Associated Papers
Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathway.
Woods S et al.
Osteoarthritis and Cartilage, 2026
Elevated MMP9 Expression-A Potential In Vitro Biomarker for COMPopathies.
Dietmar HF et al.
International Journal of Molecular Sciences, 2025
From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.
Dennis EP et al.
International Journal of Molecular Sciences, 2025
Curcumin Reduces Pathological Endoplasmic Reticulum Stress through Increasing Proteolysis of Mutant Matrilin-3.
Dennis EP et al.
International Journal of Molecular Sciences, 2023
Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias.
Pretemer Y et al.
Stem Cell Reports, 2021
A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.
Ho TT et al.
Bmc Musculoskeletal Disorders, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease.
Piróg KA et al.
Plos Genetics, 2019
New therapeutic targets in rare genetic skeletal diseases.
Briggs MD et al.
Expert Opinion on Orphan Drugs, 2015
The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review).
Briggs MD et al.
International Journal of Molecular Medicine, 2015
Increased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth.
Kung LH et al.
Plos One, 2015
Matrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-β in chondroprogenitor cells.
Jayasuriya CT et al.
International Journal of Molecular Sciences, 2014
Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia.
Patterson SE et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2014
Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases.
Hartley CL et al.
Human Molecular Genetics, 2013
A novel transgenic mouse model of growth plate dysplasia reveals that decreased chondrocyte proliferation due to chronic ER stress is a key factor in reduced bone growth.
Gualeni B et al.
Disease Models & Mechanisms, 2013
Analysis of the cartilage proteome from three different mouse models of genetic skeletal diseases reveals common and discrete disease signatures.
Bell PA et al.
Biology Open, 2013
Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases.
Piróg KA et al.
Plos One, 2013
Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation.
Bell PA et al.
Arthritis and Rheumatism, 2012
An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia.
Nundlall S et al.
Cell Stress & Chaperones, 2010
The unfolded protein response and its relevance to connective tissue diseases.
Boot-Handford RP et al.
Cell and Tissue Research, 2010
Multiple functions of the von Willebrand Factor A domain in matrilins: secretion, assembly, and proteolysis.
Zhang Y et al.
Journal of Orthopaedic Surgery and Research, 2008
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.
Fresquet M et al.
Human Mutation, 2008
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.
Leighton MP et al.
Human Molecular Genetics, 2007
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.
Mabuchi A et al.
Human Mutation, 2004
Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
Borochowitz ZU et al.
Journal of Medical Genetics, 2004
Matrilin-3 is dispensable for mouse skeletal growth and development.
Ko Y et al.
Molecular and Cellular Biology, 2004
Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up.
Mostert AK et al.
American Journal of Medical Genetics. Part A, 2003
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD et al.
Human Mutation, 2002
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
Chapman KL et al.
Nature Genetics, 2001
Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.
Chapman KL et al.
Pediatric Pathology & Molecular Medicine, 0
The cytoprotective protein MANF promotes neuronal survival independently from its role as a GRP78 cofactor.
Eesmaa A et al.
The Journal of Biological Chemistry, 0