Results 1 to 10 of about 73,035 (126)

Haloperidol induces neuroprotection and enhances neuromuscular function in both murine and human models of spinal muscular atrophy [PDF]

Experimental and Molecular Medicine
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by Survival Motor Neuron 1 (SMN1) gene mutations, leading to reduced SMN protein levels and progressive motor neuron (MN) degeneration.
Giovanna Menduti, Raquel Perez-Gomez, Noémie Berenger-Currias, Cristina Ruatti, Jorge Espinosa-Espinosa, Camille Januel, Piotr Konieczny, Ruben Artero, Cecile Martinat, Marina Boido   +9 more
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Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model

Neurobiology of Disease, 2009
Mutations in the ubiquitously expressed survival motor neuron 1 (SMN1) and superoxide dismutase 1 (SOD1) genes are selectively lethal to motor neurons in spinal muscular atrophy (SMA) and familial amyotrophic lateral sclerosis (ALS), respectively ...
Bradley J. Turner, Nicholas J. Parkinson, Kay E. Davies, Kevin Talbot   +3 more
doaj   +3 more sources

Dual SMN inducing therapies can rescue survival and motor unit function in symptomatic ∆7SMA mice

Neurobiology of Disease, 2021
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by survival motor neuron (SMN) protein deficiency which results in motor neuron loss and muscle atrophy. SMA is caused by a mutation or deletion of the survival motor neuron 1 (
Kaitlyn M. Kray, Vicki L. McGovern, Deepti Chugh, W. David Arnold, Arthur H.M. Burghes   +4 more
doaj   +1 more source

Suppression of the necroptotic cell death pathways improves survival in Smn2B/− mice

Frontiers in Cellular Neuroscience, 2022
Spinal muscular atrophy (SMA) is a monogenic neuromuscular disease caused by low levels of the Survival Motor Neuron (SMN) protein. Motor neuron degeneration is the central hallmark of the disease.
Lucia Chehade, Lucia Chehade, Lucia Chehade, Marc-Olivier Deguise, Marc-Olivier Deguise, Marc-Olivier Deguise, Marc-Olivier Deguise, Yves De Repentigny, Rebecca Yaworski, Ariane Beauvais, Sabrina Gagnon, Niko Hensel, Rashmi Kothary, Rashmi Kothary, Rashmi Kothary, Rashmi Kothary, Rashmi Kothary   +16 more
doaj   +1 more source

The ε-Isozyme of Protein Kinase C (PKCε) Is Impaired in ALS Motor Cortex and Its Pulse Activation by Bryostatin-1 Produces Long Term Survival in Degenerating SOD1-G93A Motor Neuron-like Cells

International Journal of Molecular Sciences, 2023
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive and ultimately fatal neurodegenerative disease, characterized by a progressive depletion of upper and lower motor neurons (MNs) in the brain and spinal cord. The aberrant regulation of several PKC-mediated signal transduction pathways in ALS has been characterized so far, describing either ...
La Cognata V., D'Amico A. G., Maugeri Grazia, Morello Giovanna Maria Alessandra, Guarnaccia M., Magri B., Aronica E., Alkon D. L., D'Agata V., Cavallaro Sebastiano   +9 more
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Fragile X mental retardation protein recognizes a G quadruplex structure within the survival motor neuron domain containing 1 mRNA 5′-UTR [PDF]

Molecular BioSystems, 2017
Abstract G quadruplex structures have been predicted by bioinformatics to form in the 5′- and 3′-untranslated regions (UTRs) of several thousand mature mRNAs and are believed to play a role in translation regulation. Elucidation of these roles has primarily been focused on the 3′-UTR, with limited focus on characterizing the G ...
Damian S McAninch, Ashley M Heinaman, Cara N Lang, Kathryn R Moss, Gary J Bassell, Mihaela Rita Mihailescu, Timothy L Evans   +6 more
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Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis [PDF]

Brain, 2011
Gene expression profiling has been used previously with spinal cord homogenates and laser capture microdissected motor neurons to determine the mechanisms involved in neurodegeneration in amyotrophic lateral sclerosis. However, while cellular and animal model work has focused on superoxide dismutase 1-related amyotrophic lateral sclerosis, the ...
Kirby, Janine, Ning, Ke, Ferraiuolo, Laura, Heath, Paul R, Ismail, Azza, Kuo, Su-Wei, Valori, Chiara F, Cox, Laura, Sharrack, Basil, Wharton, Stephen B, Ince, Paul G, Shaw, Pamela J, Azzouz, Mimoun   +12 more
openaire   +3 more sources

Human Axonal Survival of Motor Neuron (a-SMN) Protein Stimulates Axon Growth, Cell Motility, C-C Motif Ligand 2 (CCL2), and Insulin-like Growth Factor-1 (IGF1) Production [PDF]

Journal of Biological Chemistry, 2012
Spinal muscular atrophy is a fatal genetic disease of motoneurons due to loss of full-length survival of motor neuron protein, the main product of the disease gene SMN1. Axonal SMN (a-SMN) is an alternatively spliced isoform of SMN1, generated by retention of intron 3.
Locatelli, Denise, Terao, Mineko, Fratelli, Maddalena, Zanetti, Adriana, Kurosaki, Mami, Lupi, Monica, Barzago, Maria Monica, Uggetti, Andrea, Capra, Silvia, D'Errico, Paolo, Battaglia, Giorgio S., Garattini, Enrico   +11 more
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Intracellular pathways involved in cell survival are deregulated in mouse and human spinal muscular atrophy motoneurons

Neurobiology of Disease, 2021
Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder caused by loss of the Survival Motor Neuron 1 gene (SMN1). Due to this depletion of the survival motor neuron (SMN) protein, the disease is characterized by the degeneration of spinal cord ...
Alba Sansa, Sandra de la Fuente, Joan X. Comella, Ana Garcera, Rosa M. Soler   +4 more
doaj   +1 more source

The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein

Molecular Biology of the Cell, 2013
Spinal muscular atrophy is an inherited motor neuron disease that results from a deficiency of the survival of motor neuron (SMN) protein. SMN is ubiquitinated and degraded through the ubiquitin proteasome system (UPS). We have previously shown that proteasome inhibition increases SMN protein levels, improves motor function, and reduces spinal cord ...
Kwon, Deborah Y., Dimitriadi, Maria, Terzic, Barbara, Cable, Casey, Hart, Anne C., Chitnis, Ajay, Fischbeck, Kenneth H., Burnett, Barrington G.   +7 more
openaire   +2 more sources