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Article

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

PloS one - 1 Jan 2019

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

Abstract excerpt

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 synthetase. As mitochondrial ARSs are key components of the mitochondrial translation apparatus, we investigated the...

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Identifiers

PMID: 31671122
DOI: 10.1371/journal.pone.0224173
PMCID: PMC6822708

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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