A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and Humans

The MRE11-RAD50-NBS1 complex plays a central role in response to DNA double-strand breaks. Here, we identify a patient with bone marrow failure and developmental defects caused by biallelic RAD50 mutations. One of the mutations creates a null allele, whereas the other (RAD50(E1035Δ)) leads to the lo...

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Detalles Bibliográficos
Autores principales: Chansel-Da Cruz, Marie, Hohl, Marcel, Ceppi, Ilaria, Kermasson, Laëtitia, Maggiorella, Laurence, Modesti, Mauro, de Villartay, Jean-Pierre, Ileri, Talia, Cejka, Petr, Petrini, John H.J., Revy, Patrick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788285/
https://www.ncbi.nlm.nih.gov/pubmed/33378670
http://dx.doi.org/10.1016/j.celrep.2020.108559

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