Ontology highlight
ABSTRACT:
SUBMITTER: Akbay EA
PROVIDER: S-EPMC3950345 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
Akbay Esra A EA Moslehi Javid J Christensen Camilla L CL Saha Supriya S Tchaicha Jeremy H JH Ramkissoon Shakti H SH Stewart Kelly M KM Carretero Julian J Kikuchi Eiki E Zhang Haikuo H Cohoon Travis J TJ Murray Stuart S Liu Wei W Uno Kazumasa K Fisch Sudeshna S Jones Kristen K Gurumurthy Sushma S Gliser Camelia C Choe Sung S Keenan Marie M Son Jaekyoung J Stanley Illana I Losman Julie A JA Padera Robert R Bronson Roderick T RT Asara John M JM Abdel-Wahab Omar O Amrein Philip C PC Fathi Amir T AT Danial Nika N NN Kimmelman Alec C AC Kung Andrew L AL Ligon Keith L KL Yen Katharine E KE Kaelin William G WG Bardeesy Nabeel N Wong Kwok-Kin KK
Genes & development 20140301 5
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 IDH2(R140Q) and IDH2(R172K) alleles. Global induction of mutant IDH2 expression in ad ...[more]