Associated Papers
MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy.
Dang Do AN et al.
Molecular Genetics and Metabolism, 2025
Binding of human Cdc123 to eIF2γ.
Cardenal Peralta C et al.
Journal of Structural Biology, 2023
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
Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB.
Young-Baird SK et al.
Molecular Cell, 2020
MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2.
Young-Baird SK et al.
Nucleic Acids Research, 2019
Neuronal Regulation of eIF2α Function in Health and Neurological Disorders.
Moon SL et al.
Trends in Molecular Medicine, 2018
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Skopkova M et al.
Human Mutation, 2017
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
Moortgat S et al.
American Journal of Medical Genetics. Part A, 2016
Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.
Hunter JM et al.
American Journal of Medical Genetics. Part A, 2015
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Borck G et al.
Molecular Cell, 2012
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