(Q29147428)

English

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

scientific journal article

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scholarly article

1 reference

4 April 2017

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

1 reference

4 April 2017

0 references

Protein phosphatase 1 regulatory subunit 15B

1 reference

GOA release 2020-03-11

negative regulation of protein phosphorylation

1 reference

GOA release 2020-03-11

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

12

object named as

Kym M. Boycott

1 reference

4 April 2017

author name string

Kristin D. Kernohan

1

1 reference

4 April 2017

Martine Tétreault

2

1 reference

4 April 2017

Urszula Liwak-Muir

3

1 reference

4 April 2017

Michael T. Geraghty

4

1 reference

4 April 2017

Wen Qin

5

1 reference

4 April 2017

Sunita Venkateswaran

6

1 reference

4 April 2017

Jorge Davila

7

1 reference

4 April 2017

Care4Rare Canada Consortium

8

1 reference

4 April 2017

Martin Holcik

9

1 reference

4 April 2017

Jacek Majewski

10

1 reference

4 April 2017

Julie Richer

11

1 reference

4 April 2017

publication date

15 November 2015

1 reference

4 April 2017

Human Molecular Genetics

1 reference

4 April 2017

24

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4 April 2017

22

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4 April 2017

6293–6300

1 reference

4 April 2017

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

1 reference

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1 reference

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1 reference

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6 April 2017

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

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Translation matters: protein synthesis defects in inherited disease

1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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6 April 2017

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614701

6 April 2017

Inhibition of a constitutive translation initiation factor 2alpha phosphatase, CReP, promotes survival of stressed cells

1 reference

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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

1 reference

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A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation

1 reference

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6 April 2017

The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614701

6 April 2017

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614701

6 April 2017

Growth arrest and DNA damage-inducible protein GADD34 assembles a novel signaling complex containing protein phosphatase 1 and inhibitor 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614701

6 April 2017

Feedback inhibition of the unfolded protein response by GADD34-mediated dephosphorylation of eIF2alpha

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614701

6 April 2017

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614701

6 April 2017

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

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7 April 2017

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614701

7 April 2017

A subunit of eukaryotic translation initiation factor 2α-phosphatase (CreP/PPP1R15B) regulates membrane traffic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614701

3 June 2018

The mechanism of eukaryotic translation initiation: new insights and challenges

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614701

3 June 2018

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614701

3 June 2018

Adaptive basal phosphorylation of eIF2α is responsible for resistance to cellular stress-induced cell death in Pten-null hepatocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614701

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Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

1 reference

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3 June 2018

Ppp1r15 gene knockout reveals an essential role for translation initiation factor 2 alpha (eIF2alpha) dephosphorylation in mammalian development

1 reference

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Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614701

3 June 2018

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614701

3 June 2018

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614701

3 June 2018

The molecular mechanics of eukaryotic translation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614701

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The function of GADD34 is a recovery from a shutoff of protein synthesis induced by ER stress: elucidation by GADD34-deficient mice

1 reference

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21 January 2018

Identifiers

10.1093/HMG/DDV337

1 reference

4 April 2017

0 references

1 reference

4 April 2017

ResearchGate publication ID

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