Results 41 to 50 of about 174,614,231 (302)

Proteomic assessment of a cell model of spinal muscular atrophy

BMC Neuroscience, 2011
Background Deletion or mutation(s) of the survival motor neuron 1 (SMN1) gene causes spinal muscular atrophy (SMA), a neuromuscular disease characterized by spinal motor neuron death and muscle paralysis. Complete loss of the SMN protein is embryonically
Lee Kelvin H, Kerr Douglas, Choe Leila, Glazewski Lisa, Whye Dosh, Wu Chia-Yen, Mason Robert W, Wang Wenlan   +7 more
doaj   +1 more source

Iron insufficiency compromises motor neurons and their mitochondrial function in Irp2-null mice. [PDF]

PLoS ONE, 2011
Genetic ablation of Iron Regulatory Protein 2 (Irp2, Ireb2), which post-transcriptionally regulates iron metabolism genes, causes a gait disorder in mice that progresses to hind-limb paralysis.
Suh Young Jeong, Daniel R Crooks, Hayden Wilson-Ollivierre, Manik C Ghosh, Rachid Sougrat, Jaekwon Lee, Sharon Cooperman, James B Mitchell, Carole Beaumont, Tracey A Rouault   +9 more
doaj   +1 more source

A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein

Scientific Reports, 2016
Spinal muscular atrophy (SMA), a leading genetic disease of children and infants, is caused by mutations or deletions of Survival Motor Neuron 1 (SMN1) gene.
Joonbae Seo, Natalia N. Singh, Eric W Ottesen, Brian M. Lee, R. Singh   +4 more
semanticscholar   +1 more source

Structural and Functional Consequences of the SMA-Linked Missense Mutations of the Survival Motor Neuron Protein: A Brief Update

Novel Aspects on Motor Neuron Disease, 2018
Genetically linked to the survival motor neuron 1 gene SMN1 , spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with dysfunctional α -motor neurons.
Wei Li
semanticscholar   +1 more source

Neuroprotective effect of non-viral gene therapy treatment based on tetanus toxin C-fragment in a severe mouse model of Spinal Muscular Atrophy.

Frontiers in Molecular Neuroscience, 2016
Spinal muscular atrophy (SMA) is a hereditary childhood disease that causes paralysis and progressive degeneration of skeletal muscles and spinal motor neurons.
Sara Olivan Garcia, Sara Olivan Garcia, Ana Cristina Calvo, Amaya Rando, Mireia Herrando-Grabulosa, Raquel Manzano, Pilar Zaragoza, Eduardo Fidel Tizzano, Jose Aguilera, Rosario Osta   +9 more
doaj   +1 more source

Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy

Human Genetics, 2008
Autosomal recessive proximal spinal muscular atrophy (SMA) is a neurodegenerative disorder resulting from functional loss of survival motor neuron 1 (SMN1). Homozygous absence of SMN1 due to deletion or gene conversion accounts for about 96% of SMA cases.
L. Brichta, L. Garbes, M. Jędrzejowska, S. Grellscheid, Irmgard Holker, Katharina Zimmermann, B. Wirth   +6 more
semanticscholar   +1 more source

Cytoskeleton dysfunction of motor neuron in spinal muscular atrophy

Journal of Neurology
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by deletions or mutations of survival of motor neuron 1 (SMN1) gene. To date, the mechanism of selective cell death of motor neurons as a hallmark of SMA is still unclear.
Tianyu Shi, Zijie Zhou, Taiyang Xiang, Yinxuan Suo, Xiaoyan Shi, Yaoyao Li, Peng Zhang, Jun Dai, Lei Sheng   +8 more
semanticscholar   +1 more source

cDNA that encodes active agrin [PDF]

, 1992
Agrin is thought to mediate the motor neuron-induced aggregation of AChRs and AChE on the surface of muscle fibers at neuromuscular junctions. We have isolated a cDNA from a chick brain library that, based on sequence homology and expression experiments,
Kröger, Stephan, Tsim, K. W., McMahan, U. J., Ruegg, M. A., Escher, G., Tsim, Karl W. K., Ruegg, Markus A., Escher, Gérard, Tsim, Karl W.K., Kroger, S.   +9 more
core   +1 more source

Progranulin modulates zebrafish motoneuron development in vivo and rescues truncation defects associated with knockdown of Survival motor neuron 1

Molecular Neurodegeneration, 2010
BackgroundProgranulin (PGRN) encoded by the GRN gene, is a secreted glycoprotein growth factor that has been implicated in many physiological and pathophysiological processes.
Babykumari P. Chitramuthu, David C. Baranowski, D. Kay, A. Bateman, H. Bennett   +4 more
semanticscholar   +1 more source

Decreased microRNA levels lead to deleterious increases in neuronal M2 muscarinic receptors in Spinal Muscular Atrophy models

eLife, 2017
Spinal Muscular Atrophy (SMA) is caused by diminished Survival of Motor Neuron (SMN) protein, leading to neuromuscular junction (NMJ) dysfunction and spinal motor neuron (MN) loss.
Patrick J O'Hern, Inês do Carmo G. Gonçalves, Johanna Brecht, Eduardo Javier López Soto, Jonah Simon, Natalie Chapkis, Diane Lipscombe, Min Jeong Kye, Anne C Hart   +8 more
doaj   +1 more source