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

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 mutation...

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Detalles Bibliográficos
Autores principales: Guang, Shiqi, O’Brien, Brett, Fine, Amena Smith, Ying, Mingyao, Fatemi, Ali, Nemeth, Christina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Journal Experts 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10002802/
https://www.ncbi.nlm.nih.gov/pubmed/36909591
http://dx.doi.org/10.21203/rs.3.rs-2603446/v1

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