Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

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...

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Detalles Bibliográficos
Autores principales: Gregory, Louise C., Ferreira, Carolina B., Young-Baird, Sara K., Williams, Hywel J., Harakalova, Magdalena, van Haaften, Gijs, Rahman, Sofia A., Gaston-Massuet, Carles, Kelberman, Daniel, GOSgene, Qasim, Waseem, Camper, Sally A., Dever, Thomas E., Shah, Pratik, Robinson, Iain C.A.F., Dattani, Mehul T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Research paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6492072/
https://www.ncbi.nlm.nih.gov/pubmed/30878599
http://dx.doi.org/10.1016/j.ebiom.2019.03.013

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