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TNFα increases the degradation of pyruvate dehydrogenase kinase 4 by the Lon protease to support proinflammatory genes Boutagy, Nabil E.; Fowler, Joseph W.; Grabinska, Kariona A.; Cardone, Rebecca; Sun, Qiushi; Vazquez, Kyla R.; Whalen, Michael B.; Zhu, Xiaolong; Chakraborty, Raja; Martin, Kathleen A.; Simons, Michael; Romanoski, Casey E.; Kibbey, Richard G.; Sessa, William C. Share Save
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus Galosi, Serena; Edani, Ban H.; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A.; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Danielle G. M.; Ellis, Colin A.; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Baranano, Kristin W.; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noelle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E.; Venkateswaran, Sunita; Wheeler, Patricia G.; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C.; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F.; Grabinska, Kariona A.; Leuzzi, Vincenzo Share Save
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes Courage, Carolina; Oliver, Karen L.; Park, Eon Joo; Cameron, Jillian M.; Grabinska, Kariona A.; Muona, Mikko; Canafoglia, Laura; Gambardella, Antonio; Said, Edith; Afawi, Zaid; Baykan, Betul; Brandt, Christian; di Bonaventura, Carlo; Chew, Hui Bein; Criscuolo, Chiara; Dibbens, Leanne M.; Castellotti, Barbara; Riguzzi, Patrizia; Labate, Angelo; Filla, Alessandro; Giallonardo, Anna T.; Berecki, Geza; Jackson, Christopher B.; Joensuu, Tarja; Damiano, John A.; Kivity, Sara; Korczyn, Amos; Palotie, Aarno; Striano, Pasquale; Uccellini, Davide; Giuliano, Loretta; Andermann, Eva; Scheffer, Ingrid E.; Michelucci, Roberto; Bahlo, Melanie; Franceschetti, Silvana; Sessa, William C.; Berkovic, Samuel F.; Lehesjoki, Anna-Elina Share Save
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Endothelia cell-glucocorticoid receptor interactions and regulation of Wnt signaling Zhou, Han; Mehta, Sameet; Srivastava, Swayam Prakash; Grabinska, Kariona; Zhang, Xinbo; Wong, Chris; Hedayat, Ahmad; Perrotta, Paola; Fernandez-Hernando, Carlos; Sessa, William C.; Goodwin, Julie E. Share Save
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