IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.

  title={IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.},
  author={Martijn Kranendijk and Eduard Alexander Struys and Emile van Schaftingen and K Michael Gibson and Warsha A. Kanhai and Marjo S. van der Knaap and Jeanne Amiel and Neil R. M. Buist and Anibh Martin Das and Johannis B C de Klerk and Annette S J Feigenbaum and Dorothy Katherine Grange and Floris C. Hofstede and Elisabeth Holme and Edwin Philip Kirk and Stanley H. Korman and Eva Morava and Andrew Morris and Jan A M Smeitink and R{\'a}m N. Sukhai and Hilary D. Vallance and Cornelis Jakobs and Gajja Sophi Salomons},
  volume={330 6002},
Heterozygous somatic mutations in the genes encoding isocitrate dehydrogenase-1 and -2 (IDH1 and IDH2) were recently discovered in human neoplastic disorders. These mutations disable the enzymes' normal ability to convert isocitrate to 2-ketoglutarate (2-KG) and confer on the enzymes a new function: the ability to convert 2-KG to d-2-hydroxyglutarate (D-2-HG). We have detected heterozygous germline mutations in IDH2 that alter enzyme residue Arg(140) in 15 unrelated patients with d-2… CONTINUE READING
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