Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Élise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A. Zieba, Fouzia Studer, Valérie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, , Hélène Dollfus
The paper identifies a PSMC3 variant causing a neurosensory syndrome with deafness and cataracts due to proteotoxic stress and impaired proteasome function.
EMBO Molecular Medicine · Jun 5, 2020Peer-reviewedGenetics