Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Abstract The ubiquitin–proteasome system degrades ubiquitin‐modified proteins to maintain protein homeostasis and to control signalling. Whole‐genome sequencing of patients with severe deafness and early‐onset cataracts as part of a neurological, sensorial and cutaneous novel syndrome identified a u...

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Principais autores:	Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Springer Nature 2020-06-01
coleção:	EMBO Molecular Medicine
Assuntos:	cataract deafness neurosensory disease proteasome PSMC3
Acesso em linha:	https://doi.org/10.15252/emmm.201911861
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