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| Författare |
Martijn Kranendijk Eduard A Struys Emile van Schaftingen K Michael Gibson Warsha A Kanhai Marjo S van der Knaap Jeanne Amiel Neil R Buist Anibh M Das Johannis B de Klerk Annette S Feigenbaum Dorothy K Grange Floris C Hofstede Elisabeth Holme Edwin P Kirk Stanley H Korman Eva Morava Andrew Morris Jan Smeitink Rám N Sukhai Hilary Vallance Cornelis Jakobs Gajja S Salomons |
|---|---|
| Publicerad i | Science (New York, N.Y.) |
| Volym | 330 |
| Nummer/häfte | 6002 |
| Sidor | 336 |
| ISSN | 1095-9203 |
| Publiceringsår | 2010 |
| Publicerad vid |
Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin |
| Sidor | 336 |
| Språk | en |
| Länkar |
dx.doi.org/10.1126/science.1192632 |
| Ämneskategorier | Klinisk kemi, Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci) |
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.
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