Article
Biological implications of somatic DDX41 p.R525H mutation in acute myeloid leukemia.
Experimental hematology - 1 Aug 2016
Kadono Moe, Kanai Akinori, Nagamachi Akiko, Shinriki Satoru, Kawata Jin, Iwato Koji, Kyo Taiichi, Oshima Kumi, Yokoyama Akihiko, Kawamura Takeshi, Nagase Reina, Inoue Daichi, Kitamura Toshio, Inaba Toshiya, Ichinohe Tatsuo, Matsui Hirotaka
Abstract excerpt
The DDX41 gene, encoding a DEAD-box type ATP-dependent RNA helicase, is rarely but reproducibly mutated in myeloid diseases. The acquired mutation in DDX41 is highly concentrated at c.G1574A (p.R525H) in the conserved motif VI located at the C-terminus of the helicase core domain where ATP interacts and is hydrolyzed. Therefore, it is likely that the p.R525H mutation perturbs ATPase activity in a...
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