Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3 (Q24651381)

1

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Gail C Jackson

2

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Matthew P Leighton

3

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Raimund Wagener

4

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William G Cole

6

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Michael D Briggs

Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD

7

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language of work or name

English

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publication date

December 2005

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published in

Human Mutation

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volume

26

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issue

6

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page(s)

557-65

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cites work

1 reference

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Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias

7 April 2017

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

7 April 2017

1 reference

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Genomewide Scan for Hand Osteoarthritis: A Novel Mutation in Matrilin-3

7 April 2017

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Distribution and evolution of von Willebrand/integrin A domains: widely dispersed domains with roles in cell adhesion and elsewhere

7 April 2017

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A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity

7 April 2017

1 reference

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COL9A3: A third locus for multiple epiphyseal dysplasia

7 April 2017

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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

7 April 2017

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ERp72, an abundant luminal endoplasmic reticulum protein, contains three copies of the active site sequences of protein disulfide isomerase

7 April 2017

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A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype

7 April 2017

1 reference

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

7 April 2017

1 reference

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Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments

7 April 2017

2 references

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7 April 2017

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Ligand recognition by the I domain-containing integrins

28 November 2018

1 reference

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Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

7 April 2017

1 reference

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Multiple molecular chaperones complex with misfolded large oligomeric glycoproteins in the endoplasmic reticulum

7 April 2017

1 reference

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A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726956

WARP is a new member of the von Willebrand factor A-domain superfamily of extracellular matrix proteins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726956

The matrilins--adaptor proteins in the extracellular matrix

7 April 2017

1 reference

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COMP mutations, chondrocyte function and cartilage matrix

28 September 2017

1 reference

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Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726956

Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways

28 September 2017

1 reference

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Domain structure and organisation in extracellular matrix proteins.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726956

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726956

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726956

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726956

The protein disulphide-isomerase family: unravelling a string of folds

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726956

Characterization of human matrilin-3 (MATN3).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726956

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726956

Matrilin-3 forms disulfide-linked oligomers with matrilin-1 in bovine epiphyseal cartilage

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726956

The thioredoxin-like fold: hidden domains in protein disulfide isomerases and other chaperone proteins

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726956

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726956

Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726956

Ser968Thr mutation within the A3 domain of von Willebrand factor (VWF) in two related patients leads to a defective binding of VWF to collagen.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2726956

Molecular structure and tissue distribution of matrilin-3, a filament-forming extracellular matrix protein expressed during skeletal development

28 November 2018

1 reference

12 December 2020

Calreticulin, PDI, Grp94 and BiP chaperone proteins are associated with retained COMP in pseudoachondroplasia chondrocytes

1 reference

12 December 2020

Disease-causing mutations in cartilage oligomeric matrix protein cause an unstructured Ca2+ binding domain

1 reference

12 December 2020

Apoptosis staining in cultured pseudoachondroplasia chondrocytes

1 reference

12 December 2020

Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up

1 reference

12 December 2020

A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.20263

1 reference

1 reference

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PubMed publication ID

16287128

1 reference