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

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Endoplasmic reticulum stress and eIF2α phosphorylation: The Achilles heel of pancreatic β cells.Analysis of eIF2B bodies and their relationships with stress granules and P-bodies

P2860

Q41689677-A415D428-87CC-4DAD-BA54-E2A9995D3B48 Q58774439-E4603E23-0FA0-4659-8B21-359F1F9FDF1D

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

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http://www.wikidata.org/entity/Q41921225

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

@yue

2017年論文

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2017年論文

@zh-hk

2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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name

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

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type

Item

label

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

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prefLabel

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

@en

P1476

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

@en

P2093

Armand Bottani

http://www.w3.org/2001/XMLSchema#string

Byung-Sik Shin

http://www.w3.org/2001/XMLSchema#string

Clesson E Turner

http://www.w3.org/2001/XMLSchema#string

Daniela Gasperikova

http://www.w3.org/2001/XMLSchema#string

Daniela Stanikova

http://www.w3.org/2001/XMLSchema#string

Daniela Steinberger

http://www.w3.org/2001/XMLSchema#string

Esther Leshinsky-Silver

http://www.w3.org/2001/XMLSchema#string

Friederike Hennig

http://www.w3.org/2001/XMLSchema#string

Guntram Borck

http://www.w3.org/2001/XMLSchema#string

Iwar Klimes

http://www.w3.org/2001/XMLSchema#string

P2860

Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients

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

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

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

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

X-ray structure of translation initiation factor eIF2gamma: implications for tRNA and eIF2alpha binding

Signal integration in the endoplasmic reticulum unfolded protein response

A hierarchy of trans-acting factors modulates translation of an activator of amino acid biosynthetic genes in Saccharomyces cerevisiae

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

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

P304

409-425

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scholarly article

P356

10.1002/HUMU.23170

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http://www.w3.org/2001/XMLSchema#string

P478

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2017-01-05T00:00:00Z

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28055140

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P921

disability

P932

6267786

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

about

P2860

P2860

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

description

name

type

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prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921

P932