D-2-hydroxyglutarate produced by mutant IDH1 perturbs collagen maturation and basement membrane function

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. Surprising...

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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2012
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Research Paper
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3444730/
https://ncbi.nlm.nih.gov/pubmed/22925884
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gad.198200.112
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