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Article

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.

Human mutation - 1 Feb 2008

Fresquet Maryline, Jackson Gail C, Loughlin John, Briggs Michael D

Abstract excerpt

Multiple epiphyseal dysplasia (MED) is a clinically variable and genetically heterogeneous chondrodysplasia characterized by mild to moderate short stature and early onset osteoarthritis. Some forms of MED result from mutations in the gene encoding the cartilage structural protein matrilin-3 (MATN3). The majority of MATN3 mutations affect conserved residues within the beta-sheet of the single A-domain of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18205203
DOI: 10.1002/humu.9518

Genes

MATN3

Variants

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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.PMID 18205203Read ↗

Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.Semantic proximity Read ↗

A matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrils.Semantic proximity Read ↗

Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not.Semantic proximity Read ↗

Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation.Semantic proximity Read ↗

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

A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms of Ehlers-Danlos hypermobile syndrome.Semantic proximity Read ↗

Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseasesSemantic proximity Read ↗

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.Semantic proximity Read ↗

Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasiaSemantic proximity Read ↗

Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases.Semantic proximity Read ↗

B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.Semantic proximity Read ↗

Characterization of Human Matrilin-3 (MATN3)Semantic proximity Read ↗

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