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Article

Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.

Scientific reports - 10 Aug 2023

Guang S, O'Brien B M, Fine A S, Ying M, Fatemi A, Nemeth C L

Abstract excerpt

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disorder caused by the mutations in the DARS2 gene, which encodes the mitochondrial aspartyl-tRNA synthetase. The objective of this study was to understand the impact of DARS2 mutations on cell processes through evaluation of LBSL patient stem cell derived cerebral organoids and neurons. We generated...

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Identifiers

PMID: 37563224
DOI: 10.1038/s41598-023-40107-7
PMCID: PMC10415389

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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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