A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria t...
A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model
About this item
Full title
Author / Creator
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 and Jin, Shengfang
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
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, developmental delay and limited life spa...
Alternative Titles
Full title
A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5065612
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5065612
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-016-9960-y
