Mitochondrial dysfunctions in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)

Several inherited human diseases have been linked to mitochondrial aminoacyl-tRNA synthetases (mtARSs). Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a leukodystrophy caused by mutations in the DARS2 gene which encodes mitochondrial aspartyl-tRNA synt...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: Lin, Tsu-Kung, Chang, Yung-Yee, Lin, Hung-Yu, Liou, Chia-Wei, Wang, Pei-Wen, Chuang, Jiin-Haur, Chen, Shang-Der, Chuang, Yao-Chung, Huang, Sheng-Teng, Hsu, Te-Yao, Peng, Cheng-Huei, Lan, Min-Yu
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2019
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6822708/
https://ncbi.nlm.nih.gov/pubmed/31671122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0224173
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