Results 31 to 40 of about 423,991 (315)

Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7

Molecular Therapy: Nucleic Acids, 2023
Neuromuscular junction (NMJ) dysfunction underlies several diseases, including congenital myasthenic syndromes (CMSs) and motor neuron disease (MND).
Yu-Ting Huang, Hannah R. Crick, Helena Chaytow, Dinja van der Hoorn, Abrar Alhindi, Ross A. Jones, Ralph D. Hector, Stuart R. Cobb, Thomas H. Gillingwater   +8 more
doaj   +1 more source

Inflammation in ALS and SMA: Sorting out the good from the evil

Neurobiology of Disease, 2010
Indices of neuroinflammation are found in a variety of diseases of the CNS including amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA).
Dimitra Papadimitriou, Virginia Le Verche, Arnaud Jacquier, Burcin Ikiz, Serge Przedborski, Diane B. Re   +5 more
doaj   +1 more source

SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3′-End Formation of Histone mRNAs

Cell Reports, 2013
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a deficiency in the survival motor neuron (SMN) protein. SMN mediates the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs) and possibly other RNPs.
Sarah Tisdale, Francesco Lotti, Luciano Saieva, James P. Van Meerbeke, Thomas O. Crawford, Charlotte J. Sumner, George Z. Mentis, Livio Pellizzoni   +7 more
doaj   +1 more source

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   +1 more source

TDP-43 is a ubiquitylation substrate of the SCFcyclin F complex

Neurobiology of Disease, 2022
Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by the loss of upper and lower motor neurons in the brain and spinal cord.
Stephanie L. Rayner, Shu Yang, Natalie E. Farrawell, Cyril J. Jagaraj, Flora Cheng, Jennilee M. Davidson, Luan Luu, Alberto G. Redondo, Alberto Rábano, Daniel Borrego-Hernández, Julie D. Atkin, Marco Morsch, Ian P. Blair, Justin J. Yerbury, Roger Chung, Albert Lee   +15 more
doaj   +1 more source

The Role of DNA Damage in Neural Plasticity in Physiology and Neurodegeneration

Frontiers in Cellular Neuroscience, 2022
Damage to DNA is generally considered to be a harmful process associated with aging and aging-related disorders such as neurodegenerative diseases that involve the selective death of specific groups of neurons.
Anna Konopka, Julie D. Atkin, Julie D. Atkin   +2 more
doaj   +1 more source

DNA Damage, Defective DNA Repair, and Neurodegeneration in Amyotrophic Lateral Sclerosis

Frontiers in Aging Neuroscience, 2022
DNA is under constant attack from both endogenous and exogenous sources, and when damaged, specific cellular signalling pathways respond, collectively termed the “DNA damage response.” Efficient DNA repair processes are essential for cellular viability ...
Anna Konopka, Julie D. Atkin, Julie D. Atkin   +2 more
doaj   +1 more source

Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles

Biology Open, 2013
Summary Amyotrophic Lateral Sclerosis (ALS) is a motor neuron degenerative disease characterized by a progressive, and ultimately fatal, muscle paralysis. The human VAMP-Associated Protein B (hVAPB) is the causative gene of ALS type 8.
Mario Sanhueza, Luigi Zechini, Trudy Gillespie, Giuseppa Pennetta   +3 more
doaj   +1 more source

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

FEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile, Daniela Ratto, Giorgia Rastelli, Ottavia Eleonora Ferraro, Caterina Temporini, Sunil Kumar, Simona Boncompagni, Paola Rossi, Monica Canepari   +8 more
wiley   +1 more source

Statistical analysis plan for the motor neuron disease systematic multi-arm adaptive randomised trial (MND-SMART)

Trials, 2023
Background MND-SMART is a platform, multi-arm, multi-stage, multi-centre, randomised controlled trial recruiting people with motor neuron disease.
Richard A. Parker, Christopher J. Weir, Tra My Pham, Ian R. White, Nigel Stallard, Mahesh K. B. Parmar, Robert J. Swingler, Rachel S. Dakin, Suvankar Pal, Siddharthan Chandran   +9 more
doaj   +1 more source