A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function
一种与马里内斯科-舍格伦综合征相关的新型SIL1变异体(p.E342K)会损害蛋白质稳定性和功能。
期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms262311310
Ruggieri, Anna Giulia; Marinakis, Nikolaos M; Amodei, Laura; Potenza, Francesca; Kampouraki, Afrodite; Tilemis, Faidon-Nikolaos; Pietrangelo, Laura; Viele, Marianna; Di Marco, Federica; Del Boccio, Piero; Di Cintio, Federica; Selenti, Nikoletta; Valari, Manthoula; Federici, Luca; Miele, Adriana Erica; Sallese, Michele; Makrythanasis, Periklis