EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. (Q41921225)

14 October 2017

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO (English)

1 reference

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X-linked intellectual disability

13 May 2020

main subject

disability

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disability affecting intellectual abilities

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26

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Martina Skopkova

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Lyndal Henden

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Jozef Ukropec

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Stefan Haas

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Thomas Dever

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Esther Leshinsky-Silver

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object named as

Esther Leshinsky-Silver

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4

Clesson E Turner

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author name string

Friederike Hennig

2

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Daniela Stanikova

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Juraj Stanik

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Ute Fischer

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Ulrich Müller

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Daniela Steinberger

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Armand Bottani

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Timea Kurdiova

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Olga Nyitrayova

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Miriam Kolnikova

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Iwar Klimes

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Guntram Borck

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Melanie Bahlo

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Joo-Ran Kim

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13 May 2020

publication date

5 January 2017

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14 October 2017

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13 May 2020

volume

38

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13 May 2020

page(s)

409-425

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issue

4

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describes a project that uses

13 May 2020

ImageJ

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11 June 2022

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inferred from PubMed Central ID database lookup

cites work

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A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

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eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

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A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans

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Mutational analysis of the HIS4 translational initiator region in Saccharomyces cerevisiae

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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

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Genetic selection for mutations that reduce or abolish ribosomal recognition of the HIS4 translational initiator region

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Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS.

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Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome

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WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells

21 January 2018

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Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

21 January 2018

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Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1

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Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in secretory cell survival

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Translational regulation of GCN4 and the general amino acid control of yeast

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The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in β-cells

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Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability

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Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability

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Translation reinitiation at alternative open reading frames regulates gene expression in an integrated stress response

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Selection of autophagy or apoptosis in cells exposed to ER-stress depends on ATF4 expression pattern with or without CHOP expression

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Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.

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New insights into translational regulation in the endoplasmic reticulum unfolded protein response

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Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors

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21 January 2018

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Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families

21 January 2018

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Childhood ataxia with diffuse central nervous system hypomyelination.

21 January 2018

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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

21 January 2018

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Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder

21 January 2018

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21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

C/EBP homology protein (CHOP) interacts with activating transcription factor 4 (ATF4) and negatively regulates the stress-dependent induction of the asparagine synthetase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

21 January 2018

1 reference

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Integrating the mechanisms of apoptosis induced by endoplasmic reticulum stress

21 January 2018

1 reference

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Surviving endoplasmic reticulum stress is coupled to altered chondrocyte differentiation and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

The unfolded protein response in vanishing white matter disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Reinitiation involving upstream ORFs regulates ATF4 mRNA translation in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Fright is a provoking factor in vanishing white matter disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

The endoplasmic reticulum stress response in the pancreatic β-cell

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

The unfolded protein response: from stress pathway to homeostatic regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Upstream Open Reading Frames Differentially Regulate Gene-specific Translation in the Integrated Stress Response

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

PERK EIF2AK3 control of pancreatic beta cell differentiation and proliferation is required for postnatal glucose homeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23170

Genetic characterization of the Saccharomyces cerevisiae translational initiation suppressors sui1, sui2 and SUI3 and their effects on HIS4 expression

21 January 2018

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12 December 2020

High-resolution respirometry: OXPHOS protocols for human cells and permeabilized fibers from small biopsies of human muscle

1 reference

12 December 2020

Microencephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: a new syndrome?

1 reference

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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.

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.23170

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6267786&resulttype=core&format=json

13 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6267786&resulttype=core&format=json

13 May 2020

1 reference