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  • Kranendijk, Martijn (author)

IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria.

  • Article/chapterEnglish2010

Publisher, publication year, extent ...

  • American Association for the Advancement of Science (AAAS),2010

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/127444
  • https://gup.ub.gu.se/publication/127444URI
  • https://doi.org/10.1126/science.1192632DOI

Supplementary language notes

  • Language:English

Part of subdatabase

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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 R140 in 15 unrelated patients with d-2-hydroxyglutaric aciduria (D-2-HGA), a rare neurometabolic disorder characterized by supraphysiological levels of D-2-HG. These findings provide additional impetus for investigating the role of D-2-HG in the pathophysiology of metabolic disease and cancer.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Struys, Eduard A (author)
  • van Schaftingen, Emile (author)
  • Gibson, K Michael (author)
  • Kanhai, Warsha A (author)
  • van der Knaap, Marjo S (author)
  • Amiel, Jeanne (author)
  • Buist, Neil R (author)
  • Das, Anibh M (author)
  • de Klerk, Johannis B (author)
  • Feigenbaum, Annette S (author)
  • Grange, Dorothy K (author)
  • Hofstede, Floris C (author)
  • Holme, Elisabeth,1947Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine(Swepub:gu)xholme (author)
  • Kirk, Edwin P (author)
  • Korman, Stanley H (author)
  • Morava, Eva (author)
  • Morris, Andrew (author)
  • Smeitink, Jan (author)
  • Sukhai, Rám N (author)
  • Vallance, Hilary (author)
  • Jakobs, Cornelis (author)
  • Salomons, Gajja S (author)
  • Göteborgs universitetInstitutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin (creator_code:org_t)

Related titles

  • In:Science (New York, N.Y.): American Association for the Advancement of Science (AAAS)330:60021095-92030036-8075

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