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

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...

Full description

Bibliographic Details
Main Authors: Piera Calamita, Annarita Miluzio, Arianna Russo, Elisa Pesce, Sara Ricciardi, Farhat Khanim, Cristina Cheroni, Roberta Alfieri, Marilena Mancino, Chiara Gorrini, Grazisa Rossetti, Ivana Peluso, Massimiliano Pagani, Diego L Medina, Johanna Rommens, Stefano Biffo
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-01-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC5249248?pdf=render

Internet

http://europepmc.org/articles/PMC5249248?pdf=render

Similar Items