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Targeting Huntingtin Expression in Patients with Huntington's Disease.
New England Journal of Medicine, 2019 BACKGROUND
Huntington's disease is an autosomal-dominant neurodegenerative disease caused by CAG trinucleotide repeat expansion in HTT, resulting in a mutant huntingtin protein.S. Tabrizi, B. Leavitt, G. Landwehrmeyer, E. Wild, C. Saft, Roger A. Barker, Nick F. Blair, D. Craufurd, J. Priller, H. Rickards, A. Rosser, H. Kordasiewicz, C. Czech, E. Swayze, D. Norris, Tiffany L. Baumann, I. Gerlach, S. Schobel, E. Paz, Anne V Smith, C. Bennett, Roger M. Lane +21 moresemanticscholar +1 more sourceMutant huntingtin and neurofilament light have distinct longitudinal dynamics in Huntington’s disease
Science Translational Medicine, 2020 Longitudinal analysis in 80 patients shows that mutant huntingtin and neurofilament light could predict Huntington’s disease progression. Protein dynamics in HD Huntington’s disease (HD) is a neurodegenerative disorder caused by mutations in the ...F. B. Rodrigues, L. Byrne, R. Tortelli, E. Johnson, P. Wijeratne, M. Arridge, E. de Vita, Naghmeh Ghazaleh, R. Houghton, H. Furby, D. Alexander, S. Tabrizi, S. Schobel, R. Scahill, A. Heslegrave, H. Zetterberg, E. Wild +16 moresemanticscholar +1 more sourceMutations causing Lopes-Maciel-Rodan Syndrome are huntingtin hypomorphs.
Human Molecular Genetics, 2021 Huntington's disease (HD) pathogenesis involves a genetic gain-of-function toxicity mechanism triggered by the expanded HTT CAG repeat. Current therapeutic efforts aim to suppress expression of total or mutant huntingtin, though the relationship of ...Roy Jung, Yejin Lee, Douglas D. Barker, Kevin Correia, Baehyun Shin, Jacob M. Loupe, Ryan L. Collins, D. Lucente, Jayla Ruliera, T. Gillis, J. Mysore, Lance H Rodan, J. Picker, Jong-Min Lee, D. Howland, Ramee Lee, S. Kwak, M. MacDonald, J. Gusella, I. Seong +19 moresemanticscholar +1 more sourceA Huntingtin Peptide Inhibits PolyQ-Huntingtin Associated Defects
PLoS ONE, 2013 Huntington's disease (HD) is caused by the abnormal expansion of the polyglutamine tract in the human Huntingtin protein (polyQ-hHtt). Although this mutation behaves dominantly, huntingtin loss of function also contributes to HD pathogenesis. Indeed, wild-type Huntingtin plays a protective role with respect to polyQ-hHtt induced defects.The question ...Arribat, Yoan, Bonneaud, Nathalie, Talmat-Amar, Yasmina, Layalle, Sophie, Parmentier, Marie-Laure, Maschat, Florence +5 moreopenaire +6 more sourcesPathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Neuron, 2020 We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 Ramita Dewan, Ruth Chia, Jinhui Ding, R. Hickman, T. Stein, Yevgeniya A. Abramzon, Sarah Ahmed, M. Sabir, Makayla K Portley, A. Tucci, K. Ibáñez, Fnu Shankaracharya, Pamela J. Keagle, G. Rossi, P. Caroppo, F. Tagliavini, M. L. Waldo, P. Johansson, C. Nilsson, J. Rowe, L. Benussi, G. Binetti, R. Ghidoni, E. Jabbari, C. Viollet, J. Glass, A. Singleton, V. Silani, O. Ross, M. Ryten, A. Torkamani, Toshiko Tanaka, L. Ferrucci, S. Resnick, S. Pickering-Brown, C. Brady, Neil Kowal, J. Hardy, V. Deerlin, J. Vonsattel, M. Harms, H. Morris, R. Ferrari, J. Landers, A. Chiò, J. R. Gibbs, C. Dalgard, Sonja W. Scholz, B. Traynor, A. Adeleye, C. Alba, D. Bačíková, D. Hupalo, Elisa McGrath Martinez, H. Pollard, G. Sukumar, A. Soltis, Meila Tuck, Xijun Zhang, M. Wilkerson, Bradley N. Smith, N. Ticozzi, C. Fallini, A. Gkazi, S. Topp, J. Kost, Emma L. Scotter, K. Kenna, Jack W. Miller, C. Tiloca, C. Vance, E. W. Danielson, C. Troakes, C. Colombrita, S. Al-Sarraj, Elizabeth A. Lewis, A. King, D. Calini, V. Pensato, B. Castellotti, J. Belleroche, F. Baas, A. T. Asbroek, P. Sapp, D. McKenna-Yasek, R. Mclaughlin, M. Polak, S. Asress, J. Esteban-Pérez, J. Muñoz-Blanco, Z. Stevic, S. D'alfonso, L. Mazzini, G. Comi, R. Bo, M. Ceroni, S. Gagliardi, G. Querin, C. Bertolin, W. V. Rheenen, F. Diekstra, R. Rademakers, M. Blitterswijk, K. Boylan, G. Lauria, S. Duga, S. Corti, Cristina Cereda, L. Corrado, G. Soraru', K. Williams, G. Nicholson, I. Blair, Claire Leblond-Manry, G. Rouleau, O. Hardiman, K. Morrison, J. Veldink, L. H. Berg, A. Al-Chalabi, H. Pall, P. Shaw, M. Turner, K. Talbot, F. Taroni, A. García-Redondo, Zheyang Wu, C. Gellera, A. Ratti, Robert H. Brown, C. Shaw, J. Ambrose, P. Arumugam, E. Baple, M. Bleda, F. Boardman-Pretty, J. Boissiere, C. Boustred, H. Brittain, M. Caulfield, G. Chan, C. Craig, L. Daugherty, Anna de Burca, A. Devereau, G. Elgar, R. Foulger, T. Fowler, P. Furió-Tarí, J. Hackett, D. Halai, A. Hamblin, S. Henderson, J. Holman, T. Hubbard, R. Jackson, L. J. Jones, Dalia Kasperavičiūtė, M. Kayikci, L. Lahnstein, K. Lawson, S. Leigh, I. Leong, J. F. López, F. Maleady-Crowe, J. Mason, E. McDonagh, L. Moutsianas, Michael Mueller, N. Murugaesu, A. Need, C. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, K. Savage, K. Sawant, R. Scott, A. Siddiq, A. Sieghart, D. Smedley, Katherine R. Smith, A. Sosinsky, W. Spooner, H. E. Stevens, A. Stuckey, R. Sultana, E. Thomas, S. Thompson, C. Tregidgo, E. Walsh, S. Watters, M. Welland, E. Williams, K. Witkowska, S. Wood, M. Zarowiecki, S. Arepalli, Pavan K. Auluck, R. Baloh, R. Bowser, A. Brice, J. Broach, W. Camu, Johnathan Cooper-Knock, P. Corcia, C. Drepper, V. Drory, T. Dunckley, F. Faghri, Jennifer Farren, E. Feldman, M. Floeter, P. Fratta, Glenn Gerhard, S. Gibson, Stephen A. Goutman, T. Heiman-Patterson, D. Hernandez, Ben Hoover, Lilja Jansson, F. Kamel, J. Kirby, N. Kowall, Hannu Laaksovirta, F. Landi, I. Ber, S. Lumbroso, D. Macgowan, N. Maragakis, G. Mora, K. Mouzat, L. Myllykangas, M. Nalls, R. Orrell, L. Ostrow, R. Pamphlett, E. Pioro, S. Pulst, J. Ravits, A. Renton, W. Robberecht, I. Robey, E. Rogaeva, J. Rothstein, M. Sendtner, K. Sidle, Z. Simmons, D. Stone, P. Tienari, J. Trojanowski, J. Troncoso, M. Valori, P. Damme, L. Bosch, L. Zinman, D. Albani, B. Borroni, A. Padovani, A. Bruni, J. Clarimón, O. Dols-Icardo, I. Illán-Gala, A. Lleó, A. Danek, D. Galimberti, E. Scarpini, M. Serpente, C. Graff, H. Chiang, Behzad Khoshnood, Linn Öijerstedt, C. Morris, B. Nacmias, S. Sorbi, J. Nielsen, Lynne E. Hjermind, V. Novelli, A. Puca, P. Pastor, I. Álvarez, M. Diez-Fairen, M. Aguilar, R. Perneczky, Janine Diehl-Schimd, M. Rossi, A. Ruiz, M. Boada, I. Hernández, S. Moreno-Grau, J. Schlachetzki, D. Aarsland, M. Albert, J. Attems, M. Barrett, T. Beach, L. Bekris, D. Bennett, Lilah M. Besser, E. Bigio, S. Black, B. Boeve, Ryan C. Bohannan, F. Brett, M. Brunetti, C. Caraway, J. Palma, A. Calvo, A. Canosa, D. Dickson, C. Duyckaerts, K. Faber, T. Ferman, M. Flanagan, G. Floris, T. Foroud, J. Fortea, Z. Gan-Or, S. Gentleman, B. Ghetti, J. R. Gibbs, A. Goate, D. Goldstein, I. González‐Aramburu, N. Graff-Radford, A. Hodges, Heng Hu, D. Hupalo, J. Infante, Á. Iranzo, S. M. Kaiser, H. Kaufmann, J. Keith, R. Kim, G. Klein, R. Krüger, W. Kukull, Amanda P. Kuzma, C. Lage, S. Lesage, J. Leverenz, G. Logroscino, G. Lopez, S. Love, Q. Mao, M. Marti, Elisa Martinez-McGrath, M. Masellis, E. Masliah, P. May, I. McKeith, M. Mesulam, E. Monuki, K. Newell, L. Norcliffe-Kaufmann, L. Palmer, Matthew Perkins, O. Pletnikova, L. Molina-Porcel, R. Reynolds, E. Rodríguez-Rodríguez, J. Rohrer, P. Sánchez-Juan, C. Scherzer, G. Serrano, V. Shakkottai, E. Sidransky, N. Tayebi, Alan J. Thomas, B. Tilley, Ronald L. Walton, R. Woltjer, Z. Wszolek, G. Xiromerisiou, C. Zecca, H. Phatnani, J. Kwan, D. Sareen, J. Broach, Ximena Arcila-Londono, Eddie B. Lee, N. Shneider, E. Fraenkel, N. Zaitlen, J. Berry, A. Malaspina, G. Cox, L. Thompson, S. Finkbeiner, E. Dardiotis, Timothy A. Miller, S. Chandran, S. Pal, E. Hornstein, D. Macgowan, T. Heiman-Patterson, M. Hammell, N. Patsopoulos, O. Butovsky, J. Dubnau, A. Nath, Matthew M Harms, E. Aronica, M. Poss, Jennifer Phillips-Cremins, J. Crary, N. Atassi, D. Lange, Darius J. Adams, L. Stefanis, M. Gotkine, Suma Babu, T. Raj, S. Paganoni, Ophir Shalem, Colin Smith, Bin Zhang, Brent T. Harris, Iris J. Broce, V. Drory, J. Ravits, C. Mcmillan, V. Menon, Lani Wu, S. Altschuler, Khaled Amar, N. Archibald, O. Bandmann, E. Capps, A. Church, J. Coebergh, Alyssa A. Costantini, P. Critchley, B. Ghosh, M. Hu, C. Kobylecki, P. Leigh, C. Mann, L. Massey, U. Nath, N. Pavese, D. Paviour, J. Sharma, J. Vaughan +448 moresemanticscholar +1 more sourceHuntingtin Regulates Mammary Stem Cell Division and Differentiation
Stem Cell Reports, 2014 Little is known about the mechanisms of mitotic spindle orientation during mammary gland morphogenesis. Here, we report the presence of huntingtin, the protein mutated in Huntington’s disease, in mouse mammary basal and luminal cells throughout ...Salah Elias, Morgane S. Thion, Hua Yu, Cristovao Marques Sousa, Charlène Lasgi, Xavier Morin, Sandrine Humbert +6 moredoaj +1 more source
