D-2-hydroxyglutarate produced by mutant IDH2 causes cardiomyopathy and neurodegeneration in mice

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 patho...

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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Cold Spring Harbor Laboratory Press 2014
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Research Paper
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3950345/
https://ncbi.nlm.nih.gov/pubmed/24589777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gad.231233.113
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