Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons

por Ludtmann, Marthe H. R., Arber, Charles, Bartolome, Fernando, de Vicente, Macarena, Preza, Elisavet, Carro, Eva, Houlden, Henry, Gandhi, Sonia, Wray, Selina, Abramov, Andrey Y.
Publicado 2017

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

por Liu, Yo-Tsen, Hersheson, Joshua, Plagnol, Vincent, Fawcett, Katherine, Duberley, Kate E C, Preza, Elisavet, Hargreaves, Iain P, Chalasani, Annapurna, Laurá, Matilde, Wood, Nick W, Reilly, Mary M, Houlden, Henry
Publicado 2014

iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease

por Arber, Charles, Angelova, Plamena R., Wiethoff, Sarah, Tsuchiya, Yugo, Mazzacuva, Francesca, Preza, Elisavet, Bhatia, Kailash P., Mills, Kevin, Gout, Ivan, Abramov, Andrey Y., Hardy, John, Duce, James A., Houlden, Henry, Wray, Selina
Publicado 2017

Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels

por Bartolome, Fernando, Wu, Hsiu-Chuan, Burchell, Victoria S., Preza, Elisavet, Wray, Selina, Mahoney, Colin J., Fox, Nick C., Calvo, Andrea, Canosa, Antonio, Moglia, Cristina, Mandrioli, Jessica, Chiò, Adriano, Orrell, Richard W., Houlden, Henry, Hardy, John, Abramov, Andrey Y., Plun-Favreau, Helene
Publicado 2013

Disruption of ER‐mitochondria tethering and signalling in C9orf72‐associated amyotrophic lateral sclerosis and frontotemporal dementia

por Gomez‐Suaga, Patricia, Mórotz, Gábor M., Markovinovic, Andrea, Martín‐Guerrero, Sandra M., Preza, Elisavet, Arias, Natalia, Mayl, Keith, Aabdien, Afra, Gesheva, Vesela, Nishimura, Agnes, Annibali, Ambra, Lee, Younbok, Mitchell, Jacqueline C., Wray, Selina, Shaw, Christopher, Noble, Wendy, Miller, Christopher C. J.
Publicado 2022

Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT

por Sposito, Teresa, Preza, Elisavet, Mahoney, Colin J., Setó-Salvia, Núria, Ryan, Natalie S., Morris, Huw R., Arber, Charles, Devine, Michael J., Houlden, Henry, Warner, Thomas T., Bushell, Trevor J., Zagnoni, Michele, Kunath, Tilo, Livesey, Frederick J., Fox, Nick C., Rossor, Martin N., Hardy, John, Wray, Selina
Publicado 2015

Progressive Motor Neuron Pathology and the Role of Astrocytes in a Human Stem Cell Model of VCP-Related ALS

por Hall, Claire E., Yao, Zhi, Choi, Minee, Tyzack, Giulia E., Serio, Andrea, Luisier, Raphaelle, Harley, Jasmine, Preza, Elisavet, Arber, Charlie, Crisp, Sarah J., Watson, P. Marc D., Kullmann, Dimitri M., Abramov, Andrey Y., Wray, Selina, Burley, Russell, Loh, Samantha H.Y., Martins, L. Miguel, Stevens, Molly M., Luscombe, Nicholas M., Sibley, Christopher R., Lakatos, Andras, Ule, Jernej, Gandhi, Sonia, Patani, Rickie
Publicado 2017

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

por Kara, Eleanna, Tucci, Arianna, Manzoni, Claudia, Lynch, David S., Elpidorou, Marilena, Bettencourt, Conceicao, Chelban, Viorica, Manole, Andreea, Hamed, Sherifa A., Haridy, Nourelhoda A., Federoff, Monica, Preza, Elisavet, Hughes, Deborah, Pittman, Alan, Jaunmuktane, Zane, Brandner, Sebastian, Xiromerisiou, Georgia, Wiethoff, Sarah, Schottlaender, Lucia, Proukakis, Christos, Morris, Huw, Warner, Tom, Bhatia, Kailash P., Korlipara, L.V. Prasad, Singleton, Andrew B., Hardy, John, Wood, Nicholas W., Lewis, Patrick A., Houlden, Henry
Publicado 2016

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion()

por Fratta, Pietro, Polke, James M., Newcombe, Jia, Mizielinska, Sarah, Lashley, Tammaryn, Poulter, Mark, Beck, Jon, Preza, Elisavet, Devoy, Anny, Sidle, Katie, Howard, Robin, Malaspina, Andrea, Orrell, Richard W., Clarke, Jan, Lu, Ching-Hua, Mok, Kin, Collins, Toby, Shoaii, Maryam, Nanji, Tina, Wray, Selina, Adamson, Gary, Pittman, Alan, Renton, Alan E., Traynor, Bryan J., Sweeney, Mary G., Revesz, Tamas, Houlden, Henry, Mead, Simon, Isaacs, Adrian M., Fisher, Elizabeth M.C.
Publicado 2015

G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo

por Simone, Roberto, Balendra, Rubika, Moens, Thomas G, Preza, Elisavet, Wilson, Katherine M, Heslegrave, Amanda, Woodling, Nathan S, Niccoli, Teresa, Gilbert‐Jaramillo, Javier, Abdelkarim, Samir, Clayton, Emma L, Clarke, Mica, Konrad, Marie‐Therese, Nicoll, Andrew J, Mitchell, Jamie S, Calvo, Andrea, Chio, Adriano, Houlden, Henry, Polke, James M, Ismail, Mohamed A, Stephens, Chad E, Vo, Tam, Farahat, Abdelbasset A, Wilson, W David, Boykin, David W, Zetterberg, Henrik, Partridge, Linda, Wray, Selina, Parkinson, Gary, Neidle, Stephen, Patani, Rickie, Fratta, Pietro, Isaacs, Adrian M
Publicado 2017

Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research

por Wray, Selina, Self, Matthew, Lewis, Patrick A., Taanman, Jan-Willem, Ryan, Natalie S., Mahoney, Colin J., Liang, Yuying, Devine, Michael J., Sheerin, Una-Marie, Houlden, Henry, Morris, Huw R., Healy, Daniel, Marti-Masso, Jose-Felix, Preza, Elisavet, Barker, Suzanne, Sutherland, Margaret, Corriveau, Roderick A., D'Andrea, Michael, Schapira, Anthony H. V., Uitti, Ryan J., Guttman, Mark, Opala, Grzegorz, Jasinska-Myga, Barbara, Puschmann, Andreas, Nilsson, Christer, Espay, Alberto J., Slawek, Jaroslaw, Gutmann, Ludwig, Boeve, Bradley F., Boylan, Kevin, Stoessl, A. Jon, Ross, Owen A., Maragakis, Nicholas J., Van Gerpen, Jay, Gerstenhaber, Melissa, Gwinn, Katrina, Dawson, Ted M., Isacson, Ole, Marder, Karen S., Clark, Lorraine N., Przedborski, Serge E., Finkbeiner, Steven, Rothstein, Jeffrey D., Wszolek, Zbigniew K., Rossor, Martin N., Hardy, John
Publicado 2012