Early detection of exon 1 huntingtin aggregation in zQ175 brains by molecular and histological approaches

por Smith, Edward J, Sathasivam, Kirupa, Landles, Christian, Osborne, Georgina F, Mason, Michael A, Gomez-Paredes, Casandra, Taxy, Bridget A, Milton, Rebecca E, Ast, Anne, Schindler, Franziska, Zhang, Chuangchuang, Duan, Wenzhen, Wanker, Erich E, Bates, Gillian P
Publicado 2023

Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson’s Disease

por Tan, Manuela M.X., Lawton, Michael A., Jabbari, Edwin, Reynolds, Regina H., Iwaki, Hirotaka, Blauwendraat, Cornelis, Kanavou, Sofia, Pollard, Miriam I., Hubbard, Leon, Malek, Naveed, Grosset, Katherine A., Marrinan, Sarah L., Bajaj, Nin, Barker, Roger A., Burn, David J., Bresner, Catherine, Foltynie, Thomas, Wood, Nicholas W., Williams-Gray, Caroline H., Hardy, John, Nalls, Michael A., Singleton, Andrew B., Williams, Nigel M., Ben-Shlomo, Yoav, Hu, Michele T.M., Grosset, Donald G., Shoai, Maryam, Morris, Huw R.
Publicado 2021

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission

por Shahni, Rojeen, Cale, Catherine M., Anderson, Glenn, Osellame, Laura D., Hambleton, Sophie, Jacques, Thomas S., Wedatilake, Yehani, Taanman, Jan-Willem, Chan, Emma, Qasim, Waseem, Plagnol, Vincent, Chalasani, Annapurna, Duchen, Michael R., Gilmour, Kimberly C., Rahman, Shamima
Publicado 2015

The Sirtuin-2 Inhibitor AK7 Is Neuroprotective in Models of Parkinson’s Disease but Not Amyotrophic Lateral Sclerosis and Cerebral Ischemia

por Chen, Xiqun, Wales, Pauline, Quinti, Luisa, Zuo, Fuxing, Moniot, Sébastien, Herisson, Fanny, Rauf, Nazifa Abdul, Wang, Hua, Silverman, Richard B., Ayata, Cenk, Maxwell, Michelle M., Steegborn, Clemens, Schwarzschild, Michael A., Outeiro, Tiago F., Kazantsev, Aleksey G.
Publicado 2015

Mutant huntingtin enhances activation of dendritic Kv4 K(+) channels in striatal spiny projection neurons

por Carrillo-Reid, Luis, Day, Michelle, Xie, Zhong, Melendez, Alexandria E, Kondapalli, Jyothisri, Plotkin, Joshua L, Wokosin, David L, Chen, Yu, Kress, Geraldine J, Kaplitt, Michael, Ilijic, Ema, Guzman, Jaime N, Chan, C Savio, Surmeier, D James
Publicado 2019

CAG-encoded polyglutamine length polymorphism in the human genome

por Butland, Stefanie L, Devon, Rebecca S, Huang, Yong, Mead, Carri-Lyn, Meynert, Alison M, Neal, Scott J, Lee, Soo Sen, Wilkinson, Anna, Yang, George S, Yuen, Macaire MS, Hayden, Michael R, Holt, Robert A, Leavitt, Blair R, Ouellette, BF Francis
Publicado 2007

Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin

por Okamoto, Shu-ichi, Pouladi, Mahmoud A., Talantova, Maria, Yao, Dongdong, Xia, Peng, Ehrnhoefer, Dagmar E., Zaidi, Rameez, Clemente, Arjay, Kaul, Marcus, Graham, Rona K., Zhang, Dongxian, Chen, H.-S. Vincent, Tong, Gary, Hayden, Michael R., Lipton, Stuart A.
Publicado 2009

MUTANT HUNTINGTIN BINDS THE MITOCHONDRIAL FISSION GTPASE DRP1 AND INCREASES ITS ENZYMATIC ACTIVTY

por Song, Wenjun, Chen, Jin, Petrilli, Alejandra, Liot, Geraldine, Klinglmayr, Eva, Zhou, Yue, Poquiz, Patrick, Tjong, Jonathan, Pouladi, Mahmoud A., Hayden, Michael R., Masliah, Eliezer, Ellisman, Mark, Rouiller, Isabelle, Schwarzenbacher, Robert, Bossy, Blaise, Perkins, Guy, Bossy-Wetzel, Ella
Publicado 2011

Potential molecular consequences of transgene integration: The R6/2 mouse example

por Jacobsen, Jessie C., Erdin, Serkan, Chiang, Colby, Hanscom, Carrie, Handley, Renee R., Barker, Douglas D., Stortchevoi, Alex, Blumenthal, Ian, Reid, Suzanne J., Snell, Russell G., MacDonald, Marcy E., Morton, A. Jennifer, Ernst, Carl, Gusella, James F., Talkowski, Michael E.
Publicado 2017

pS421 huntingtin modulates mitochondrial phenotypes and confers neuroprotection in an HD hiPSC model

por Xu, Xiaohong, Ng, Bryan, Sim, Bernice, Radulescu, Carola I., Yusof, Nur Amirah Binte Mohammad, Goh, Wah Ing, Lin, Shuping, Lim, John Soon Yew, Cha, Yoonjeong, Kusko, Rebecca, Kay, Chris, Ratovitski, Tamara, Ross, Christopher, Hayden, Michael R., Wright, Graham, Pouladi, Mahmoud A.
Publicado 2020

Gross feature recognition of Anatomical Images based on Atlas grid (GAIA): Incorporating the local discrepancy between an atlas and a target image to capture the features of anatom...

por Qin, Yuan-Yuan, Hsu, Johnny T., Yoshida, Shoko, Faria, Andreia V., Oishi, Kumiko, Unschuld, Paul G., Redgrave, Graham W., Ying, Sarah H., Ross, Christopher A., van Zijl, Peter C.M., Hillis, Argye E., Albert, Marilyn S., Lyketsos, Constantine G., Miller, Michael I., Mori, Susumu, Oishi, Kenichi
Publicado 2013

Grambank reveals the importance of genealogical constraints on linguistic diversity and highlights the impact of language loss

por Skirgård, Hedvig, Haynie, Hannah J., Blasi, Damián E., Hammarström, Harald, Collins, Jeremy, Latarche, Jay J., Lesage, Jakob, Weber, Tobias, Witzlack-Makarevich, Alena, Passmore, Sam, Chira, Angela, Maurits, Luke, Dinnage, Russell, Dunn, Michael, Reesink, Ger, Singer, Ruth, Bowern, Claire, Epps, Patience, Hill, Jane, Vesakoski, Outi, Robbeets, Martine, Abbas, Noor Karolin, Auer, Daniel, Bakker, Nancy A., Barbos, Giulia, Borges, Robert D., Danielsen, Swintha, Dorenbusch, Luise, Dorn, Ella, Elliott, John, Falcone, Giada, Fischer, Jana, Ghanggo Ate, Yustinus, Gibson, Hannah, Göbel, Hans-Philipp, Goodall, Jemima A., Gruner, Victoria, Harvey, Andrew, Hayes, Rebekah, Heer, Leonard, Herrera Miranda, Roberto E., Hübler, Nataliia, Huntington-Rainey, Biu, Ivani, Jessica K., Johns, Marilen, Just, Erika, Kashima, Eri, Kipf, Carolina, Klingenberg, Janina V., König, Nikita, Koti, Aikaterina, Kowalik, Richard G. A., Krasnoukhova, Olga, Lindvall, Nora L. M., Lorenzen, Mandy, Lutzenberger, Hannah, Martins, Tânia R. A., Mata German, Celia, van der Meer, Suzanne, Montoya Samamé, Jaime, Müller, Michael, Muradoglu, Saliha, Neely, Kelsey, Nickel, Johanna, Norvik, Miina, Oluoch, Cheryl Akinyi, Peacock, Jesse, Pearey, India O. C., Peck, Naomi, Petit, Stephanie, Pieper, Sören, Poblete, Mariana, Prestipino, Daniel, Raabe, Linda, Raja, Amna, Reimringer, Janis, Rey, Sydney C., Rizaew, Julia, Ruppert, Eloisa, Salmon, Kim K., Sammet, Jill, Schembri, Rhiannon, Schlabbach, Lars, Schmidt, Frederick W. P., Skilton, Amalia, Smith, Wikaliler Daniel, de Sousa, Hilário, Sverredal, Kristin, Valle, Daniel, Vera, Javier, Voß, Judith, Witte, Tim, Wu, Henry, Yam, Stephanie, Ye, Jingting, Yong, Maisie, Yuditha, Tessa, Zariquiey, Roberto, Forkel, Robert, Evans, Nicholas, Levinson, Stephen C., Haspelmath, Martin, Greenhill, Simon J., Atkinson, Quentin D., Gray, Russell D.
Publicado 2023

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

por Nethisinghe, Suran, Lim, Wei N., Ging, Heather, Zeitlberger, Anna, Abeti, Rosella, Pemble, Sally, Sweeney, Mary G., Labrum, Robyn, Cervera, Charisse, Houlden, Henry, Rosser, Elisabeth, Limousin, Patricia, Kennedy, Angus, Lunn, Michael P., Bhatia, Kailash P., Wood, Nicholas W., Hardy, John, Polke, James M., Veneziano, Liana, Brusco, Alfredo, Davis, Mary B., Giunti, Paola
Publicado 2018

Genome-wide RNAseq study of the molecular mechanisms underlying microglia activation in response to pathological tau perturbation in the rTg4510 tau transgenic animal model

por Wang, Hong, Li, Yupeng, Ryder, John W., Hole, Justin T., Ebert, Philip J., Airey, David C., Qian, Hui-Rong, Logsdon, Benjamin, Fisher, Alice, Ahmed, Zeshan, Murray, Tracey K., Cavallini, Annalisa, Bose, Suchira, Eastwood, Brian J., Collier, David A., Dage, Jeffrey L., Miller, Bradley B., Merchant, Kalpana M., O’Neill, Michael J., Demattos, Ronald B.
Publicado 2018

The Wnt Receptor Ryk Reduces Neuronal and Cell Survival Capacity by Repressing FOXO Activity During the Early Phases of Mutant Huntingtin Pathogenicity

por Tourette, Cendrine, Farina, Francesca, Vazquez-Manrique, Rafael P., Orfila, Anne-Marie, Voisin, Jessica, Hernandez, Sonia, Offner, Nicolas, Parker, J. Alex, Menet, Sophie, Kim, Jinho, Lyu, Jungmok, Choi, Si Ho, Cormier, Kerry, Edgerly, Christina K., Bordiuk, Olivia L., Smith, Karen, Louise, Anne, Halford, Michael, Stacker, Steven, Vert, Jean-Philippe, Ferrante, Robert J., Lu, Wange, Neri, Christian
Publicado 2014

Detection of long repeat expansions from PCR-free whole-genome sequence data

por Dolzhenko, Egor, van Vugt, Joke J.F.A., Shaw, Richard J., Bekritsky, Mitchell A., van Blitterswijk, Marka, Narzisi, Giuseppe, Ajay, Subramanian S., Rajan, Vani, Lajoie, Bryan R., Johnson, Nathan H., Kingsbury, Zoya, Humphray, Sean J., Schellevis, Raymond D., Brands, William J., Baker, Matt, Rademakers, Rosa, Kooyman, Maarten, Tazelaar, Gijs H.P., van Es, Michael A., McLaughlin, Russell, Sproviero, William, Shatunov, Aleksey, Jones, Ashley, Al Khleifat, Ahmad, Pittman, Alan, Morgan, Sarah, Hardiman, Orla, Al-Chalabi, Ammar, Shaw, Chris, Smith, Bradley, Neo, Edmund J., Morrison, Karen, Shaw, Pamela J., Reeves, Catherine, Winterkorn, Lara, Wexler, Nancy S., Housman, David E., Ng, Christopher W., Li, Alina L., Taft, Ryan J., van den Berg, Leonard H., Bentley, David R., Veldink, Jan H., Eberle, Michael A.
Publicado 2017

Guidelines on experimental methods to assess mitochondrial dysfunction in cellular models of neurodegenerative diseases

por Connolly, Niamh M. C., Theurey, Pierre, Adam-Vizi, Vera, Bazan, Nicolas G., Bernardi, Paolo, Bolaños, Juan P., Culmsee, Carsten, Dawson, Valina L., Deshmukh, Mohanish, Duchen, Michael R., Düssmann, Heiko, Fiskum, Gary, Galindo, Maria F., Hardingham, Giles E., Hardwick, J. Marie, Jekabsons, Mika B., Jonas, Elizabeth A., Jordán, Joaquin, Lipton, Stuart A., Manfredi, Giovanni, Mattson, Mark P., McLaughlin, BethAnn, Methner, Axel, Murphy, Anne N., Murphy, Michael P., Nicholls, David G., Polster, Brian M., Pozzan, Tullio, Rizzuto, Rosario, Satrústegui, Jorgina, Slack, Ruth S., Swanson, Raymond A., Swerdlow, Russell H., Will, Yvonne, Ying, Zheng, Joselin, Alvin, Gioran, Anna, Moreira Pinho, Catarina, Watters, Orla, Salvucci, Manuela, Llorente-Folch, Irene, Park, David S., Bano, Daniele, Ankarcrona, Maria, Pizzo, Paola, Prehn, Jochen H. M.
Publicado 2017

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

por Bettencourt, Conceição, Hensman‐Moss, Davina, Flower, Michael, Wiethoff, Sarah, Brice, Alexis, Goizet, Cyril, Stevanin, Giovanni, Koutsis, Georgios, Karadima, Georgia, Panas, Marios, Yescas‐Gómez, Petra, García‐Velázquez, Lizbeth Esmeralda, Alonso‐Vilatela, María Elisa, Lima, Manuela, Raposo, Mafalda, Traynor, Bryan, Sweeney, Mary, Wood, Nicholas, Giunti, Paola, Durr, Alexandra, Holmans, Peter, Houlden, Henry, Tabrizi, Sarah J., Jones, Lesley
Publicado 2016

Systematic interaction network filtering identifies CRMP1 as a novel suppressor of huntingtin misfolding and neurotoxicity

por Stroedicke, Martin, Bounab, Yacine, Strempel, Nadine, Klockmeier, Konrad, Yigit, Sargon, Friedrich, Ralf P., Chaurasia, Gautam, Li, Shuang, Hesse, Franziska, Riechers, Sean-Patrick, Russ, Jenny, Nicoletti, Cecilia, Boeddrich, Annett, Wiglenda, Thomas, Haenig, Christian, Schnoegl, Sigrid, Fournier, David, Graham, Rona K., Hayden, Michael R., Sigrist, Stephan, Bates, Gillian P., Priller, Josef, Andrade-Navarro, Miguel A., Futschik, Matthias E., Wanker, Erich E.
Publicado 2015

Small molecule splicing modifiers with systemic HTT-lowering activity

por Bhattacharyya, Anuradha, Trotta, Christopher R., Narasimhan, Jana, Wiedinger, Kari J., Li, Wencheng, Effenberger, Kerstin A., Woll, Matthew G., Jani, Minakshi B., Risher, Nicole, Yeh, Shirley, Cheng, Yaofeng, Sydorenko, Nadiya, Moon, Young-Choon, Karp, Gary M., Weetall, Marla, Dakka, Amal, Gabbeta, Vijayalakshmi, Naryshkin, Nikolai A., Graci, Jason D., Tripodi, Thomas, Southwell, Amber, Hayden, Michael, Colacino, Joseph M., Peltz, Stuart W.
Publicado 2021