The WRB Subunit of the Get3 Receptor is Required for the Correct Integration of its Partner CAML into the ER

Por Carvalho, Hugo J. F., Del Bondio, Andrea, Maltecca, Francesca, Colombo, Sara F., Borgese, Nica
Publicado no Sci Rep (2019)

U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene

Por Sferruzza, Giacomo, Del Bondio, Andrea, Citterio, Andrea, Vezzulli, Paolo, Guerrieri, Simone, Radaelli, Marta, Martinelli Boneschi, Filippo, Filippi, Massimo, Maltecca, Francesca, Bassi, Maria Teresa, Scarlato, Marina
Publicado no Neurol Genet (2021)

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

Por Tulli, Susanna, Del Bondio, Andrea, Baderna, Valentina, Mazza, Davide, Codazzi, Franca, Pierson, Tyler Mark, Ambrosi, Alessandro, Nolte, Dagmar, Goizet, Cyril, Toro, Camilo, Baets, Jonathan, Deconinck, Tine, DeJonghe, Peter, Mandich, Paola, Casari, Giorgio, Maltecca, Francesca
Publicado no J Med Genet (2019)