Structural biology of presenilin 1 complexes

por Li, Yi, Bohm, Christopher, Dodd, Roger, Chen, Fusheng, Qamar, Seema, Schmitt-Ulms, Gerold, Fraser, Paul E, St George-Hyslop, Peter H
Publicado 2014

Regulation of membrane fluidity by RNF145‐triggered degradation of the lipid hydrolase ADIPOR2

por Volkmar, Norbert, Gawden‐Bone, Christian M, Williamson, James C, Nixon‐Abell, Jonathon, West, James A, St George‐Hyslop, Peter H, Kaser, Arthur, Lehner, Paul J
Publicado 2022

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

por Orlacchio, Antonio, Babalini, Carla, Borreca, Antonella, Patrono, Clarice, Massa, Roberto, Basaran, Sarenur, Munhoz, Renato P., Rogaeva, Ekaterina A., St George-Hyslop, Peter H., Bernardi, Giorgio, Kawarai, Toshitaka
Publicado 2010

Reactive or transgenic increase in microglial TYROBP reveals a TREM2‐independent TYROBP–APOE link in wild‐type and Alzheimer's‐related mice

por Audrain, Mickael, Haure‐Mirande, Jean‐Vianney, Mleczko, Justyna, Wang, Minghui, Griffin, Jennifer K., St George‐Hyslop, Peter H., Fraser, Paul, Zhang, Bin, Gandy, Sam, Ehrlich, Michelle E.
Publicado 2020

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

por Montecchiani, Celeste, Pedace, Lucia, Lo Giudice, Temistocle, Casella, Antonella, Mearini, Marzia, Gaudiello, Fabrizio, Pedroso, José L., Terracciano, Chiara, Caltagirone, Carlo, Massa, Roberto, St George-Hyslop, Peter H., Barsottini, Orlando G. P., Kawarai, Toshitaka, Orlacchio, Antonio
Publicado 2016

Integrative approach to sporadic Alzheimer’s disease: deficiency of TYROBP in a tauopathy mouse model reduces C1q and normalizes clinical phenotype while increasing spread and stat...

por Audrain, Mickael, Haure-Mirande, Jean-Vianney, Wang, Minghui, Kim, Soong Ho, Fanutza, Tomas, Chakrabarty, Paramita, Fraser, Paul, St George-Hyslop, Peter H., Golde, Todd E., Blitzer, Robert D., Schadt, Eric E., Zhang, Bin, Ehrlich, Michelle E., Gandy, Sam
Publicado 2018

TREM2 shedding by cleavage at the H157‐S158 bond is accelerated for the Alzheimer's disease‐associated H157Y variant

por Thornton, Peter, Sevalle, Jean, Deery, Michael J, Fraser, Graham, Zhou, Ye, Ståhl, Sara, Franssen, Elske H, Dodd, Roger B, Qamar, Seema, Gomez Perez‐Nievas, Beatriz, Nicol, Louise SC, Eketjäll, Susanna, Revell, Jefferson, Jones, Clare, Billinton, Andrew, St George‐Hyslop, Peter H, Chessell, Iain, Crowther, Damian C
Publicado 2017

Structural Interactions between Inhibitor and Substrate Docking Sites Give Insight into Mechanisms of Human PS1 Complexes

por Li, Yi, Lu, Stephen Hsueh-Jeng, Tsai, Ching-Ju, Bohm, Christopher, Qamar, Seema, Dodd, Roger B., Meadows, William, Jeon, Amy, McLeod, Adam, Chen, Fusheng, Arimon, Muriel, Berezovska, Oksana, Hyman, Bradley T., Tomita, Taisuke, Iwatsubo, Takeshi, Johnson, Christopher M., Farrer, Lindsay A., Schmitt-Ulms, Gerold, Fraser, Paul E., St George-Hyslop, Peter H.
Publicado 2014

A NOVEL ALZHEIMER DISEASE LOCUS LOCATED NEAR THE GENE ENCODING TAU PROTEIN

por Jun, Gyungah, Ibrahim-Verbaas, Carla A., Vronskaya, Maria, Lambert, Jean-Charles, Chung, Jaeyoon, Naj, Adam C., Kunkle, Brian W., Wang, Li-San, Bis, Joshua C., Bellenguez, Céline, Harold, Denise, Lunetta, Kathryn L., Destefano, Anita L., Grenier-Boley, Benjamin, Sims, Rebecca, Beecham, Gary W., Smith, Albert V., Chouraki, Vincent, Hamilton-Nelson, Kara L., Ikram, M. Arfan, Fievet, Nathalie, Denning, Nicola, Martin, Eden R., Schmidt, Helena, Kamatani, Yochiro, Dunstan, Melanie L, Valladares, Otto, Laza, Agustin Ruiz, Zelenika, Diana, Ramirez, Alfredo, Foroud, Tatiana M., Choi, Seung-Hoan, Boland, Anne, Becker, Tim, Kukull, Walter A., van der Lee, Sven J., Pasquier, Florence, Cruchaga, Carlos, Beekly, Duane, Fitzpatrick, Annette L., Hanon, Oliver, Gill, Michael, Barber, Robert, Gudnason, Vilmundur, Campion, Dominique, Love, Seth, Bennett, David A., Amin, Najaf, Berr, Claudine, Tsolaki, Magda, Buxbaum, Joseph D., Lopez, Oscar L., Deramecourt, Vincent, Fox, Nick C, Cantwell, Laura B., Tárraga, Lluis, Dufouil, Carole, Hardy, John, Crane, Paul K., Eiriksdottir, Gudny, Hannequin, Didier, Clarke, Robert, Evans, Denis, Mosley, Thomas H., Letenneur, Luc, Brayne, Carol, Maier, Wolfgang, De Jager, Philip, Emilsson, Valur, Dartigues, Jean-François, Hampel, Harald, Kamboh, M. Ilyas, de Bruijn, Renee F.A.G., Tzourio, Christophe, Pastor, Pau, Larson, Eric B., Rotter, Jerome I., O’Donovan, Michael C, Montine, Thomas J., Nalls, Michael A., Mead, Simon, Reiman, Eric M., Jonsson, Palmi V., Holmes, Clive, St George-Hyslop, Peter H., Boada, Mercè, Passmore, Peter, Wendland, Jens R., Schmidt, Reinhold, Morgan, Kevin, Winslow, Ashley R., Powell, John F, Carasquillo, Minerva, Younkin, Steven G., Jakobsdóttir, Jóhanna, Kauwe, John SK, Wilhelmsen, Kirk C., Rujescu, Dan, Nöthen, Markus M, Hofman, Albert, Jones, Lesley, Haines, Jonathan L., Psaty, Bruce M., Van Broeckhoven, Christine, Holmans, Peter, Launer, Lenore J., Mayeux, Richard, Lathrop, Mark, Goate, Alison M., Escott-Price, Valentina, Seshadri, Sudha, Pericak-Vance, Margaret A., Amouyel, Philippe, Williams, Julie, van Duijn, Cornelia M., Schellenberg, Gerard D., Farrer, Lindsay A.
Publicado 2015