Article
E3 ligase-defective Cbl mutants lead to a generalized mastocytosis and myeloproliferative disease.
Blood - 5 Nov 2009
Bandi Srinivasa Rao, Brandts Christian, Rensinghoff Marion, Grundler Rebekka, Tickenbrock Lara, Köhler Gabriele, Duyster Justus, Berdel Wolfgang E, Müller-Tidow Carsten, Serve Hubert, Sargin Bülent
Abstract excerpt
Somatic mutations of Kit have been found in leukemias and gastrointestinal stromal tumors. The proto-oncogene c-Cbl negatively regulates Kit and Flt3 by its E3 ligase activity and acts as a scaffold. We recently identified the first c-Cbl mutation in human disease in an acute myeloid leukemia patient, called Cbl-R420Q. Here we analyzed the role of Cbl mutants on Kit-mediated transformation. Coexpression of...
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