Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare, slowly progressive white matter disease caused by mutations in the mitochondrial aspartyl-tRNA synthetase (mt-AspRS, or DARS2). While patients show characteristic MRI T2 signal abnormalities throu...

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Udgivet i:Exp Neurol
Main Authors: Nemeth, Christina L, Tomlinson, Sophia N, Rosen, Melissa, O’Brien, Brett M, Larraza, Oscar, Jain, Mahim, Murray, Connor F, Marx, Joel S, Delannoy, Michael, Fine, Amena S, Wu, Dan, Trifunovic, Aleksandra, Fatemi, Ali
Format: Artigo
Sprog:Inglês
Udgivet: 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7448750/
https://ncbi.nlm.nih.gov/pubmed/31887305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.expneurol.2019.113164
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