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Published in EMBO molecular medicine (07.07.2020)
Published in EMBO molecular medicine (07.07.2020)
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The proteasome maturation protein POMP increases proteasome assembly and activity in psoriatic lesional skin
Zieba, Barbara A, Henry, Laurent, Lacroix, Matthieu, Jemaà, Mohamed, Lavabre-Bertrand, Thierry, Meunier, Laurent, Coux, Olivier, Stoebner, Pierre-Emmanuel
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Published in American journal of human genetics (07.06.2018)
Published in American journal of human genetics (07.06.2018)
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The Proteasome System in Health and Disease
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Published in Advances in experimental medicine and biology (01.01.2020)
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Published in Genetics in medicine (01.06.2024)
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The E3 Ubiquitin Ligases TRIM17 and TRIM41 Modulate α-Synuclein Expression by Regulating ZSCAN21
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Published in Cell reports (Cambridge) (27.11.2018)
Published in Cell reports (Cambridge) (27.11.2018)
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Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction
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Published in Clinical genetics (01.04.2020)
Published in Clinical genetics (01.04.2020)
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Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
Ariane Kroell Hermi, Ebstein, Frederic, Stoetzel, Corinne, Geoffroy, Veronique, Schaefer, Elise, Scheidecker, Sophie, Bar, Severine, Takamiya, Masanari, Kawakami, Koichi, Zieba, Barbara A, Studer, Fouzia, Pelletier, Valerie, 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, Kruger, Elke, Muller, Jean, Strahle, Uwe, Dollfus, Helene
Published in bioRxiv (17.11.2019)
Published in bioRxiv (17.11.2019)
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