Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome - Finch, Andrew J.; Hilcenko, Christine; Basse, Nicolas; Drynan, Lesley F.; Goyenechea, Beatriz; Menne, Tobias F.; González Fernández, África; Simpson, Paul; D'Santos, Clive S.; Arends, Mark J.; Donadieu, Jean; Bellanné-Chantelot, Christine; et al. (Genes & development, 2011)
Keywords: Animals; Bone Marrow Diseases - genetics; Bone Marrow Diseases - physiopathology; Catalysis; Cells, Cultured; Disease Models, Animal; Eukaryotic Initiation Factors - genetics; Eukaryotic Initiation Factors - metabolism; Exocrine Pancreatic Insufficiency - genetics; Exocrine Pancreatic Insufficiency - physiopathology; Guanosine Triphosphate - metabolism; Humans; Hydrolysis; Lipomatosis; Liver - pathology; Mice; Mice, Inbred C57BL; Models, Molecular; Mutation; Peptide Initiation Factors - genetics; Peptide Initiation Factors - metabolism; Phosphorylation; Protein Binding; Protein Structure, Tertiary; Proteins - chemistry; Proteins - genetics; Proteins - metabolism; Research Paper; Ribosome Subunits, Large, Eukaryotic; Ribosomes - pathology; Shwachman-Diamond Syndrome