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

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...

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Detalles Bibliográficos
Autores principales: Guang, S., O’Brien, B. M., Fine, A. S., Ying, M., Fatemi, A., Nemeth, C. L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10415389/
https://www.ncbi.nlm.nih.gov/pubmed/37563224
http://dx.doi.org/10.1038/s41598-023-40107-7

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