Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation
Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Hůlková, Helena, Wen, Rong, Kmoch, Stanislav, Sessa, William C.
Published in Cell metabolism (02.09.2014)
Published in Cell metabolism (02.09.2014)
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A conserved C-terminal RXG motif in the NgBR subunit of cis-prenyltransferase is critical for prenyltransferase activity
Grabińska, Kariona A., Edani, Ban H., Park, Eon Joo, Kraehling, Jan R., Sessa, William C.
Published in The Journal of biological chemistry (20.10.2017)
Published in The Journal of biological chemistry (20.10.2017)
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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., Grabińska, 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
Published in American journal of human genetics (01.04.2021)
Published in American journal of human genetics (01.04.2021)
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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, Daniëlle G M, Ellis, Colin A, Amlie-Wolf, Louise, Accogli, Andrea, Atallah, Isis, Averdunk, Luisa, Barañano, 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, Noëlle, 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 J, Tartaglia, Marco, Hamdan, Fadi F, Grabińska, Kariona A, Leuzzi, Vincenzo
Published in Brain (London, England : 1878) (29.03.2022)
Published in Brain (London, England : 1878) (29.03.2022)
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Prenylation of Saccharomyces cerevisiae Chs4p Affects Chitin Synthase III Activity and Chitin Chain Length
Grabińska, Kariona A., Magnelli, Paula, Robbins, Phillips W.
Published in Eukaryotic Cell (01.02.2007)
Published in Eukaryotic Cell (01.02.2007)
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Structural elucidation of the cis-prenyltransferase NgBR/DHDDS complex reveals insights in regulation of protein glycosylation
Edani, Ban H., Grabińska, Kariona A., Zhang, Rong, Park, Eon Joo, Siciliano, Benjamin, Surmacz, Liliana, Ha, Ya, Sessa, William C.
Published in Proceedings of the National Academy of Sciences - PNAS (25.08.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (25.08.2020)
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Journal Article
NgBR is essential for endothelial cell glycosylation and vascular development
Park, Eon Joo, Grabińska, Kariona A, Guan, Ziqiang, Sessa, William C
Published in EMBO reports (01.02.2016)
Published in EMBO reports (01.02.2016)
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Dual regulation of SLC25A39 by AFG3L2 and iron controls mitochondrial glutathione homeostasis
Shi, Xiaojian, DeCiucis, Marisa, Grabinska, Kariona A., Kanyo, Jean, Liu, Adam, Lam, Tukiet T., Shen, Hongying
Published in Molecular cell (15.02.2024)
Published in Molecular cell (15.02.2024)
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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
Published in Proceedings of the National Academy of Sciences - PNAS (19.09.2023)
Published in Proceedings of the National Academy of Sciences - PNAS (19.09.2023)
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Journal Article
Ng BR is essential for endothelial cell glycosylation and vascular development
Park, Eon Joo, Grabińska, Kariona A, Guan, Ziqiang, Sessa, William C
Published in EMBO reports (01.02.2016)
Published in EMBO reports (01.02.2016)
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Journal Article
A conserved C-terminal R X G motif in the NgBR subunit of cis -prenyltransferase is critical for prenyltransferase activity
Grabińska, Kariona A, Edani, Ban H, Park, Eon Joo, Kraehling, Jan R, Sessa, William C
Published in The Journal of biological chemistry (20.10.2017)
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Published in The Journal of biological chemistry (20.10.2017)
Journal Article
Mutation of NgBR, a subunit of cis-prenyltransferase, causes a congenial disorder of glycosylation
Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Hůlková, Helena, Wen, Rong, Kmoch, Stanislav, Sessa, William C.
Published in Cell metabolism (24.07.2014)
Published in Cell metabolism (24.07.2014)
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