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Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome 改变的热休克蛋白-非肌球蛋白II相互作用驱动UNC45A c.710T>C变异在骨-耳-肝-肠综合征中的致病性 Waich, Stephanie; Kreidl, Karin; Vodopiutz, Julia; Demir, Arzu Meltem; Pollio, Adam R.; Dostal, Vojtech; Pfaller, Kristian; Parlato, Marianna; Cerf-Bensussan, Nadine; Adam, Ruediger; Vogel, Georg F.; Uhlig, Holm H.; Ruemmele, Frank M.; Mueller, Thomas; Hess, Michael W.; Janecke, Andreas R.; Huber, Lukas A.; Valovka, Taras 分享 收藏
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Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes Heimdoerfer, David; Vorleuter, Alexander; Eschlboeck, Alexander; Spathopoulou, Angeliki; Suarez-Cubero, Marta; Farhan, Hesso; Reiterer, Veronika; Spanjaard, Melanie; Schaaf, Christian P.; Huber, Lukas A.; Kremser, Leopold; Sarg, Bettina; Edenhofer, Frank; Geley, Stephan; de Araujo, Mariana E. G.; Huettenhofer, Alexander 分享 收藏
Omicron subvariants illustrate reduced respiratory tissue penetration, cell damage and inflammatory responses in human airway epithelia Zaderer, Viktoria; Abd El Halim, Hussam; Wyremblewsky, Anna-Lena; Lupoli, Gaia; Daechert, Christopher; Muenchhoff, Maximilian; Graf, Alexander; Blum, Helmut; Lass-Floerl, Cornelia; Keppler, Oliver T.; Huber, Lukas A.; Posch, Wilfried; Wilflingseder, Doris 分享 收藏
The negative adipogenesis regulator Dlk1 is transcriptionally regulated by Ifrd1 (TIS7) and translationally by its orthologue Ifrd2 (SKMc15) Vietor, Ilja; Cikes, Domagoj; Piironen, Kati; Vasakou, Theodora; Heimdoerfer, David; Gstir, Ronald; Erlacher, Matthias David; Tancevski, Ivan; Eller, Philipp; Demetz, Egon; Hess, Michael W.; Kuhn, Volker; Degenhart, Gerald; Rozman, Jan; Klingenspor, Martin; Hrabe de Angelis, Martin; Valovka, Taras; Huber, Lukas A. 分享 收藏
Toll-Like Receptor 3 Mediates Aortic Stenosis Through a Conserved Mechanism of Calcification Gollmann-Tepekoeylue, Can; Graber, Michael; Hirsch, Jakob; Mair, Sophia; Naschberger, Andreas; Poelzl, Leo; Naegele, Felix; Kirchmair, Elke; Degenhart, Gerald; Demetz, Egon; Hilbe, Richard; Chen, Hao-Yu; Engert, James C.; Boehm, Anna; Franz, Nadja; Lobenwein, Daniela; Lener, Daniela; Fuchs, Christiane; Weihs, Anna; Toechterle, Sonja; Vogel, Georg F.; Schweiger, Victor; Eder, Jonas; Pietschmann, Peter; Seifert, Markus; Kronenberg, Florian; Coassin, Stefan; Blumer, Michael; Hackl, Hubert; Meyer, Dirk; Feuchtner, Gudrun; Kirchmair, Rudolf; Troppmair, Jakob; Krane, Markus; Weiss, Guenther; Tsimikas, Sotirios; Thanassoulis, George; Grimm, Michael; Rupp, Bernhard; Huber, Lukas A.; Zhang, Shen-Ying; Casanova, Jean-Laurent; Tancevski, Ivan; Holfeld, Johannes 分享 收藏
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome RagD自动激活突变损害肾小管病和心肌病综合征中的MiT/TFE活性 Sambri, Irene; Ferniani, Marco; Campostrini, Giulia; Testa, Marialuisa; Meraviglia, Viviana; de Araujo, Mariana E. G.; Dokladal, Ladislav; Vilardo, Claudia; Monfregola, Jlenia; Zampelli, Nicolina; Blanco, Francesca Del Vecchio; Torella, Annalaura; Ruosi, Carolina; Fecarotta, Simona; Parenti, Giancarlo; Staiano, Leopoldo; Bellin, Milena; Huber, Lukas A.; De Virgilio, Claudio; Trepiccione, Francesco; Nigro, Vincenzo; Ballabio, Andrea 分享 收藏
The lysosomal LAMTOR / Ragulator complex is essential for nutrient homeostasis in brown adipose tissue Liebscher, Gudrun; Vujic, Nemanja; Schreiber, Renate; Heine, Markus; Krebiehl, Caroline; Duta-Mare, Madalina; Lamberti, Giorgia; de Smet, Cedric H.; Hess, Michael W.; Eichmann, Thomas O.; Hoelzl, Sarah; Scheja, Ludger; Heeren, Joerg; Kratky, Dagmar; Huber, Lukas A. 分享 收藏
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UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking Duclaux-Loras, Remi; Lebreton, Corinne; Berthelet, Jeremy; Charbit-Henrion, Fabienne; Nicolle, Ophelie; de Courtils, Celine Revenu; Waich, Stephanie; Valovka, Taras; Khiat, Anis; Rabant, Marion; Racine, Caroline; Guerrera, Ida Chiara; Baptista, Julia; Mahe, Maxime M.; Hess, Michael W.; Durel, Beatrice; Lefort, Nathalie; Banal, Celine; Parisot, Melanie; Talbotec, Cecile; Lacaille, Florence; Ecochard-Dugelay, Emmanuelle; Demir, Arzu Meltem; Vogel, Georg F.; Faivre, Laurence; Rodrigues, Astor; Fowler, Darren; Janecke, Andreas R.; Mueller, Thomas; Huber, Lukas A.; Rodrigues-Lima, Fernando; Ruemmele, Frank M.; Uhlig, Holm H.; Bene, Filippo Del; Michaux, Gregoire; Cerf-Bensussan, Nadine; Parlato, Marianna 分享 收藏
Anti-Inflammatory Extract from Soil Algae Chromochloris zofingiensis Targeting TNFR/NF-κB Signaling at Different Levels Leitner, Peter D.; Jakschitz, Thomas; Gstir, Ronald; Stuppner, Stefan; Perkams, Sebastian; Kruus, Maren; Trockenbacher, Alexander; Griesbeck, Christoph; Bonn, Gunther K.; Huber, Lukas A.; Valovka, Taras 分享 收藏
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Complement Potentiates Immune Sensing of HIV-1 and Early Type I Interferon Responses Posch, Wilfried; Bermejo-Jambrina, Marta; Steger, Marion; Witting, Christina; Diem, Gabriel; Hoertnagl, Paul; Hackl, Hubert; Lass-Floerl, Cornelia; Huber, Lukas A.; Geijtenbeek, Teunis B. H.; Wilflingseder, Doris 分享 收藏
The SZT2 Interactome Unravels New Functions of the KICSTOR Complex Cattelani, Cecilia; Lesiak, Dominik; Liebscher, Gudrun; Singer, Isabel I.; Stasyk, Taras; Wallnoefer, Moritz H.; Heberle, Alexander M.; Corti, Corrado; Hess, Michael W.; Pfaller, Kristian; Kwiatkowski, Marcel; Pramstaller, Peter P.; Hicks, Andrew A.; Thedieck, Kathrin; Muller, Thomas; Huber, Lukas A.; de Araujo, Mariana Eca Guimaraes 分享 收藏
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C5aR inhibition of nonimmune cells suppresses inflammation and maintains epithelial integrity in SARS-CoV-2-infected primary human airway epithelia C5aR抑制非免疫细胞可抑制炎症并维持SARS-CoV-2-infected原发性人类气道上皮细胞的上皮完整性 Posch, Wilfried; Vosper, Jonathan; Noureen, Asma; Zaderer, Viktoria; Witting, Christina; Bertacchi, Giulia; Gstir, Ronald; Filipek, Przemyslaw A.; Bonn, Guenther K.; Huber, Lukas A.; Bellmann-Weiler, Rosa; Lass-Floerl, Cornelia; Wilflingseder, Doris 分享 收藏
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