Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repair

Fanconi anemia (FA) is a rare familial genome instability syndrome caused by mutations in FA genes that results in defective DNA crosslink repair. Activation of the FA pathway requires the FA core ubiquitin ligase complex-dependent monoubiquitination of 2 interacting FA proteins, FANCI and FANCD2. A...

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Main Authors: Colnaghi, Luca, Jones, Mathew J. K., Cotto-Rios, Xiomaris M., Schindler, Detlev, Hanenberg, Helmut, Huang, Tony T.
Format: Artigo
Jezik:Inglês
Izdano: American Society of Hematology 2011
Teme:
Red Cells, Iron, and Erythropoiesis
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3062332/
https://ncbi.nlm.nih.gov/pubmed/20971953
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2010-07-295758
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