Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy

Transcription of mitochondrial DNA generates long polycistronic precursors whose nucleolytic cleavage yields the individual mtDNA-encoded transcripts. In most cases, this cleavage occurs at the 5′- and 3′-ends of tRNA sequences by the concerted action of RNAseP and RNaseZ/ELAC2 endonucleases, respec...

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Detalles Bibliográficos
Autores principales: Cafournet, Cérane, Zanin, Sofia, Guimier, Anne, Hully, Marie, Assouline, Zahra, Barcia, Giulia, de Lonlay, Pascale, Steffann, Julie, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès, Ruzzenente, Benedetta, Metodiev, Metodi D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9958991/
https://www.ncbi.nlm.nih.gov/pubmed/36836802
http://dx.doi.org/10.3390/life13020445

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9958991/
https://www.ncbi.nlm.nih.gov/pubmed/36836802
http://dx.doi.org/10.3390/life13020445

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