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

[1]  B. Shin,et al.  MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2 , 2018, Nucleic acids research.

[2]  M. Skopkova,et al.  Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. , 2018, Physiological research.

[3]  S. Haas,et al.  EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO , 2017, Human mutation.

[4]  L. Gregory.  Investigation of new candidate genes in a cohort of patients with familial congenital hypopituitarism and associated disorders , 2017 .

[5]  H. Pendeville,et al.  Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy , 2016, American journal of medical genetics. Part A.

[6]  Colin Echeverría Aitken,et al.  Conformational Differences between Open and Closed States of the Eukaryotic Translation Initiation Complex , 2015, Molecular cell.

[7]  Alan G Hinnebusch,et al.  The scanning mechanism of eukaryotic translation initiation. , 2014, Annual review of biochemistry.

[8]  P. Flatt,et al.  Cellular responses of novel human pancreatic β-cell line, 1.1B4 to hyperglycemia , 2013, Islets.

[9]  A. Munnich,et al.  eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. , 2012, Molecular cell.

[10]  M. Hamid,et al.  Configuration of electrofusion-derived human insulin-secreting cell line as pseudoislets enhances functionality and therapeutic utility. , 2012, The Journal of endocrinology.

[11]  R. Schiffmann,et al.  Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter , 2012 .

[12]  E. Cuppen,et al.  Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing , 2011, Nature Protocols.

[13]  A. Hinnebusch,et al.  Molecular Mechanism of Scanning and Start Codon Selection in Eukaryotes , 2011, Microbiology and Molecular Reviews.

[14]  R. Gomis,et al.  Development and Functional Characterization of Insulin-releasing Human Pancreatic Beta Cell Lines Produced by Electrofusion* , 2011, The Journal of Biological Chemistry.

[15]  A. Hinnebusch,et al.  Regulation of Translation Initiation in Eukaryotes: Mechanisms and Biological Targets , 2009, Cell.

[16]  C. Cao,et al.  Translation Initiation Factor 2γ Mutant Alters Start Codon Selection Independent of Met-tRNA Binding , 2008, Molecular and Cellular Biology.

[17]  F. Urano,et al.  The Role of Nitric Oxide and the Unfolded Protein Response in Cytokine-Induced β-Cell Death , 2008, Diabetes.

[18]  Y. Mechulam,et al.  Structure of an archaeal heterotrimeric initiation factor 2 reveals a nucleotide state between the GTP and the GDP states , 2007, Proceedings of the National Academy of Sciences.

[19]  A. Hinnebusch.  Translational regulation of GCN4 and the general amino acid control of yeast. , 2005, Annual review of microbiology.

[20]  D. Scheuner,et al.  Control of mRNA translation preserves endoplasmic reticulum function in beta cells and maintains glucose homeostasis , 2005, Nature Medicine.

[21]  M. Katze,et al.  Pancreatic (cid:1) -Cell Failure and Diabetes in Mice With a Deletion Mutation of the Endoplasmic Reticulum Molecular Chaperone Gene P58 IPK , 2022 .

[22]  Wei Li,et al.  Mutations Linked to Leukoencephalopathy with Vanishing White Matter Impair the Function of the Eukaryotic Initiation Factor 2B Complex in Diverse Ways , 2004, Molecular and Cellular Biology.

[23]  E McEwen,et al.  Translational control is required for the unfolded protein response and in vivo glucose homeostasis. , 2001, Molecular cell.

[24]  U. Müller,et al.  MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to Xp21.1–p22.13 , 1998, European Journal of Human Genetics.

[25]  Han-kuei Huang,et al.  GTP hydrolysis controls stringent selection of the AUG start codon during translation initiation in Saccharomyces cerevisiae. , 1997, Genes & development.

[26]  R. Wek,et al.  The histidyl-tRNA synthetase-related sequence in the eIF-2 alpha protein kinase GCN2 interacts with tRNA and is required for activation in response to starvation for different amino acids , 1995, Molecular and cellular biology.

[27]  D. Dorris,et al.  Mutations in GCD11, the structural gene for eIF‐2 gamma in yeast, alter translational regulation of GCN4 and the selection of the start site for protein synthesis. , 1995, The EMBO journal.

[28]  T. Kinzy,et al.  GCD11, a negative regulator of GCN4 expression, encodes the gamma subunit of eIF-2 in Saccharomyces cerevisiae , 1993, Molecular and cellular biology.

[29]  A. Hinnebusch,et al.  Association of RAP1 binding sites with stringent control of ribosomal protein gene transcription in Saccharomyces cerevisiae , 1991, Molecular and cellular biology.

[30]  A. Cigan,et al.  Genetic selection for mutations that reduce or abolish ribosomal recognition of the HIS4 translational initiator region , 1988, Molecular and cellular biology.

[31]  G. Natsoulis,et al.  5-Fluoroorotic acid as a selective agent in yeast molecular genetics. , 1987, Methods in enzymology.

[32]  A. Hinnebusch.  A hierarchy of trans-acting factors modulates translation of an activator of amino acid biosynthetic genes in Saccharomyces cerevisiae , 1985, Molecular and cellular biology.