Associated Papers
MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy.
Dang Do AN et al.
Molecular Genetics and Metabolism, 2025
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
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.
Gregory LC et al.
Ebiomedicine, 2019
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
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