| Literature DB >> 17460694 |
Ashley E Sims1, Elizabeth Spiteri, Robert J Sims, Adriana G Arita, Francis P Lach, Thomas Landers, Melanie Wurm, Marcel Freund, Kornelia Neveling, Helmut Hanenberg, Arleen D Auerbach, Tony T Huang.
Abstract
Activation of the Fanconi anemia (FA) DNA damage-response pathway results in the monoubiquitination of FANCD2, which is regulated by the nuclear FA core ubiquitin ligase complex. A FANCD2 protein sequence-based homology search facilitated the discovery of FANCI, a second monoubiquitinated component of the FA pathway. Biallelic mutations in the gene coding for this protein were found in cells from four FA patients, including an FA-I reference cell line.Entities:
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Year: 2007 PMID: 17460694 DOI: 10.1038/nsmb1252
Source DB: PubMed Journal: Nat Struct Mol Biol ISSN: 1545-9985 Impact factor: 15.369