A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model

D-2-hydroxyglutaric aciduria (D2HGA) type II is a rare neurometabolic disorder caused by germline gain-of-function mutations in isocitrate dehydrogenase 2 (IDH2), resulting in accumulation of D-2-hydroxyglutarate (D2HG). Patients exhibit a wide spectrum of symptoms including cardiomyopathy, epilepsy...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Wang, Fang, Travins, Jeremy, Lin, Zhizhong, Si, Yaguang, Chen, Yue, Powe, Josh, Murray, Stuart, Zhu, Dongwei, Artin, Erin, Gross, Stefan, Santiago, Stephanie, Steadman, Mya, Kernytsky, Andrew, Straley, Kimberly, Lu, Chenming, Pop, Ana, Struys, Eduard A., Jansen, Erwin E. W., Salomons, Gajja S., David, Muriel D., Quivoron, Cyril, Penard-Lacronique, Virginie, Regan, Karen S., Liu, Wei, Dang, Lenny, Yang, Hua, Silverman, Lee, Agresta, Samuel, Dorsch, Marion, Biller, Scott, Yen, Katharine, Cang, Yong, Su, Shin-San Michael, Jin, Shengfang
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2016
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5065612/
https://ncbi.nlm.nih.gov/pubmed/27469509
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-016-9960-y
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