SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention

Ribosomopathies are a family of inherited disorders caused by mutations in genes necessary for ribosomal function. Shwachman-Diamond Bodian Syndrome (SDS) is an autosomal recessive disease caused, in most patients, by mutations of the SBDS gene. SBDS is a protein required for the maturation of 60S r...

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Bibliografiske detaljer
Udgivet i:PLoS Genet
Main Authors: Calamita, Piera, Miluzio, Annarita, Russo, Arianna, Pesce, Elisa, Ricciardi, Sara, Khanim, Farhat, Cheroni, Cristina, Alfieri, Roberta, Mancino, Marilena, Gorrini, Chiara, Rossetti, Grazisa, Peluso, Ivana, Pagani, Massimiliano, Medina, Diego L., Rommens, Johanna, Biffo, Stefano
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2017
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5249248/
https://ncbi.nlm.nih.gov/pubmed/28056084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006552
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