt, Katja, White, Susan M., Kim, Hyun Suk, Yeo, Jung-Eun, Kragten, Angela, Wondergem, Annelotte P., Rooimans, Martin A., González-Prieto, Román, Wiegant, Wouter W., Lunke, Sebastian, Flanagan, Daniel, Pantaleo, Sarah, Quinlan, Catherine, Hardikar, Winita, van Attikum, Haico, Vertegaal, Alfred C.O., Wilson, Brian T., Wolthuis, Rob M.F., Schärer, Orlando D., Luijsterburg, Martijn S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7927433/
https://www.ncbi.nlm.nih.gov/pubmed/33315086
http://dx.doi.org/10.1084/jem.20200622

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7927433/
https://www.ncbi.nlm.nih.gov/pubmed/33315086
http://dx.doi.org/10.1084/jem.20200622

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