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16 p, 2.6 MB Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi / Knies, Kerstin (Bayerische Julius-Maximilians-Universität Würzburg. Institut für Humangenetik) ; Inano, Shojiro (Kyōto Daigaku. Laboratory of DNA Damage Signaling) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ishiai, Masamichi (Kyōto Daigaku. Laboratory of DNA Damage Signaling) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Takata, 5Minoru (Kyōto Daigaku. Laboratory of DNA Damage Signaling) ; Schindler, Detlev (Bayerische Julius-Maximilians-Universität Würzburg. Institut für Humangenetik)
The WD40-containing E3 ubiquitin ligase RFWD3 has been recently linked to the repair of DNA damage by homologous recombination (HR). Here we have shown that an RFWD3 mutation within the WD40 domain is connected to the genetic disease Fanconi anemia (FA). [...]
2017 - 10.1172/JCI92069
The Journal of clinical investigation, Vol. 127, issue 8 (Auyg. 2017) , p. 3013-3027  
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