Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Human mitochondrial RNase P (mt-RNase P) is responsible for 5′ end processing of mitochondrial precursor tRNAs, a vital step in mitochondrial RNA maturation, and is comprised of three protein subunits: TRMT10C, SDR5C1 (HSD10), and PRORP. Pathogenic variants in TRMT10C and SDR5C1 are associated with...

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Detalles Bibliográficos
Autores principales: Hochberg, Irit, Demain, Leigh A.M., Richer, Julie, Thompson, Kyle, Urquhart, Jill E., Rea, Alessandro, Pagarkar, Waheeda, Rodríguez-Palmero, Agustí, Schlüter, Agatha, Verdura, Edgard, Pujol, Aurora, Quijada-Fraile, Pilar, Amberger, Albert, Deutschmann, Andrea J., Demetz, Sandra, Gillespie, Meredith, Belyantseva, Inna A., McMillan, Hugh J., Barzik, Melanie, Beaman, Glenda M., Motha, Reeya, Ng, Kah Ying, O’Sullivan, James, Williams, Simon G., Bhaskar, Sanjeev S., Lawrence, Isabella R., Jenkinson, Emma M., Zambonin, Jessica L., Blumenfeld, Zeev, Yalonetsky, Sergey, Oerum, Stephanie, Rossmanith, Walter, Yue, Wyatt W., Zschocke, Johannes, Munro, Kevin J., Battersby, Brendan J., Friedman, Thomas B., Taylor, Robert W., O’Keefe, Raymond T., Newman, William G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8595931/
https://www.ncbi.nlm.nih.gov/pubmed/34715011
http://dx.doi.org/10.1016/j.ajhg.2021.10.002

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