Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M

FANCM is a component of the Fanconi anemia (FA) core complex and one FA patient (EUFA867) with biallelic mutations in FANCM has been described. Strikingly, we found that EUFA867 also carries biallelic mutations in FANCA. After correcting the FANCA defect in EUFA867 lymphoblasts, a “clean” FA-M cell...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Singh, Thiyam Ramsing, Bakker, Sietske T., Agarwal, Sheba, Jansen, Michael, Grassman, Elke, Godthelp, Barbara C., Ali, Abdullah Mahmood, Du, Chang-hu, Rooimans, Martin A., Fan, Qiang, Wahengbam, Kebola, Steltenpool, Jurgen, Andreassen, Paul R., Williams, David A., Joenje, Hans, de Winter, Johan P., Meetei, Amom Ruhikanta
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society of Hematology 2009
Gaiak:
Red Cells, Iron, and Erythropoiesis
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2710946/
https://ncbi.nlm.nih.gov/pubmed/19423727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2009-02-207811
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