Associated Papers
MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy.
Dang Do AN et al.
Molecular Genetics and Metabolism, 2025
Syndromic forms of congenital hyperinsulinism.
Zenker M et al.
Frontiers in Endocrinology, 2023
37065762 (PubMed )
Supplement: Table_1.xlsx › Other_rare_monogenic_syndromes
The role of eIF2 phosphorylation in cell and organismal physiology: new roles for well-known actors.
Wang X et al.
The Biochemical Journal, 2022
A (dis)integrated stress response: Genetic diseases of eIF2α regulators.
English AM et al.
Wiley Interdisciplinary Reviews. Rna, 2022
Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants.
Moortgat S et al.
Human Mutation, 2021
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
Kotzaeridou U et al.
Clinical Genetics, 2020
The Molecular Basis of Congenital Hypopituitarism and Related Disorders.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB.
Young-Baird SK et al.
Molecular Cell, 2020
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.
Gregory LC et al.
Ebiomedicine, 2019
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