Article
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate.
Nature - 10 Dec 2009
Dang Lenny, White David W, Gross Stefan, Bennett Bryson D, Bittinger Mark A, Driggers Edward M, Fantin Valeria R, Jang Hyun Gyung, Jin Shengfang, Keenan Marie C, Marks Kevin M, Prins Robert M, Ward Patrick S, Yen Katharine E, Liau Linda M, Rabinowitz Joshua D, Cantley Lewis C, Thompson Craig B, Vander Heiden Matthew G, Su Shinsan M
Abstract excerpt
Mutations in the enzyme cytosolic isocitrate dehydrogenase 1 (IDH1) are a common feature of a major subset of primary human brain cancers. These mutations occur at a single amino acid residue of the IDH1 active site, resulting in loss of the enzyme's ability to catalyse conversion of isocitrate to alpha-ketoglutarate. However, only a single copy of the gene is mutated in tumours, raising the possibility that the...
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