Article
Structural basis of the fanconi anemia-associated mutations within the FANCA and FANCG complex.
Nucleic acids research - 6 Apr 2020
Jeong Eunyoung, Lee Seong-Gyu, Kim Hyun-Suk, Yang Jihyeon, Shin Jinwoo, Kim Youngran, Kim Jihan, Schärer Orlando D, Kim Youngjin, Yeo Jung-Eun, Kim Ho Min, Cho Yunje
Abstract excerpt
Monoubiquitination of the Fanconi anemia complementation group D2 (FANCD2) protein by the FA core ubiquitin ligase complex is the central event in the FA pathway. FANCA and FANCG play major roles in the nuclear localization of the FA core complex. Mutations of these two genes are the most frequently observed genetic alterations in FA patients, and most point mutations in FANCA are clustered in the C-terminal...
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