Results 1 to 10 of about 174,614,231 (302)

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   +4 more sources

Effects of Survival Motor Neuron Protein on Germ Cell Development in Mouse and Human

International Journal of Molecular Sciences, 2021
Survival motor neuron (SMN) is ubiquitously expressed in many cell types and its encoding gene, survival motor neuron 1 gene (SMN1), is highly conserved in various species.
Chunghao Lu, Wei-Fang Chang
exaly   +2 more sources

A high-throughput genome-wide RNAi screen identifies modifiers of survival motor neuron protein

Cell Reports, 2021
SUMMARY Spinal muscular atrophy (SMA) is a debilitating neurological disorder marked by degeneration of spinal motor neurons and muscle atrophy. SMA results from mutations in survival motor neuron 1 (SMN1), leading to deficiency of survival motor neuron (
Eugen Buehler, Barrington Burnett, Kenneth H Fischbeck   +2 more
exaly   +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   +2 more sources

Individual C. elegans neurons display differential sensitivity to smn- 1 silencing [PDF]

Life Science Alliance
Cell specific smn-1 silencing in C. elegans caused distinct defects in morphology with pronounced neuron-specific differences in sensitivity between neurons of the same class.
Sara Savaheli, Ivan Gallotta, Pamela Santonicola, Federica Cieri, Simon Berger, Delphine Dargere, Elia Di Schiavi, Denis Dupuy   +7 more
doaj   +2 more sources

The Small-Molecule Flunarizine in Spinal Muscular Atrophy Patient Fibroblasts Impacts on the Gemin Components of the SMN Complex and TDP43, an RNA-Binding Protein Relevant to Motor Neuron Diseases

Frontiers in Molecular Biosciences, 2020
The motor neurodegenerative disease spinal muscular atrophy (SMA) is caused by alterations of the survival motor neuron 1 (SMN1) gene involved in RNA metabolism.
Delphine Sapaly, Perrine Delers, Jennifer Coridon, Badih Salman, Franck Letourneur, Florent Dumont, Suzie Lefebvre   +6 more
doaj   +2 more sources

Extracellular vesicles efficiently deliver survival motor neuron protein to cells in culture

Scientific Reports
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder caused by homozygous mutation or deletion of the survival motor neuron 1 (SMN1) gene, leading to a low quantity of SMN protein in cells.
Charlotte A. René, Robin J. Parks
doaj   +2 more sources

Targeted knockdown of Smn in muscle stem cells induces non-cell autonomous loss of motor neurons. [PDF]

Brain
Spinal muscular atrophy (SMA) is due to a deficit in SMN, a ubiquitously expressed protein encoded by the Survival of Motor Neuron 1 (SMN1) gene. Recently, SMN-targeted disease-modifying treatments have greatly improved the clinical outcomes of this ...
Mecca J, Mignot J, Gervais M, Ozturk T, Astord S, Berthier J, Bauché S, Messéant J, Biferi MG, Rouard H, Barkats M, Relaix F, Didier N.   +12 more
europepmc   +2 more sources

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