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

Akbay EA, Moslehi J, Christensen CL, Saha S, Tchaicha JH, Ramkissoon SH, Stewart KM, Carretero J, Kikuchi E, Zhang H, Cohoon TJ, Murray S, Liu W, Uno K, Fisch S, Jones K, Gurumurthy S, Gliser C, Choe S, Keenan M, Son J, Stanley I, Losman JA, Padera R, Bronson RT, Asara JM, Abdel-Wahab O, Amrein PC, Fathi AT, Danial NN, Kimmelman AC, Kung AL, Ligon KL, Yen KE, Kaelin WG, Bardeesy N, Wong KK
Genes Dev. 2014 28 (5): 479-90

PMID: 24589777 · PMCID: PMC3950345 · DOI:10.1101/gad.231233.113

MeSH Terms (14)

Animals Cardiomyopathies Cell Line Gene Expression Profiling Gene Expression Regulation, Developmental Glutarates Heart Humans Isocitrate Dehydrogenase Mice Mice, Inbred BALB C Mice, Nude Mutation Neurodegenerative Diseases

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