A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

RNA polymerase I transcribes ribosomal DNA to produce precursor 47S rRNA. Post-transcriptional processing of this rRNA generates mature 28S, 18S and 5.8S rRNAs, which form the ribosomes, together with 5S rRNA, assembly factors and ribosomal proteins. We previously reported a homozygous variant in th...

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Detalles Bibliográficos
Autores principales: Misceo, Doriana, Lirussi, Lisa, Strømme, Petter, Sumathipala, Dulika, Guerin, Andrea, Wolf, Nicole I, Server, Andres, Stensland, Maria, Dalhus, Bjørn, Tolun, Aslıhan, Kroes, Hester Y, Nyman, Tuula A, Nilsen, Hilde L, Frengen, Eirik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393412/
https://www.ncbi.nlm.nih.gov/pubmed/36917474
http://dx.doi.org/10.1093/brain/awad086

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393412/
https://www.ncbi.nlm.nih.gov/pubmed/36917474
http://dx.doi.org/10.1093/brain/awad086

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