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EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B. Adamo CS, et al. Among authors: bonaldo p. Am J Hum Genet. 2022 Dec 1;109(12):2230-2252. doi: 10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8. Am J Hum Genet. 2022. PMID: 36351433 Free PMC article.
EMILIN-1 deficiency induces elastogenesis and vascular cell defects.
Zanetti M, Braghetta P, Sabatelli P, Mura I, Doliana R, Colombatti A, Volpin D, Bonaldo P, Bressan GM. Zanetti M, et al. Among authors: bonaldo p. Mol Cell Biol. 2004 Jan;24(2):638-50. doi: 10.1128/MCB.24.2.638-650.2004. Mol Cell Biol. 2004. PMID: 14701737 Free PMC article.
Three novel collagen VI chains with high homology to the alpha3 chain.
Gara SK, Grumati P, Urciuolo A, Bonaldo P, Kobbe B, Koch M, Paulsson M, Wagener R. Gara SK, et al. Among authors: bonaldo p. J Biol Chem. 2008 Apr 18;283(16):10658-70. doi: 10.1074/jbc.M709540200. Epub 2008 Feb 13. J Biol Chem. 2008. PMID: 18276594 Free article.
181 results