Article
Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma.
Scientific reports - 27 Jul 2016
van Lith Sanne A M, Navis Anna C, Lenting Krissie, Verrijp Kiek, Schepens Jan T G, Hendriks Wiljan J A J, Schubert Nil A, Venselaar Hanka, Wevers Ron A, van Rooij Arno, Wesseling Pieter, Molenaar Remco J, van Noorden Cornelis J F, Pusch Stefan, Tops Bastiaan, Leenders William P J
Abstract excerpt
The majority of low-grade and secondary high-grade gliomas carry heterozygous hotspot mutations in cytosolic isocitrate dehydrogenase 1 (IDH1) or the mitochondrial variant IDH2. These mutations mostly involve Arg132 in IDH1, and Arg172 or Arg140 in IDH2. Whereas IDHs convert isocitrate to alpha-ketoglutarate (α-KG) with simultaneous reduction of NADP(+) to NADPH, these IDH mutants reduce α-KG to...
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