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| Title: | IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. |
| Author(s): | Kranendijk, M.
Struys, E.A.
Schaftingen, E. van
Gibson, K.M.
Kanhai, W.A.
Knaap, M.S. van der
Amiel, J.
Buist, N.R.
Das, A.M.
Klerk, J.B. De
Feigenbaum, A.S.
Grange, D.K.
Hofstede, F.C.
Holme, E.
Kirk, E.P.
Korman, S.H.
Morava, E. (298976846)
Morris, A.
Smeitink, J.A.M. (097665606)
Sukhai, R.N.
Vallance, H.
Jakobs, C.
Salomons, G.S. |
| Publication year: | 2010 |
| Document type: | Article / Letter to editor |
| Journal: | Science |
| ISSN: | 0036-8075 |
| Volume: | vol. 330 |
| Issue: | iss. 6002 |
| Start page: | p. 336 |
| End page: | p. 336 |
| Abstract: | 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-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: | IGMD 3: Genomic disorders and inherited multi-system disorders |
| Organization: | UMCN Extern
Paediatrics
Laboratory of Genetic, Endocrine and Metabolic Diseases |
| Appears in Collections: | Academic bibliography
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/2066/88250
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