Article
D-2-hydroxyglutarate produced by mutant IDH2 causes cardiomyopathy and neurodegeneration in mice.
Genes & development - 1 Mar 2014
Akbay Esra A, Moslehi Javid, Christensen Camilla L, Saha Supriya, Tchaicha Jeremy H, Ramkissoon Shakti H, Stewart Kelly M, Carretero Julian, Kikuchi Eiki, Zhang Haikuo, Cohoon Travis J, Murray Stuart, Liu Wei, Uno Kazumasa, Fisch Sudeshna, Jones Kristen, Gurumurthy Sushma, Gliser Camelia, Choe Sung, Keenan Marie, Son Jaekyoung, Stanley Illana, Losman Julie A, Padera Robert, Bronson Roderick T, Asara John M, Abdel-Wahab Omar, Amrein Philip C, Fathi Amir T, Danial Nika N, Kimmelman Alec C, Kung Andrew L, Ligon Keith L, Yen Katharine E, Kaelin William G, Bardeesy Nabeel, Wong Kwok-Kin
Abstract excerpt
Mutations in isocitrate dehydrogenase 1 and 2 (IDH1/2) have been discovered in several cancer types and cause the neurometabolic syndrome D2-hydroxyglutaric aciduria (D2HGA). The mutant enzymes exhibit neomorphic activity resulting in production of D2-hydroxyglutaric acid (D-2HG). To study the pathophysiological consequences of the accumulation of D-2HG, we generated transgenic mice with conditionally activated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.