Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
脊髓小脑性共济失调 38:结构功能分析表明 ELOVL5 G230V 具有蛋白毒性、构象改变且是突变热点
期刊:Human Genetics
影响因子:3.8
doi:10.1007/s00439-023-02572-y
Enza Ferrero #, Eleonora Di Gregorio #, Marta Ferrero, Erika Ortolan, Young-Ah Moon, Antonella Di Campli, Lisa Pavinato, Cecilia Mancini, Debasmita Tripathy, Marta Manes, Eriola Hoxha, Chiara Costanzi, Elisa Pozzi, Matteo Rossi Sebastiano, Nico Mitro, Filippo Tempia, Donatella Caruso, Barbara Borron