Article
Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation.
Arthritis and rheumatism - 1 May 2012
Bell Peter A, Piróg Katarzyna A, Fresquet Maryline, Thornton David J, Boot-Handford Raymond P, Briggs Michael D
Abstract excerpt
OBJECTIVE: Mutations in matrilin 3 can result in multiple epiphyseal dysplasia (MED), a disease characterized by delayed and irregular bone growth and early-onset osteoarthritis. Although intracellular retention of the majority of mutant matrilin 3 was previously observed in a murine model of MED caused by a Matn3 V194D mutation, some mutant protein was secreted into the extracellular matrix. Thus, it was...
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