Results 31 to 40 of about 131,495 (261)

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

CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity. [PDF]

, 2018
Hexanucleotide-repeat expansions in the C9ORF72 gene are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD).
A Berson, A Jovičić, AA Dominguez, Aaron D. Gitler, AC Elden, AD Gitler, AD Gitler, AD Gitler, AE Renton, AM Jablonski, Amy Li, Ana Jovičić, AS Ng, BD Freibaum, C Sidrauski, C Sidrauski, C. Kimberly Tsui, D Ron, David W. Morgens, DW Morgens, DW Morgens, E Yeger-Lotem, EM Lynes, EY Son, FB Gao, Gregor Bieri, H Koike-Yusa, HJ Kim, HJ Kim, I Kwon, IR Mackenzie, IR Mackenzie, J Couthouis, J Joung, James Ousey, JC Christianson, JG Wideman, JP Taylor, Julien Couthouis, Justin K. Ichida, K Kanekura, K Mori, K Zhang, KH Lee, KM Green, KY Shi, L Ellgaard, L Huang, LA Becker, LA Gilbert, LA Gilbert, M Armakola, M DeJesus-Hernandez, M Neumann, M Prudencio, MA Horlbeck, Marc Tessier-Lavigne, MC Jonikas, MH Schludi, MI Love, Michael C. Bassik, Michael S. Haney, NF Liachko, Nicholas J. Kramer, Nicholas T. Hertz, O Shalem, OM Peters, PE Ash, Q Zhou, R Dafinca, R Lopez-Gonzalez, R Seijffers, RJ Platt, RM Deans, Rosanna Ma, S Boeynaems, S Boeynaems, S Ju, S Konermann, S Mizielinska, S Treusch, SC Ling, SJ Zhang, T Wang, T Westergard, T Zu, TF Gendron, W Cheng, X Wen, Y Lin, Y Zhou, Yingxiao Shi, YJ Zhang, YS Davidson, Z Shevtsova, Z Sun   +95 more
core   +1 more source

Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy

Journal of Experimental Neuroscience, 2016
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with a high incidence and is the most common genetic cause of infant mortality. SMA is primarily characterized by degeneration of the spinal motor neurons that leads to skeletal
Saif Ahmad, Kanchan Bhatia, Annapoorna Kannan, Laxman Gangwani   +3 more
doaj   +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

The Many Hats of Sonic Hedgehog Signaling in Nervous System Development and Disease. [PDF]

, 2016
Sonic hedgehog (Shh) signaling occurs concurrently with the many processes that constitute nervous system development. Although Shh is mostly known for its proliferative and morphogenic action through its effects on neural stem cells and progenitors, it ...
Belgacem, Yesser H, Borodinsky, Laura N, Hamilton, Andrew M, Shim, Sangwoo, Spencer, Kira A   +4 more
core   +2 more sources

Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy [PDF]

, 2008
The role of heterotopic (migratory) motoneurons (HMN) in the pathogenesis of spinal muscular atrophy (SMA) is still controversial. We examined the occurrence and amount of HMN in spinal cord tissue from eight children with SMA (six with SMA-I and two ...
Barišić, Nina, Hof, Patrick R., Islam, Atiqul, Jovanov Milošević, Nataša, Krušlin, Božo, Lucassen, Paul J., Mladinov, Mihovil, Pajtak, Alen, Sertić, Jadranka, Šešo Šimić, Đurđica, Šimić, Goran   +10 more
core   +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

Spinal Muscular Atrophy Type IIIb Complicated by Moyamoya Syndrome: A Case Report and Literature Review

Frontiers in Cellular Neuroscience, 2022
Spinal muscular atrophy (SMA) is an inherited disorder characterized by degeneration of motor neurons and symmetrical muscle weakness and atrophy. Moyamoya syndrome (MMS) or moyamoya disease (MMD) is radiologically defined by chronic cerebrovascular ...
Jing Li, Xin Li, Liqun Wang, Guode Wu
doaj   +1 more source

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy [PDF]

, 2016
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity.
Brophy, Peter J., Gillingwater, Thomas H., Groen, Ewout J.N., Hunter, Gillian, Jones, Ross A., Lane, Fiona M., Powis, Rachael A., Sherman, Diane L., Shorrock, Hannah K., Zheng, Yinan   +9 more
core   +3 more sources

Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene. [PDF]

, 2017
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two apparently distinct neurodegenerative diseases, the former characterized by selective loss of motor neurons in the brain and spinal cord and the latter characterized by ...
Pasinelli, Piera, Trotti, Davide, Wen, Xinmei, Westergard, Thomas   +3 more
core   +2 more sources