(Q30497960)

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An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia.

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1 February 2020

An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia (English)

1 reference

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1 February 2020

David J. Thornton

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1 February 2020

Raymond P Boot-Handford

8

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1 February 2020

author name string

Seema Nundlall

1

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1 February 2020

M Helen Rajpar

2

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1 February 2020

Peter A Bell

3

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1 February 2020

Christopher Clowes

4

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1 February 2020

Leo A H Zeeff

5

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1 February 2020

Benjamin Gardner

6

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1 February 2020

Michael D Briggs

9

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1 February 2020

publication date

30 April 2010

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1 February 2020

Cell Stress & Chaperones

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1 February 2020

15

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1 February 2020

6

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1 February 2020

835-849

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1 February 2020

https://scigraph.springernature.com/pub.10.1007/s12192-010-0193-y

0 references

The unfolded protein response and its relevance to connective tissue diseases.

1 reference

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20 June 2018

Targeted induction of endoplasmic reticulum stress induces cartilage pathology

1 reference

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20 June 2018

CRELD2 is a novel endoplasmic reticulum stress-inducible gene

1 reference

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20 June 2018

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

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20 June 2018

Herp enhances ER-associated protein degradation by recruiting ubiquilins

1 reference

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20 June 2018

Substrate recognition by the protein disulfide isomerases

1 reference

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20 June 2018

Chemical chaperones reduce endoplasmic reticulum stress and prevent mutant HFE aggregate formation

1 reference

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20 June 2018

Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

ARMET is a soluble ER protein induced by the unfolded protein response via ERSE-II element

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

Chemical chaperones reduce ER stress and restore glucose homeostasis in a mouse model of type 2 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

The cysteine-rich with EGF-like domains 2 (CRELD2) protein interacts with the large cytoplasmic domain of human neuronal nicotinic acetylcholine receptor alpha4 and beta2 subunits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

The matrilins--adaptor proteins in the extracellular matrix

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

Endoplasmic reticulum stress links obesity, insulin action, and type 2 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

A trip to the ER: coping with stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

Orchestrating the unfolded protein response in health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

Mice with a homozygous deletion of the Mgat2 gene encoding UDP-N-acetylglucosamine:alpha-6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II: a model for congenital disorder of glycosylation type IIa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

International nosology and classification of constitutional disorders of bone (2001).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

Molecular-pathogenetic classification of genetic disorders of the skeleton

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

Pseudoachondroplastic dysplasia: an Iowa review from human to mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

Stress signaling from the lumen of the endoplasmic reticulum: coordination of gene transcriptional and translational controls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

Primary structure of matrilin-3, a new member of a family of extracellular matrix proteins related to cartilage matrix protein (matrilin-1) and von Willebrand factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development

1 reference

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20 June 2018

Sodium butyrate inhibits histone deacetylation in cultured cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

20 June 2018

Armet, a UPR-upregulated protein, inhibits cell proliferation and ER stress-induced cell death.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

26 November 2018

Sodium phenylbutyrate prolongs survival and regulates expression of anti-apoptotic genes in transgenic amyotrophic lateral sclerosis mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024081

26 November 2018

A Phase I clinical and pharmacological evaluation of sodium phenylbutyrate on an 120-h infusion schedule

1 reference

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26 November 2018

Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3

1 reference

https://pubmed.ncbi.nlm.nih.gov/20428984

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transgenic mice expressing D469Delta mutated cartilage oligomeric matrix protein (COMP) show growth plate abnormalities and sternal malformations

1 reference

https://pubmed.ncbi.nlm.nih.gov/20428984

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sodium 4-phenylbutyrate downregulates Hsc70: implications for intracellular trafficking of DeltaF508-CFTR

1 reference

https://pubmed.ncbi.nlm.nih.gov/20428984

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S12192-010-0193-Y

1 reference

Europe PubMed Central

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1 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20428984%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20428984%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

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