Article
D-2-hydroxyglutarate produced by mutant IDH1 perturbs collagen maturation and basement membrane function.
Genes & development - 15 Sept 2012
Sasaki Masato, Knobbe Christiane B, Itsumi Momoe, Elia Andrew J, Harris Isaac S, Chio Iok In Christine, Cairns Rob A, McCracken Susan, Wakeham Andrew, Haight Jillian, Ten Annick You, Snow Bryan, Ueda Takeshi, Inoue Satoshi, Yamamoto Kazuo, Ko Myunggon, Rao Anjana, Yen Katharine E, Su Shinsan M, Mak Tak Wah
Abstract excerpt
Isocitrate dehydrogenase-1 (IDH1) R132 mutations occur in glioma, but their physiological significance is unknown. Here we describe the generation and characterization of brain-specific Idh1 R132H conditional knock-in (KI) mice. Idh1 mutation results in hemorrhage and perinatal lethality. Surprisingly, intracellular reactive oxygen species (ROS) are attenuated in Idh1-KI brain cells despite an apparent increase...
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