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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Mol Cell Biol
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Microbiology 2017
Soggetti:
Research Article
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi