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PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism.
Ren AA, Snellings DA, Su YS, Hong CC, Castro M, Tang AT, Detter MR, Hobson N, Girard R, Romanos S, Lightle R, Moore T, Shenkar R, Benavides C, Beaman MM, Müller-Fielitz H, Chen M, Mericko P, Yang J, Sung DC, Lawton MT, Ruppert JM, Schwaninger M, Körbelin J, Potente M, Awad IA, Marchuk DA, Kahn ML. Ren AA, et al. Nature. 2021 Jun;594(7862):271-276. doi: 10.1038/s41586-021-03562-8. Epub 2021 Apr 28. Nature. 2021. PMID: 33910229 Free PMC article.
Cerebral cavernous malformations are driven by ADAMTS5 proteolysis of versican.
Hong CC, Tang AT, Detter MR, Choi JP, Wang R, Yang X, Guerrero AA, Wittig CF, Hobson N, Girard R, Lightle R, Moore T, Shenkar R, Polster SP, Goddard LM, Ren AA, Leu NA, Sterling S, Yang J, Li L, Chen M, Mericko-Ishizuka P, Dow LE, Watanabe H, Schwaninger M, Min W, Marchuk DA, Zheng X, Awad IA, Kahn ML. Hong CC, et al. J Exp Med. 2020 Oct 5;217(10):e20200140. doi: 10.1084/jem.20200140. J Exp Med. 2020. PMID: 32648916 Free PMC article.