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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2014
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3950345/
https://www.ncbi.nlm.nih.gov/pubmed/24589777
http://dx.doi.org/10.1101/gad.231233.113

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