Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulationResearch in context

Background: The heterotrimeric GTP-binding protein eIF2 forms a ternary complex with initiator methionyl-tRNA and recruits it to the 40S ribosomal subunit for start codon selection and thereby initiates protein synthesis. Mutations in EIF2S3, encoding the eIF2γ subunit, are associated with severe in...

Full description

Bibliographic Details
Main Authors: Louise C. Gregory, Carolina B. Ferreira, Sara K. Young-Baird, Hywel J. Williams, Magdalena Harakalova, Gijs van Haaften, Sofia A. Rahman, Carles Gaston-Massuet, Daniel Kelberman, GOSgene, Waseem Qasim, Sally A. Camper, Thomas E. Dever, Pratik Shah, Iain C.A.F. Robinson, Mehul T. Dattani
Format: Article
Language:English
Published: Elsevier 2019-04-01
Series:EBioMedicine
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396419301537