Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
- Resource Type
- Journal
- Authors
- Kroll-Hermi, Ariane; Ebstein, Frederic; Stoetzel, Corinne; Geoffroy, Veronique; Schaefer, Elise; Scheidecker, Sophie; Bar, Severine; Takamiya, Masanari; Kawakami, Koichi; Zieba, Barbara Agnieszka; Studer, Fouzia; Pelletier, Valerie; Speeg-Schatz, Claude; Laugel, Vincent; Lipsker, Dan; Sandron, Florian; McGinn, Steven; Boland, Anne; Deleuze, Jean-Francois; Kuhn, Lauriane; Chicher, Johana; Hammann, Philippe; Friant, Sylvie; Etard, Christelle; Krueger, Elke; Muller, Jean; Straehle, Uwe; Dollfus, Helene
- Source
- EMBO MOLECULAR MEDICINE; JUN 5 2020, pe11861 20p.
- Subject
- Language
- English
- ISSN
- 17574684