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SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Motta M, Fasano G, Gredy S, Brinkmann J, Bonnard AA, Simsek-Kiper PO, Gulec EY, Essaddam L, Utine GE, Guarnetti Prandi I, Venditti M, Pantaleoni F, Radio FC, Ciolfi A, Petrini S, Consoli F, Vignal C, Hepbasli D, Ullrich M, de Boer E, Vissers LELM, Gritli S, Rossi C, De Luca A, Ben Becher S, Gelb BD, Dallapiccola B, Lauri A, Chillemi G, Schuh K, Cavé H, Zenker M, Tartaglia M. Motta M, et al. Among authors: guarnetti prandi i. Am J Hum Genet. 2021 Nov 4;108(11):2112-2129. doi: 10.1016/j.ajhg.2021.09.007. Epub 2021 Oct 8. Am J Hum Genet. 2021. PMID: 34626534 Free PMC article.
The Spike Mutants Website: A Worldwide Used Resource against SARS-CoV-2.
Romeo I, Prandi IG, Giombini E, Gruber CEM, Pietrucci D, Borocci S, Abid N, Fava A, Beccari AR, Chillemi G, Talarico C. Romeo I, et al. Among authors: prandi ig. Int J Mol Sci. 2022 Oct 28;23(21):13082. doi: 10.3390/ijms232113082. Int J Mol Sci. 2022. PMID: 36361870 Free PMC article.
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Fasano G, Muto V, Radio FC, Venditti M, Mosaddeghzadeh N, Coppola S, Paradisi G, Zara E, Bazgir F, Ziegler A, Chillemi G, Bertuccini L, Tinari A, Vetro A, Pantaleoni F, Pizzi S, Conti LA, Petrini S, Bruselles A, Prandi IG, Mancini C, Chandramouli B, Barth M, Bris C, Milani D, Selicorni A, Macchiaiolo M, Gonfiantini MV, Bartuli A, Mariani R, Curry CJ, Guerrini R, Slavotinek A, Iascone M, Dallapiccola B, Ahmadian MR, Lauri A, Tartaglia M. Fasano G, et al. Among authors: prandi ig. Nat Commun. 2022 Nov 11;13(1):6841. doi: 10.1038/s41467-022-34354-x. Nat Commun. 2022. PMID: 36369169 Free PMC article.