RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

Mitochondrial DNA (mtDNA) depletion/deletions syndromes (MDDS) encompass a clinically and etiologically heterogenous group of mitochondrial disorders caused by impaired mtDNA maintenance. Among the most frequent causes of MDDS are defects in nucleoside/nucleotide metabolism, which is critical for sy...

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Detalles Bibliográficos
Autores principales: Shintaku, Jonathan, Pernice, Wolfgang M., Eyaid, Wafaa, GC, Jeevan B., Brown, Zuben P., Juanola-Falgarona, Marti, Torres-Torronteras, Javier, Sommerville, Ewen W., Hellebrekers, Debby M.E.I., Blakely, Emma L., Donaldson, Alan, van de Laar, Ingrid, Leu, Cheng-Shiun, Marti, Ramon, Frank, Joachim, Tanji, Kurenai, Koolen, David A., Rodenburg, Richard J., Chinnery, Patrick F., Smeets, H.J.M., Gorman, Gráinne S., Bonnen, Penelope E., Taylor, Robert W., Hirano, Michio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9246377/
https://www.ncbi.nlm.nih.gov/pubmed/35617047
http://dx.doi.org/10.1172/JCI145660

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