Human SHQ1 variants R335C and A426V lead to severe ribosome biogenesis defects when expressed in yeast

SHQ1 is an essential chaperone that binds the pseudouridine synthase dyskerin in the cytoplasm and escorts the enzyme to the nucleus, where dyskerin is assembled into small nucleolar RNPs (snoRNPs) of the H/ACA class. These particles carry out pseudouridine formation in ribosomal RNAs (rRNAs) and pa...

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Detalles Bibliográficos
Autores principales: Alidou-D’Anjou, Ismaël, Patel, Aniket, Sleiman, Sophie, Dragon, François
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10560722/
https://www.ncbi.nlm.nih.gov/pubmed/37818102
http://dx.doi.org/10.3389/fgene.2023.1240416

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10560722/
https://www.ncbi.nlm.nih.gov/pubmed/37818102
http://dx.doi.org/10.3389/fgene.2023.1240416

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