Results 1 to 10 of about 130,299 (263)

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, Hannah K Shorrock, Ewout J N Groen, Roderick N Carter, Rachael A Powis, Sophie R Thomson, Derek Thomson, Laura C Graham, Anna A L Motyl, Thomas M Wishart, J Robin Highley, Nicholas M Morton, Thomas Becker, Catherina G Becker, Paul R Heath, Thomas H Gillingwater   +16 more
doaj   +7 more sources

Pharmacokinetics of therapies approved for spinal muscular atrophy: A narrative review of current evidence [PDF]

Journal of International Medical Research
Spinal muscular atrophy is a severe neuromuscular disorder caused by mutations in the survival motor neuron 1 gene, leading to progressive motor neuron degeneration.
Eda Kübra Sel, Elvira Meni Maria Gkrinia, Rossana Roncato, Dinko Vitezić, Slobodan Janković, Andrej Belančić,   +6 more
doaj   +2 more sources

Microglial HVCN1 Deficiency Improves Movement and Survival of SOD1G93A ALS Mice by Enhancing Microglial Migration and Neuroprotection [PDF]

Advanced Science
Amyotrophic lateral sclerosis (ALS) is an incurable motor neuron disease characterized by progressive loss of motor neurons. Current clinically available drugs targeting neurons show minor survival extension and no motor improvement in ALS patients. This
Fan Wang, Ke‐Yu Zhang, Lang‐Jian Zhu, Wei‐Jue Li, Yang Wu, Xiang Gao, Xiao‐Ru Ma, Xiu‐Hua Yin, Jian‐Bin Wu, Xiao‐Kang Ye, Zhao‐Jun Dong, Di‐Xian Wang, Zhe Zhou, Shao‐Dong Wang, Lei Han, Zhi‐Nong Jiang, Jing‐Wei Zhao   +16 more
doaj   +2 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
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
openaire   +2 more sources

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

Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy

BMC Biology, 2020
Background Understanding the genetic modifiers of neurodegenerative diseases can provide insight into the mechanisms underlying these disorders. Here, we examine the relationship between the motor neuron disease spinal muscular atrophy (SMA), which is ...
Melissa B. Walsh, Eva Janzen, Emily Wingrove, Seyyedmohsen Hosseinibarkooie, Natalia Rodriguez Muela, Lance Davidow, Maria Dimitriadi, Erika M. Norabuena, Lee L. Rubin, Brunhilde Wirth, Anne C. Hart   +10 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