A common SNP risk variant MT1-MMP causative for Dupuytren's disease has a specific defect in collagenolytic activity

•Previously we identified a causal association of Dupuytren's Disease (DD) with a non-synonymous SNP variant (rs1042704, p.D273N) of MT1-MMP.•We discovered that this SNP variant MT1-MMP (MT1-N273) exhibits only 17% of cell surface collagenolytic activity compared to the ancestral form of MT1-MM...

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Veröffentlicht in:	Matrix biology 2021-03, Vol.97, p.20-39
Hauptverfasser:	Itoh, Yoshifumi, Ng, Michael, Wiberg, Akira, Inoue, Katsuaki, Hirata, Narumi, Paiva, Katiucia Batista Silva, Ito, Noriko, Dzobo, Kim, Sato, Nanami, Gifford, Valentina, Fujita, Yasuyuki, Inada, Masaki, Furniss, Dominic
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Animals Biochemistry & Molecular Biology Cell Biology Cell surface Chlorocebus aethiops Collagen Collagen - metabolism Collagen degradation Conformation COS Cells Dupuytren Contracture - genetics Dupuytren Contracture - metabolism Dupuytren's disease Fascia Genotypes Homeostasis Humans Life Sciences & Biomedicine Matrix Metalloproteinase 14 - chemistry Matrix Metalloproteinase 14 - genetics Matrix Metalloproteinase 14 - metabolism Mimicry Models, Molecular MT1-MMP Phenotypes Polymorphism, Single Nucleotide Population genetics Protein Conformation Protein Domains rs1042704 Scattering, Small Angle Science & Technology SNP X-Ray Diffraction X-ray scattering
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