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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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| Foilsithe in: | PLoS Genet |
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| Main Authors: | , , , , , , , , , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Public Library of Science
2017
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| Ábhair: | |
| Rochtain Ar Líne: | 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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