Article
IDH1(R132H) mutation increases murine haematopoietic progenitors and alters epigenetics.
Nature - 30 Aug 2012
Sasaki Masato, Knobbe Christiane B, Munger Joshua C, Lind Evan F, Brenner Dirk, Brüstle Anne, Harris Isaac S, Holmes Roxanne, Wakeham Andrew, Haight Jillian, You-Ten Annick, Li Wanda Y, Schalm Stefanie, Su Shinsan M, Virtanen Carl, Reifenberger Guido, Ohashi Pamela S, Barber Dwayne L, Figueroa Maria E, Melnick Ari, Zúñiga-Pflücker Juan-Carlos, Mak Tak W
Abstract excerpt
Mutations in the IDH1 and IDH2 genes encoding isocitrate dehydrogenases are frequently found in human glioblastomas and cytogenetically normal acute myeloid leukaemias (AML). These alterations are gain-of-function mutations in that they drive the synthesis of the ‘oncometabolite’ R-2-hydroxyglutarate (2HG). It remains unclear how IDH1 and IDH2 mutations modify myeloid cell development and promote leukaemogenesis....
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