L2hgdh Deficiency Accumulates l-2-Hydroxyglutarate with Progressive Leukoencephalopathy and Neurodegeneration

l-2-Hydroxyglutarate aciduria (L-2-HGA) is an autosomal recessive neurometabolic disorder caused by a mutation in the l-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. In this study, we generated L2hgdh knockout (KO) mice and observed a robust increase of l-2-hydroxyglutarate (L-2-HG) levels in mult...

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Publié dans:Mol Cell Biol
Auteurs principaux: Ma, Shenghong, Sun, Renqiang, Jiang, Bowen, Gao, Jun, Deng, Wanglong, Liu, Peng, He, Ruoyu, Cui, Jing, Ji, Minbiao, Yi, Wei, Yang, Pengyuan, Wu, Xiaohui, Xiong, Yue, Qiu, Zilong, Ye, Dan, Guan, Kun-Liang
Format: Artigo
Langue:Inglês
Publié: American Society for Microbiology 2017
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5376639/
https://ncbi.nlm.nih.gov/pubmed/28137912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.00492-16
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