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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
Lesage, Suzanne, Deramecourt, Vincent, Jacoupy, Maxime, Hassoun, Sidi Mohamed, Pujol, Claire, Maurage, Claude-Alain, Sahbatou, Mourad, Liebau, Stefan, Bilgic, Basar, Emre, Murat, Erginel-Unaltuna, Nihan, Guven, Gamze, Tison, François, Tranchant, Christine, Corvol, Jean-Christophe, Krack, Paul, Hernandez, Dena G., Gibbs, J. Raphael, Hardy, John, Wood, Nicholas W., Durr, Alexandra, Deleuze, Jean-François, Tazir, Meriem, Destée, Alain, Lohmann, Ebba, Corti, Olga, Brice, Alexis, Lesage, Suzanne, Tison, François, Vidailhet, Marie, Corvol, Jean-Christophe, Agid, Yves, Anheim, Mathieu, Bonnet, Anne-Marie, Borg, Michel, Broussolle, Emmanuel, Durif, Franck, Krack, Paul, Klebe, Stephan, Lohmann, Ebba, Vérin, Marc, Viallet, François, Brice, Alexis, Majounie, Elisa, Corvol, Jean Christophe, Ben-Shlomo, Yoav, Berg, Daniela, Bhatia, Kailash, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M., Brockmann, Kathrin, Burn, David J., Chen, Honglei, Clarke, Carl E., Cookson, Mark R., Counsell, Carl, van Dijk, Karin D., Dong, Jing, Escott-Price, Valentina, Evans, Jonathan R., Gray, Emma, Guerreiro, Rita, van Hilten, Jacobus J., Hollenbeck, Albert, Holmans, Peter, Hu, Michèle, Hudson, Gavin, Hunt, Sarah E., Kilarski, Laura L., Jansen, Iris E., Langford, Cordelia, Lees, Andrew, Lorenz, Delia, Lubbe, Steven, Lungu, Codrin, Martinez, María, Mätzler, Walter, McNeill, Alisdair, Moorby, Catriona, O’Sullivan, Sean S., Pearson, Justin, Ravina, Bernard, Rivadeneira, Fernando, Ryten, Mina, Schapira, Anthony, Sharma, Manu, Sheerin, Una-Marie, Sidransky, Ellen, Spencer, Chris C.A., Stefánsson, Kári, Strange, Amy, Talbot, Kevin, Trabzuni, Daniah, Uitterlinden, André G., van de Warrenburg, Bart, Williams-Gray, Caroline H., Winder-Rhodes, Sophie, Hardy, John, Wood, Nicholas W.
Published in American journal of human genetics (03.03.2016)
Published in American journal of human genetics (03.03.2016)
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A high-avidity biosensor reveals plasma membrane PI(3,4)P 2 is predominantly a class I PI3K signaling product
Goulden, Brady D, Pacheco, Jonathan, Dull, Allyson, Zewe, James P, Deiters, Alexander, Hammond, Gerald R V
Published in The Journal of cell biology (04.03.2019)
Published in The Journal of cell biology (04.03.2019)
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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, Chelly, Jamel
Published in Nature genetics (01.06.2013)
Published in Nature genetics (01.06.2013)
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Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects
Walsh, Meghan T., Di Leo, Enza, Okur, Ilyas, Tarugi, Patrizia, Hussain, M. Mahmood
Published in Biochimica et biophysica acta (01.11.2016)
Published in Biochimica et biophysica acta (01.11.2016)
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In vivo and in vitro degradation of peptide YY3-36 to inactive peptide YY3-34 in humans
Toräng, Signe, Bojsen-Møller, Kirstine Nyvold, Svane, Maria Saur, Hartmann, Bolette, Rosenkilde, Mette Marie, Madsbad, Sten, Holst, Jens Juul
Published in American journal of physiology. Regulatory, integrative and comparative physiology (01.05.2016)
Published in American journal of physiology. Regulatory, integrative and comparative physiology (01.05.2016)
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Tumour-secreted miR-9 promotes endothelial cell migration and angiogenesis by activating the JAK-STAT pathway
Zhuang, Guanglei, Wu, Xiumin, Jiang, Zhaoshi, Kasman, Ian, Yao, Jenny, Guan, Yinghui, Oeh, Jason, Modrusan, Zora, Bais, Carlos, Sampath, Deepak, Ferrara, Napoleone
Published in The EMBO journal (29.08.2012)
Published in The EMBO journal (29.08.2012)
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Role of C-mannosylation in the secretion of mindin
Inai, Yoko, Ueda, Kana, Matsui, In-Sook Lee, Tajiri, Michiko, Minakata, Shiho, Wada, Yoshinao, Ihara, Yoshito
Published in Biochimica et biophysica acta. General subjects (01.08.2020)
Published in Biochimica et biophysica acta. General subjects (01.08.2020)
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Adiponutrin Functions as a Nutritionally Regulated Lysophosphatidic Acid Acyltransferase
Kumari, Manju, Schoiswohl, Gabriele, Chitraju, Chandramohan, Paar, Margret, Cornaciu, Irina, Rangrez, Ashraf Y., Wongsiriroj, Nuttaporn, Nagy, Harald M., Ivanova, Pavlina T., Scott, Sarah A., Knittelfelder, Oskar, Rechberger, Gerald N., Birner-Gruenberger, Ruth, Eder, Sandra, Brown, H. Alex, Haemmerle, Guenter, Oberer, Monika, Lass, Achim, Kershaw, Erin E., Zimmermann, Robert, Zechner, Rudolf
Published in Cell metabolism (02.05.2012)
Published in Cell metabolism (02.05.2012)
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LRRTM2 Functions as a Neurexin Ligand in Promoting Excitatory Synapse Formation
Ko, Jaewon, Fuccillo, Marc V., Malenka, Robert C., Südhof, Thomas C.
Published in Neuron (Cambridge, Mass.) (24.12.2009)
Published in Neuron (Cambridge, Mass.) (24.12.2009)
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Transcriptional regulator PRDM12 is essential for human pain perception
Chen, Ya-Chun, Auer-Grumbach, Michaela, Matsukawa, Shinya, Zitzelsberger, Manuela, Themistocleous, Andreas C, Strom, Tim M, Samara, Chrysanthi, Moore, Adrian W, Cho, Lily Ting-Yin, Young, Gareth T, Weiss, Caecilia, Schabhüttl, Maria, Stucka, Rolf, Schmid, Annina B, Parman, Yesim, Graul-Neumann, Luitgard, Heinritz, Wolfram, Passarge, Eberhard, Watson, Rosemarie M, Hertz, Jens Michael, Moog, Ute, Baumgartner, Manuela, Valente, Enza Maria, Pereira, Diego, Restrepo, Carlos M, Katona, Istvan, Dusl, Marina, Stendel, Claudia, Wieland, Thomas, Stafford, Fay, Reimann, Frank, von Au, Katja, Finke, Christian, Willems, Patrick J, Nahorski, Michael S, Shaikh, Samiha S, Carvalho, Ofélia P, Nicholas, Adeline K, Karbani, Gulshan, McAleer, Maeve A, Cilio, Maria Roberta, McHugh, John C, Murphy, Sinead M, Irvine, Alan D, Jensen, Uffe Birk, Windhager, Reinhard, Weis, Joachim, Bergmann, Carsten, Rautenstrauss, Bernd, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Kropatsch, Regina, Kurth, Ingo, Chrast, Roman, Michiue, Tatsuo, Bennett, David L H, Woods, C Geoffrey, Senderek, Jan
Published in Nature genetics (01.07.2015)
Published in Nature genetics (01.07.2015)
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Rescue of aberrant huntingtin palmitoylation ameliorates mutant huntingtin-induced toxicity
Lemarié, Fanny L., Caron, Nicholas S., Sanders, Shaun S., Schmidt, Mandi E., Nguyen, Yen T.N., Ko, Seunghyun, Xu, Xiaohong, Pouladi, Mahmoud A., Martin, Dale D.O., Hayden, Michael R.
Published in Neurobiology of disease (01.10.2021)
Published in Neurobiology of disease (01.10.2021)
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Phylogenetic analysis reveals key residues in substrate hydrolysis in the isomaltase domain of sucrase-isomaltase and its role in starch digestion
Chaudet, Marcia M., Amiri, Mahdi, Marth, Nathalie, Naim, Hassan Y., Rose, David R.
Published in Biochimica et biophysica acta. General subjects (01.09.2019)
Published in Biochimica et biophysica acta. General subjects (01.09.2019)
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Identification and Functional Characterization of ERK/MAPK Phosphorylation Sites in the Runx2 Transcription Factor
Ge, Chunxi, Xiao, Guozhi, Jiang, Di, Yang, Qian, Hatch, Nan E., Roca, Hernan, Franceschi, Renny T.
Published in The Journal of biological chemistry (20.11.2009)
Published in The Journal of biological chemistry (20.11.2009)
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FUT2 Variants Confer Susceptibility to Familial Otitis Media
Santos-Cortez, Regie Lyn P., Chiong, Charlotte M., Frank, Daniel N., Ryan, Allen F., Giese, Arnaud P.J., Bootpetch Roberts, Tori, Daly, Kathleen A., Steritz, Matthew J., Szeremeta, Wasyl, Pedro, Melquiadesa, Pine, Harold, Yarza, Talitha Karisse L., Scholes, Melissa A., Llanes, Erasmo Gonzalo d.V., Yousaf, Saira, Friedman, Norman, Tantoco, Ma. Leah C., Wine, Todd M., Labra, Patrick John, Benoit, Jeanne, Ruiz, Amanda G., de la Cruz, Rhodieleen Anne R., Greenlee, Christopher, Yousaf, Ayesha, Cardwell, Jonathan, Nonato, Rachelle Marie A., Ray, Dylan, Ong, Kimberly Mae C., So, Edward, Robertson, Charles E., Dinwiddie, Jordyn, Lagrana-Villagracia, Sheryl Mae, Gubbels, Samuel P., Shaikh, Rehan S., Cass, Stephen P., Einarsdottir, Elisabet, Lee, Nanette R., Schwartz, David A., Gloria-Cruz, Teresa Luisa I., Bamshad, Michael J., Yang, Ivana V., Kere, Juha, Abes, Generoso T., Prager, Jeremy D., Riazuddin, Saima, Chan, Abner L., Yoon, Patricia J., Nickerson, Deborah A., Cutiongco-de la Paz, Eva Maria, Streubel, Sven-Olrik, Reyes-Quintos, Maria Rina T., Jenkins, Herman A., Mattila, Petri, Chan, Kenny H., Mohlke, Karen L., Leal, Suzanne M., Hafrén, Lena, Chonmaitree, Tasnee, Sale, Michele M., Ahmed, Zubair M.
Published in American journal of human genetics (01.11.2018)
Published in American journal of human genetics (01.11.2018)
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Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia
Esteves, Typhaine, Durr, Alexandra, Mundwiller, Emeline, Loureiro, José L., Boutry, Maxime, Gonzalez, Michael A., Gauthier, Julie, El-Hachimi, Khalid H., Depienne, Christel, Muriel, Marie-Paule, Acosta Lebrigio, Rafael F., Gaussen, Marion, Noreau, Anne, Speziani, Fiorella, Dionne-Laporte, Alexandre, Deleuze, Jean-François, Dion, Patrick, Coutinho, Paula, Rouleau, Guy A., Zuchner, Stephan, Brice, Alexis, Stevanin, Giovanni, Darios, Frédéric
Published in American journal of human genetics (06.02.2014)
Published in American journal of human genetics (06.02.2014)
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An Acetylation Site in the Middle Domain of Hsp90 Regulates Chaperone Function
Scroggins, Bradley T., Robzyk, Kenneth, Wang, Dongxia, Marcu, Monica G., Tsutsumi, Shinji, Beebe, Kristin, Cotter, Robert J., Felts, Sara, Toft, David, Karnitz, Larry, Rosen, Neal, Neckers, Len
Published in Molecular cell (12.01.2007)
Published in Molecular cell (12.01.2007)
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