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

Genes and Development

Volumn 28, Issue 5, 2014, Pages 479-490

  Akbay, Esra A ^a,b,c   Moslehi, Javid ^a,d   Christensen, Camilla L ^a,b,c   Saha, Supriya ^b   Tchaicha, Jeremy H ^a,b,c   Ramkissoon, Shakti H ^a,b,d   Stewart, Kelly M ^e   Carretero, Julian ^f   Kikuchi, Eiki ^a,c   Zhang, Haikuo ^a,b,c   Cohoon, Travis J ^a,c   Murray, Stuart ^e   Liu, Wei ^e   Uno, Kazumasa ^d   Fisch, Sudeshna ^d   Jones, Kristen ^a   Gurumurthy, Sushma ^a   Gliser, Camelia ^e   Choe, Sung ^e   Keenan, Marie ^e   Son, Jaekyoung ^a,b   Stanley, Illana ^a   Losman, Julie A ^a,b   Padera, Robert ^d   Bronson, Roderick T ^b   Asara, John M ^b   Abdel Wahab, Omar ^g   Amrein, Philip C ^b   Fathi, Amir T ^a   Danial, Nika N ^a,b   Kimmelman, Alec C ^a   Kung, Andrew L ^h   Ligon, Keith L ^a,b   Yen, Katharine E ^e   Kaelin Jr , William G ^a,b   Bardeesy, Nabeel ^b   Wong, Kwok Kin ^a,b,c   more..

^a DANA FARBER CANCER INSTITUTE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c DANA FARBER HARVARD CANCER CENTER   (United States)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e AGIOS PHARMACEUTICALS   (United States)

^f UNIVERSITY OF VALENCIA   (Spain)

^g MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^h NewYork Presbyterian Hospital   (United States)

Author keywords

Cardiomyopathy; D 2HG; D2HGA; Glycogen; IDH2; Myopathy; Vacuolar leukoencephalopathy

Indexed keywords

2 HYDROXYGLUTARIC ACID; GLYCOGEN; ISOCITRATE DEHYDROGENASE 2; MITOCHONDRIAL DNA; MUTANT PROTEIN;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CARDIOMYOPATHY; CONGESTIVE CARDIOMYOPATHY; GENE EXPRESSION; GENE MUTATION; GLYCOGEN SYNTHESIS; HISTOLOGY; HYDROCEPHALUS; LIFESPAN; MOUSE; MUSCULAR DYSTROPHY; NERVE DEGENERATION; NEUROPATHOLOGY; NONHUMAN; PATHOPHYSIOLOGY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECEPTOR UPREGULATION; TRANSGENIC MOUSE; WHITE MATTER LESION; XENOGRAFT;

CARDIOMYOPATHY; D-2HG; D2HGA; GLYCOGEN; IDH2; MYOPATHY; VACUOLAR LEUKOENCEPHALOPATHY;

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;

EID: 84896821615     PISSN: 08909369     EISSN: 15495477     Source Type: Journal    
DOI: 10.1101/gad.231233.113     Document Type: Article

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