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Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.
Wünnemann F, Ta-Shma A, Preuss C, Leclerc S, van Vliet PP, Oneglia A, Thibeault M, Nordquist E, Lincoln J, Scharfenberg F, Becker-Pauly C, Hofmann P, Hoff K, Audain E, Kramer HH, Makalowski W, Nir A, Gerety SS, Hurles M, Comes J, Fournier A, Osinska H, Robins J, Pucéat M; MIBAVA Leducq Consortium principal investigators; Elpeleg O, Hitz MP, Andelfinger G. Wünnemann F, et al. Nat Genet. 2020 Jan;52(1):40-47. doi: 10.1038/s41588-019-0536-2. Epub 2019 Dec 16. Nat Genet. 2020. PMID: 31844321 Free PMC article.
Metalloproteases meprin α and meprin β are C- and N-procollagen proteinases important for collagen assembly and tensile strength.
Broder C, Arnold P, Vadon-Le Goff S, Konerding MA, Bahr K, Müller S, Overall CM, Bond JS, Koudelka T, Tholey A, Hulmes DJ, Moali C, Becker-Pauly C. Broder C, et al. Proc Natl Acad Sci U S A. 2013 Aug 27;110(35):14219-24. doi: 10.1073/pnas.1305464110. Epub 2013 Aug 12. Proc Natl Acad Sci U S A. 2013. PMID: 23940311 Free PMC article.
Meprin β cleaves TREM2 and controls its phagocytic activity on macrophages.
Berner DK, Wessolowski L, Armbrust F, Schneppenheim J, Schlepckow K, Koudelka T, Scharfenberg F, Lucius R, Tholey A, Kleinberger G, Haass C, Arnold P, Becker-Pauly C. Berner DK, et al. FASEB J. 2020 May;34(5):6675-6687. doi: 10.1096/fj.201902183R. Epub 2020 Apr 1. FASEB J. 2020. PMID: 32237095
104 results