GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy.
在眼咽远端肌病中,新的开放阅读框内的 GGC 重复扩增被翻译成有毒的聚甘氨酸蛋白。
期刊:Nature Genetics
影响因子:29
doi:10.1038/s41588-026-02507-z
Boivin Manon, Yu Jiaxi, Eura Nobuyuki, Schmitt Léa, Pietri David, Grandgirard Erwan, Goetz-Reiner Patrice, Plassard Damien, Nahy Chadia, Maglott Anne, Morlet Bastien, Gao Chao, Lefebvre Elise, Philipps Muriel, Eberling Pascal, Pichot Angélique, Rossolillo Paola, Thibault Christelle, Oulad-Abdelghani Mustapha, Nishino Ichizo, Yang Kang, Wang Ning, Wang Zhaoxia, Deng Jianwen, Charlet-Berguerand Nicolas