Article
Map of synthetic rescue interactions for the Fanconi anemia DNA repair pathway identifies USP48.
Nature communications - 11 Jun 2018
Velimezi Georgia, Robinson-Garcia Lydia, Muñoz-Martínez Francisco, Wiegant Wouter W, Ferreira da Silva Joana, Owusu Michel, Moder Martin, Wiedner Marc, Rosenthal Sara Brin, Fisch Kathleen M, Moffat Jason, Menche Jörg, van Attikum Haico, Jackson Stephen P, Loizou Joanna I
Abstract excerpt
Defects in DNA repair can cause various genetic diseases with severe pathological phenotypes. Fanconi anemia (FA) is a rare disease characterized by bone marrow failure, developmental abnormalities, and increased cancer risk that is caused by defective repair of DNA interstrand crosslinks (ICLs). Here, we identify the deubiquitylating enzyme USP48 as synthetic viable for FA-gene deficiencies by performing...
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