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The K346T mutant of GnT-III bearing weak in vitro and potent intracellular activity
Hashimoto, Yuta, Kawade, Haruka, Bao, WanXue, Morii, Sayaka, Nakano, Miyako, Nagae, Masamichi, Murakami, Reiko, Tokoro, Yuko, Nakashima, Misaki, Cai, Zixuan, Isaji, Tomoya, Gu, Jianguo, Nakajima, Kazuki, Kizuka, Yasuhiko
Published in Biochimica et biophysica acta. General subjects (01.09.2024)
Published in Biochimica et biophysica acta. General subjects (01.09.2024)
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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
Lalani, Seema R., Liu, Pengfei, Rosenfeld, Jill A., Watkin, Levi B., Chiang, Theodore, Leduc, Magalie S., Zhu, Wenmiao, Ding, Yan, Pan, Shujuan, Vetrini, Francesco, Miyake, Christina Y., Shinawi, Marwan, Gambin, Tomasz, Eldomery, Mohammad K., Akdemir, Zeynep Hande Coban, Emrick, Lisa, Wilnai, Yael, Schelley, Susan, Koenig, Mary Kay, Memon, Nada, Farach, Laura S., Coe, Bradley P., Azamian, Mahshid, Hernandez, Patricia, Zapata, Gladys, Jhangiani, Shalini N., Muzny, Donna M., Lotze, Timothy, Clark, Gary, Wilfong, Angus, Northrup, Hope, Adesina, Adekunle, Bacino, Carlos A., Scaglia, Fernando, Bonnen, Penelope E., Crosson, Jane, Duis, Jessica, Maegawa, Gustavo H.B., Coman, David, Inwood, Anita, McGill, Jim, Boerwinkle, Eric, Graham, Brett, Beaudet, Art, Eng, Christine M., Hanchard, Neil A., Xia, Fan, Orange, Jordan S., Gibbs, Richard A., Lupski, James R., Yang, Yaping
Published in American journal of human genetics (04.02.2016)
Published in American journal of human genetics (04.02.2016)
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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Ferreira, Carlos R., Xia, Zhi-Jie, Clément, Aurélie, Parry, David A., Davids, Mariska, Taylan, Fulya, Sharma, Prashant, Turgeon, Coleman T., Blanco-Sánchez, Bernardo, Ng, Bobby G., Logan, Clare V., Wolfe, Lynne A., Solomon, Benjamin D., Cho, Megan T., Douglas, Ganka, Carvalho, Daniel R., Bratke, Heiko, Haug, Marte Gjøl, Phillips, Jennifer B., Wegner, Jeremy, Tiemeyer, Michael, Aoki, Kazuhiro, Nordgren, Ann, Hammarsjö, Anna, Duker, Angela L., Rohena, Luis, Hove, Hanne Buciek, Ek, Jakob, Adams, David, Tifft, Cynthia J., Onyekweli, Tito, Weixel, Tara, Macnamara, Ellen, Radtke, Kelly, Powis, Zöe, Earl, Dawn, Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Tham, Emma, Raymond, Kimiyo M., Phillips, John A., Tiller, George E., Wilson, William G., Hamid, Rizwan, Malicdan, May C.V., Nishimura, Gen, Grigelioniene, Giedre, Jackson, Andrew, Westerfield, Monte, Bober, Michael B., Gahl, William A., Freeze, Hudson H.
Published in American journal of human genetics (04.10.2018)
Published in American journal of human genetics (04.10.2018)
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Golgi inCOGnito: From vesicle tethering to human disease
D'Souza, Zinia, Taher, Farhana S., Lupashin, Vladimir V.
Published in Biochimica et biophysica acta. General subjects (01.11.2020)
Published in Biochimica et biophysica acta. General subjects (01.11.2020)
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Clinical presentation and proteomic signature of patients with TANGO2 mutations
Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L., Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra B. T., Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García‐Cazorla, Angels, Gross, Claudia, O'Callaghan, Maria, Santra, Saikat, Preece, Maryanne A., Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Thompson, Kyle, Navas, Placido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez‐Mallebrera, Cecilia, Taylor, Robert W., Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C., Roos, Andreas, Horvath, Rita
Published in Journal of inherited metabolic disease (01.03.2020)
Published in Journal of inherited metabolic disease (01.03.2020)
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Auto-inhibition of Drs2p, a Yeast Phospholipid Flippase, by Its Carboxyl-terminal Tail
Zhou, Xiaoming, Sebastian, Tessy T., Graham, Todd R.
Published in The Journal of biological chemistry (01.11.2013)
Published in The Journal of biological chemistry (01.11.2013)
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Evidence for splice transcript variants of TMEM165, a gene involved in CDG
Krzewinski-Recchi, Marie-Ange, Potelle, Sven, Mir, Anne-Marie, Vicogne, Dorothée, Dulary, Eudoxie, Duvet, Sandrine, Morelle, Willy, de Bettignies, Geoffroy, Foulquier, François
Published in Biochimica et biophysica acta (01.04.2017)
Published in Biochimica et biophysica acta (01.04.2017)
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Manganese ion concentration affects production of human core 3 O-glycan in Saccharomyces cerevisiae
Saito, Fumie, Sakamoto, Izumi, Kanatani, Akio, Chiba, Yasunori
Published in Biochimica et biophysica acta (01.09.2016)
Published in Biochimica et biophysica acta (01.09.2016)
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Chlorella viruses encode most, if not all, of the machinery to glycosylate their glycoproteins independent of the endoplasmic reticulum and Golgi
Van Etten, James L., Gurnon, James R., Yanai-Balser, Giane M., Dunigan, David D., Graves, Michael V.
Published in Biochimica et biophysica acta (01.02.2010)
Published in Biochimica et biophysica acta (01.02.2010)
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A novel Pro126His beta propeller mutation in integrin alphaIIb causes Glanzmann thrombasthenia by impairing progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi
Shen, Wei-Zhang, Ding, Qiu-Lan, Jin, Pei-Pei, Wang, Xue-Feng, Jiang, Yu-Zhen, Li, Shu-Mei, Wang, Hong-Li
Published in Blood cells, molecules, & diseases (01.01.2009)
Published in Blood cells, molecules, & diseases (01.01.2009)
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