Results 11 to 20 of about 2,351,931 (407)

ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function

Nature Communications, 2016
The mechanism by which FUS mutations cause familial ALS remains unclear. Here, the authors use mouse transgenic models to show that a toxic gain-of-function underlies motor neuron degeneration, and that the toxicity of mutant FUS does not depend on a ...
Aarti Sharma, Alexander K. Lyashchenko, Lei Lu, Sara Ebrahimi Nasrabady, Margot Elmaleh, Monica Mendelsohn, Adriana Nemes, Juan Carlos Tapia, George Z. Mentis, Neil A. Shneider   +9 more
doaj   +2 more sources

Motor Neuron Susceptibility in ALS/FTD

Frontiers in Neuroscience, 2019
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the death of both upper and lower motor neurons (MNs) in the brain, brainstem and spinal cord.
Audrey M. G. Ragagnin, Sina Shadfar, Marta Vidal, Md Shafi Jamali, Julie D. Atkin, Julie D. Atkin   +5 more
doaj   +2 more sources

Motor neurons and the generation of spinal motor neuron diversity [PDF]

Frontiers in Cellular Neuroscience, 2014
Motor neurons (MNs) are neuronal cells located in the central nervous system (CNS) controlling a variety of downstream targets. This function infers the existence of MN subtypes matching the identity of the targets they innervate.
N. Stifani
semanticscholar   +5 more sources

Neurons other than motor neurons in motor neuron disease.

Histology and histopathology, 2017
Amyotrophic lateral sclerosis (ALS) is typically defined by a loss of motor neurons in the central nervous system. Accordingly, morphological analysis for decades considered motor neurons (in the cortex, brainstem and spinal cord) as the neuronal population selectively involved in ALS.
R. Ruffoli, F. Biagioni, C. Busceti, A. Gaglione, L. Ryskalin, S. Gambardella, A. Frati, F. Fornai   +7 more
semanticscholar   +7 more sources

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy [PDF]

PLoS Genetics, 2017
Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein.
Penelope J. Boyd, Wen-Yo Tu, H. Shorrock, E. Groen, R. Carter, Rachael A. Powis, Sophie R. Thomson, D. Thomson, Laura C. Graham, Anna A L Motyl, T. Wishart, J. Highley, N. Morton, T. Becker, C. G. Becker, P. Heath, T. Gillingwater   +16 more
semanticscholar   +7 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

Characterisation of the pathogenic effects of the in vivo expression of an ALS-linked mutation in D-amino acid oxidase: Phenotype and loss of spinal cord motor neurons [PDF]

, 2017
Amyotrophic lateral sclerosis (ALS) is the most common adult-onset neuromuscular disorder characterised by selective loss of motor neurons leading to fatal paralysis. Current therapeutic approaches are limited in their effectiveness. Substantial advances
A Gill, A Panatier, C Watson, C Zheng, Dominic J. Wells, DS Newman, EL Tudor, ET Cirulli, FJ Martinez, G Tedeschi, GM Alexander, HJ Chen, HM Kaneb, HMJ Kaneb, I Jotova, J Hegedus, J Mitchell, J Sasabe, J Sasabe, J Vincelette, Jacqueline P. Robbins, Jacqueline S. de Belleroche, JM Lincecum, JN Matthews, John C. W. Hildyard, JP Mothet, JP Taylor, Ke Liu, L-S Wu, LJ Wang, M Azzouz, M Azzouz, M Neumann, M Sasaki, ME Gurney, MJ Piesla, Nazanin Rahmani Kondori, P Paul, P Paul, Praveen Paul, PS Sharp, R Konno, R Konno, S McHanwell, S Scott, SL Almond, TG Hampton, Thomas H. Gillingwater, Y Li, Y Yang   +49 more
core   +8 more sources

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