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

Autor: Kröll-Hermi, Ariane, Ebstein, Frédéric, Stoetzel, Corinne, Geoffroy, Véronique, Schaefer, Elise, Scheidecker, Sophie, Bär, Séverine, Takamiya, Masanari, Kawakami, Koichi, Zieba, Barbara, Studer, Fouzia, Pelletier, Valérie, Eyermann, Carine, Speeg‐schatz, Claude, Laugel, Vincent, Lipsker, Dan, Sandron, Florian, Mcginn, Steven, Boland, Anne, Deleuze, Jean‐françois, Kuhn, Lauriane, Chicher, Johana, Hammann, Philippe, Friant, Sylvie, Etard, Christelle, Krüger, Elke, Muller, Jean, Strähle, Uwe, Dollfus, Hélène

Publikováno v: EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 12, Iss 7, Pp n/a-n/a (2020)
EMBO Molecular Medicine, 2020, 12 (7), ⟨10.15252/emmm.201911861⟩
EMBO Molecular Medicine, Wiley Open Access, 2020, 12 (7), ⟨10.15252/emmm.201911861⟩

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, sens

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8fac6b75bc18e3b3050daecbe8edfef2
http://europepmc.org/articles/PMC7338805

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