Article

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

2023-02-27

Abstract excerpt

Leukoencephalopathy with brain stem 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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Literature Corpus work: 139509c5-e6b7-5e07-9cda-6f247a8043b8
DOI: 10.21203/rs.3.rs-2603446/v1

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