Article
SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.
PLoS genetics - 1 Jan 2017
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
Abstract excerpt
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 ribosomes. SDS patients present exocrine pancreatic insufficiency, neutropenia, chronic infections, and skeletal...
Topics
- Adenosine Triphosphate
- Animals
- Cell Line
- Cell Transformation, Neoplastic
- DNA Damage
- Fibroblasts
- Homeostasis
- Lactic Acid
- Mice