Results 1 to 10 of about 247,506 (355)

Morphological characteristics of motor neurons do not determine their relative susceptibility to degeneration in a mouse model of severe spinal muscular atrophy [PDF]

, 2012
Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, resulting primarily from the degeneration and loss of lower motor neurons.
A Lionikas, AD Ebert, B Wirth, BJ Turner, C Cifuentes-Diaz, Chantal A. Mutsaers, CL Lorson, CM McCann, CM Mutsaers, CS Lobsiger, D Angaut-Petit, Derek Thomson, G Feng, G Valdez, G Vrbova, Gillian Hamilton, GZ Mentis, H Ilieva, Huaibin Cai, J Hegedus, J Pearn, JN Sleigh, Joya E. Nahon, K Talbot, KK Ling, KK Ling, L Kong, LM Murray, LM Murray, LM Murray, LR Fischer, M Ruggui, MC Brown, MR Lunn, R Dengler, S Kariya, S Kariya, S Lefebvre, S Pun, S Saxena, Simon H. Parson, Sophie R. Thomson, SR Thomson, T Yamazaki, TH Gillingwater, Thomas H. Gillingwater, UR Monani, WG Bradley, Z Feng   +48 more
core   +11 more sources

Sumoylation regulates the assembly and activity of the SMN complex

Nature Communications, 2021
Sumoylation is important for the assembly and function of the SMN complex, which plays a central role in RNA processing. Here the authors show that loss of this posttranslational modification impairs the ability of SMN to correct selective deficits in ...
Giulietta M. Riboldi, Irene Faravelli, Takaaki Kuwajima, Nicolas Delestrée, Georgia Dermentzaki, Mariangels De Planell-Saguer, Paola Rinchetti, Le Thi Hao, Christine C. Beattie, Stefania Corti, Serge Przedborski, George Z. Mentis, Francesco Lotti   +12 more
doaj   +1 more source

Redox dysregulation as a driver for DNA damage and its relationship to neurodegenerative diseases

Translational Neurodegeneration, 2023
Redox homeostasis refers to the balance between the production of reactive oxygen species (ROS) as well as reactive nitrogen species (RNS), and their elimination by antioxidants. It is linked to all important cellular activities and oxidative stress is a
Sina Shadfar, Sonam Parakh, Md Shafi Jamali, Julie D. Atkin   +3 more
doaj   +1 more source

ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation

Scientific Reports, 2023
Amyotrophic lateral sclerosis (ALS) is a severely debilitating neurodegenerative condition that is part of the same disease spectrum as frontotemporal dementia (FTD).
Audrey M. G. Ragagnin, Vinod Sundaramoorthy, Fabiha Farzana, Shashi Gautam, Sayanthooran Saravanabavan, Zeinab Takalloo, Prachi Mehta, Dzung Do-Ha, Sonam Parakh, Sina Shadfar, Julie Hunter, Marta Vidal, Cyril J. Jagaraj, Mariana Brocardo, Anna Konopka, Shu Yang, Stephanie L. Rayner, Kelly L. Williams, Ian P. Blair, Roger S. Chung, Albert Lee, Lezanne Ooi, Julie D. Atkin   +22 more
doaj   +1 more source

Sodium valproate increases activity of the sirtuin pathway resulting in beneficial effects for spinocerebellar ataxia-3 in vivo

Molecular Brain, 2021
Machado-Joseph disease (MJD, also known as spinocerebellar ataxia type 3) is a fatal neurodegenerative disease that impairs control and coordination of movement.
Maxinne Watchon, Luan Luu, Katherine J. Robinson, Kristy C. Yuan, Alana De Luca, Hannah J. Suddull, Madelaine C. Tym, Gilles J. Guillemin, Nicholas J. Cole, Garth A. Nicholson, Roger S. Chung, Albert Lee, Angela S. Laird   +12 more
doaj   +1 more source

Opinion: more mouse models and more translation needed for ALS

Molecular Neurodegeneration, 2023
Amyotrophic lateral sclerosis is a complex disorder most of which is ‘sporadic’ of unknown origin but approximately 10% is familial, arising from single mutations in any of more than 30 genes.
Elizabeth M.C. Fisher, Linda Greensmith, Andrea Malaspina, Pietro Fratta, Michael G. Hanna, Giampietro Schiavo, Adrian M. Isaacs, Richard W. Orrell, Thomas J. Cunningham, Abraham Acevedo Arozena   +9 more
doaj   +1 more source

C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9

Nature Communications, 2023
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive motor neuron loss, with additional pathophysiological involvement of non-neuronal cells such as microglia.
Björn F. Vahsen, Sumedha Nalluru, Georgia R. Morgan, Lucy Farrimond, Emily Carroll, Yinyan Xu, Kaitlyn M. L. Cramb, Benazir Amein, Jakub Scaber, Antigoni Katsikoudi, Ana Candalija, Mireia Carcolé, Ruxandra Dafinca, Adrian M. Isaacs, Richard Wade-Martins, Elizabeth Gray, Martin R. Turner, Sally A. Cowley, Kevin Talbot   +18 more
doaj   +1 more source

Flow cytometry allows rapid detection of protein aggregates in cellular and zebrafish models of spinocerebellar ataxia 3

Disease Models & Mechanisms, 2021
Spinocerebellar ataxia 3 (SCA3, also known as Machado–Joseph disease) is a neurodegenerative disease caused by inheritance of a CAG repeat expansion within the ATXN3 gene, resulting in polyglutamine (polyQ) repeat expansion within the ataxin-3 protein ...
Katherine J. Robinson, Madelaine C. Tym, Alison Hogan, Maxinne Watchon, Kristy C. Yuan, Stuart K. Plenderleith, Emily K. Don, Angela S. Laird   +7 more
doaj   +1 more source

Human iPSC co-culture model to investigate the interaction between microglia and motor neurons

Scientific Reports, 2022
Motor neuron diseases such as amyotrophic lateral sclerosis are primarily characterized by motor neuron degeneration with additional involvement of non-neuronal cells, in particular, microglia.
Björn F. Vahsen, Elizabeth Gray, Ana Candalija, Kaitlyn M. L. Cramb, Jakub Scaber, Ruxandra Dafinca, Antigoni Katsikoudi, Yinyan Xu, Lucy Farrimond, Richard Wade-Martins, William S. James, Martin R. Turner, Sally A. Cowley, Kevin Talbot   +13 more
doaj   +1 more source

Defective axonal transport in motor neuron disease [PDF]

, 2007
Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas, Blair, Boillee, Bommel, Borchelt, Bowling, Brown, Bruijn, Burger, Cao, Cleveland, Cleveland, Duchen, Escurat, Evans, Fichera, Fliegner, Gaudette, Goldstein, Hadano, Hafezparast, Hazan, Hirokawa, Hirokawa, Hirokawa, Jablonka, Joshi, Kanai, Kaplan, Kieran, King, Kong, LaMonte, Levy, Ligon, Liu, Lo Giudice, Lu, Martin, Miki, Miki, Mitsumoto, Mitsumoto, Muglia, Munch, Nicholson, Nishimura, Okabe, Otomo, Parkinson, Parysek, Pasinelli, Patel, Proukakis, Puls, Puls, Quenneville, Rao, Reid, Reid, Reid, Rosen, Ross, Rowland, Sanderson, Schmitt-John, Shaw, Shibata, Siegel, Song, Teuchert, Troy, Vallee, Weber, Williamson, Wood, Xia, Zhao   +77 more
core   +1 more source