Article

An SNP variant MT1-MMP with a defect in its collagenolytic activity confers the fibrotic phenotype of Dupuytren’s Disease

2020-06-12

Abstract excerpt

Dupuytren’s Disease (DD) is a common fibroproliferative disease of the palmar fascia. We previously identified a strong association with a non-synonymous variant (rs1042704, pD273N) in MMP14 (encoding MT1-MMP). We investigated the functional consequences of this variant, and demonstrated that the variant MT1-MMP (MT1-N 273 ) exhibits only 17% of cell surface collagenolytic activity compared to the ancestral enzy...

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Literature Corpus work: b462a345-3777-567a-bb43-9c57866a72bd
DOI: 10.1101/2020.06.09.142513

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