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Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
Kröll‐Hermi, Ariane, Ebstein, Frédéric, Stoetzel, Corinne, Geoffroy, Véronique, Schaefer, Elise, Scheidecker, Sophie, Bär, Séverine, Takamiya, Masanari, Kawakami, Koichi, Zieba, Barbara A, Studer, Fouzia, Pelletier, Valerie, 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
Published in EMBO molecular medicine (07.07.2020)
Published in EMBO molecular medicine (07.07.2020)
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Journal Article
Immunoproteasome function maintains oncogenic gene expression in KMT2A-complex driven leukemia
Tubío-Santamaría, Nuria, Jayavelu, Ashok Kumar, Schnoeder, Tina M., Eifert, Theresa, Hsu, Chen-Jen, Perner, Florian, Zhang, Qirui, Wenge, Daniela V., Hansen, Fynn M., Kirkpatrick, Joanna M., Jyotsana, Nidhi, Lane, Steven W., von Eyss, Björn, Deshpande, Aniruddha J., Kühn, Michael W. M., Schwaller, Juerg, Cammann, Clemens, Seifert, Ulrike, Ebstein, Frédéric, Krüger, Elke, Hochhaus, Andreas, Heuser, Michael, Ori, Alessandro, Mann, Matthias, Armstrong, Scott A., Heidel, Florian H.
Published in Molecular cancer (04.12.2023)
Published in Molecular cancer (04.12.2023)
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Journal Article
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)
Papendorf, Jonas Johannes, Ebstein, Frédéric, Alehashemi, Sara, Piotto, Daniela Gerent Petry, Kozlova, Anna, Terreri, Maria Teresa, Shcherbina, Anna, Rastegar, Andre, Rodrigues, Marta, Pereira, Renan, Park, Sophia, Lin, Bin, Uss, Kat, Möller, Sophie, da Silva Pina, Ana Flávia, Sztajnbok, Flavio, Torreggiani, Sofia, Niemela, Julie, Stoddard, Jennifer, Rosenzweig, Sergio D., Oler, Andrew J., McNinch, Colton, de Guzman, Marietta M., Fonseca, Adriana, Micheloni, Nicole, Fraga, Melissa Mariti, Perazzio, Sandro Félix, Goldbach-Mansky, Raphaela, de Jesus, Adriana A., Krüger, Elke
Published in Frontiers in immunology (04.08.2023)
Published in Frontiers in immunology (04.08.2023)
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Journal Article
The Ubiquitin–Proteasome System in Immune Cells
Çetin, Gonca, Klafack, Sandro, Studencka-Turski, Maja, Krüger, Elke, Ebstein, Frédéric
Published in Biomolecules (Basel, Switzerland) (05.01.2021)
Published in Biomolecules (Basel, Switzerland) (05.01.2021)
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Journal Article
Role of Proteasomes in Inflammation
Goetzke, Carl Christoph, Ebstein, Frédéric, Kallinich, Tilmann
Published in Journal of clinical medicine (20.04.2021)
Published in Journal of clinical medicine (20.04.2021)
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Journal Article
P196: GestaltMatcher Database: A FAIR database for medical imaging data of rare diseases
Lesmann, Hellen, Moosa, Shahida, Pantel, Tori, Rosnev, Stanislav, Hustinx, Alexander, Javanmardi, Behnam, Knaus, Alexej, Kamphans, Tom, Meiswinkel, Wolfgang, Li, Jing-Mei, Hagen, Merle ten, Caro, Pilar, Velmans, Clara, Höller, Matthias, Abdelrazek, Ibrahim, Elmakkawy, Gehad, Alaadin, Khoushoua, Coetzer, Kimberly Christine, Ebstein, Frédéric, Küry, Sebastian, Abdalla, Ebtesam, Elbracht, Miriam, Knopp, Cordula, Arlt, Annabelle, Graziano, Claudio, Artem, Borovikov, Uwineza, Annette, Marbach, Felix, Netzer, Christian, Jamra, Rami Abou, Nöthen, Markus, Lyon, Gholson, Krawitz, Peter, Hsieh, Tzung-Chien
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis
Ebstein, Frédéric, Küry, Sébastien, Papendorf, Jonas Johannes, Krüger, Elke
Published in Frontiers in molecular neuroscience (08.09.2021)
Published in Frontiers in molecular neuroscience (08.09.2021)
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Journal Article
Superior antigen cross-presentation and XCR1 expression define human CD11c+CD141+ cells as homologues of mouse CD8+ dendritic cells
Bachem, Annabell, Güttler, Steffen, Hartung, Evelyn, Ebstein, Frédéric, Schaefer, Michael, Tannert, Astrid, Salama, Abdulgabar, Movassaghi, Kamran, Opitz, Corinna, Mages, Hans W., Henn, Volker, Kloetzel, Peter-Michael, Gurka, Stephanie, Kroczek, Richard A.
Published in The Journal of experimental medicine (07.06.2010)
Published in The Journal of experimental medicine (07.06.2010)
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Journal Article
The Proteasome Activator PA200/PSME4: An Emerging New Player in Health and Disease
Yazgili, Ayse Seda, Ebstein, Frédéric, Meiners, Silke
Published in Biomolecules (Basel, Switzerland) (01.08.2022)
Published in Biomolecules (Basel, Switzerland) (01.08.2022)
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Journal Article
Emerging roles of immunoproteasomes beyond MHC class I antigen processing
Ebstein, Frédéric, Kloetzel, Peter-Michael, Krüger, Elke, Seifert, Ulrike
Published in Cellular and molecular life sciences : CMLS (01.08.2012)
Published in Cellular and molecular life sciences : CMLS (01.08.2012)
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Journal Article
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature
Ansar, Muhammad, Ebstein, Frédéric, Özkoç, Hayriye, Paracha, Sohail A, Iwaszkiewicz, Justyna, Gesemann, Matthias, Zoete, Vincent, Ranza, Emmanuelle, Santoni, Federico A, Sarwar, Muhammad T, Ahmed, Jawad, Krüger, Elke, Bachmann-Gagescu, Ruxandra, Antonarakis, Stylianos E
Published in Human molecular genetics (08.05.2020)
Published in Human molecular genetics (08.05.2020)
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Journal Article
Immunoproteasomes control activation of innate immune signaling and microglial function
Çetin, Gonca, Studencka-Turski, Maja, Venz, Simone, Schormann, Eileen, Junker, Heike, Hammer, Elke, Völker, Uwe, Ebstein, Frédéric, Krüger, Elke
Published in Frontiers in immunology (06.10.2022)
Published in Frontiers in immunology (06.10.2022)
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Journal Article
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives
Cuinat, Silvestre, Bézieau, Stéphane, Deb, Wallid, Mercier, Sandra, Vignard, Virginie, Isidor, Bertrand, Küry, Sébastien, Ebstein, Frédéric
Published in Genes & diseases (01.11.2024)
Published in Genes & diseases (01.11.2024)
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Journal Article
Immunogenic cell death triggered by impaired deubiquitination in multiple myeloma relies on dysregulated type I interferon signaling
Waad Sadiq, Zeinab, Brioli, Annamaria, Al-Abdulla, Ruba, Çetin, Gonca, Schütt, Jacqueline, Murua Escobar, Hugo, Krüger, Elke, Ebstein, Frédéric
Published in Frontiers in immunology (02.03.2023)
Published in Frontiers in immunology (02.03.2023)
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Journal Article
Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α
Ziegler, Alban, Ebstein, Frédéric, Shamseldin, Hanan, Prouteau, Clément, Krüger, Elke, Binamer, Yousef M, Bonneau, Dominique, Alkuraya, Fowzan S, Martin, Ludovic
Published in British journal of dermatology (1951) (07.07.2023)
Published in British journal of dermatology (1951) (07.07.2023)
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Journal Article
Major Histocompatibility Complex (MHC) Class I Processing of the NY-ESO-1 Antigen Is Regulated by Rpn10 and Rpn13 Proteins and Immunoproteasomes following Non-lysine Ubiquitination
Golnik, Richard, Lehmann, Andrea, Kloetzel, Peter-Michael, Ebstein, Frédéric
Published in The Journal of biological chemistry (15.04.2016)
Published in The Journal of biological chemistry (15.04.2016)
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Journal Article