SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA
SEPN1 相关肌病依赖于氧化还原酶 ERO1A,可通过化学伴侣 TUDCA 治疗
期刊:Cell Reports Medicine
影响因子:11.7
doi:10.1016/j.xcrm.2024.101439
Serena Germani, Andrew Tri Van Ho, Alessandro Cherubini, Ersilia Varone, Alexander Chernorudskiy, Giorgia Maria Renna, Stefano Fumagalli, Marco Gobbi, Jacopo Lucchetti, Marco Bolis, Luca Guarrera, Ilaria Craparotta, Giorgia Rastelli, Giorgia Piccoli, Cosimo de Napoli, Leonardo Nogara, Elena Poggio,