Results 31 to 40 of about 160,996 (342)

Neuronal-Specific Roles of the Survival Motor Neuron Protein [PDF]

Journal of Neuropathology and Experimental Neurology, 2006
Despite recent data on the cellular function of the survival motor neuron (SMN) gene, the spinal muscular atrophy (SMA) disease gene, the role of the SMN protein in motor neurons and hence in the pathogenesis of SMA is still unclear. The spatial and temporal expression of SMN in neurons, particularly during development, could help in verifying the ...
Giavazzi A., Setola V., SIMONATI, Alessandro, Battaglia G.   +3 more
openaire   +3 more sources

Central synaptopathy is the most conserved feature of motor circuit pathology across spinal muscular atrophy mouse models

iScience, 2021
Summary: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by reduced survival motor neuron (SMN) protein. Recently, SMN dysfunction has been linked to individual aspects of motor circuit pathology in a severe SMA mouse model.
Jannik M. Buettner, Josiane K. Sime Longang, Florian Gerstner, Katharina S. Apel, Beatriz Blanco-Redondo, Leonie Sowoidnich, Eva Janzen, Tobias Langenhan, Brunhilde Wirth, Christian M. Simon   +9 more
doaj   +1 more source

Progranulin is expressed within motor neurons and promotes neuronal cell survival [PDF]

BMC Neuroscience, 2009
Abstract Background Progranulin is a secreted high molecular weight growth factor bearing seven and one half copies of the cysteine-rich granulin-epithelin motif. While inappropriate over-expression of the progranulin gene has been associated with many cancers, haploinsufficiency leads to atrophy of the frontotemporal
Kay Denis G, Minotti Sandra, Durham Heather D, Cao Mingju, Li Zhi, Malik Suneil, Chitramuthu Babykumari P, Baranowski David C, Ryan Cara L, Shaw Christopher A, Bennett Hugh PJ, Bateman Andrew   +11 more
openaire   +3 more sources

Effect of the Butyrate Prodrug Pivaloyloxymethyl Butyrate (AN9) on a Mouse Model for Spinal Muscular Atrophy. [PDF]

, 2016
Spinal muscular atrophy (SMA) is an early-onset motor neuron disease that leads to loss of muscle function. Butyrate (BA)-based compounds markedly improve the survival and motor phenotype of SMA mice.
Butchbach, Matthew E.R., Edwards, Jonathan D.   +1 more
core   +2 more sources

Ca2+-activated K+ channels modulate microglia affecting motor neuron survivalin hSOD1G93A mice [PDF]

, 2018
Recent studies described a critical role for microglia in amyotrophic lateral sclerosis (ALS), where these CNS-resident immune cells participate in the establishment of an inflammatory microenvironment that contributes to motor neuron degeneration ...
Antonangeli, Fabrizio, Carbonari, Laura, Cocozza, Germana, D'Alessandro, Giuseppina, di Castro, Maria Amalia, Garofalo, Stefano, Grassi, Francesca, Grimaldi, Alfonso, Limatola, Cristina, Madonna, Michele, Mainiero, Fabrizio, Porzia, Alessandra, Santoni, Angela, Wulff, Heike   +13 more
core   +2 more sources

Letter to the editor: autoimmune pathogenic mechanisms in amyotrophic lateral sclerosis [PDF]

, 2018
The innate immune system may affect the function and survival of motor neurons in ALS by at least three mechanisms. First, there is evidence to suggest that aggregates of mutant SOD1—which is derived from microglial and astroglial cells—activate ...
de Vincentiis, M., De Virgilio, A., Gallo, A., Greco, A., Inghilleri, M., Ralli, M.   +5 more
core   +1 more source

Review: Evidence-based drug treatment in amyotrophic lateral sclerosis and upcoming clinical trials

Therapeutic Advances in Neurological Disorders, 2009
Amyotrophic lateral sclerosis/motor neuron disease is a severe neurodegenerative disease characterized by upper and lower motor neuron degeneration for which there is no truly effective treatment.
Albert C. Ludolph, Sarah Jesse
doaj   +1 more source

BMP4 is a peripherally-derived factor for motor neurons and attenuates glutamate-induced excitotoxicity in vitro. [PDF]

PLoS ONE, 2013
Bone morphogenetic proteins (BMPs), members of the transforming growth factor-beta (TGF-β) superfamily, have been shown to play important roles in the nervous system, including neuronal survival and synaptogenesis. However, the physiological functions of
Hui-Ju Chou, Dar-Ming Lai, Cheng-Wen Huang, Ian S McLennan, Horng-Dar Wang, Pei-Yu Wang   +5 more
doaj   +1 more source

Phosphatase and tensin homologue: a therapeutic target for SMA [PDF]

, 2017
Spinal muscular atrophy (SMA) is one of the most common juvenile neurodegenerative diseases, which can be associated with child mortality. SMA is caused by a mutation of ubiquitously expressed gene, Survival Motor Neuron1 (SMN1), leading to reduced SMN ...
AH Burghes, AK Bevan, AS Arnold, B Trulzsch, C Carissimi, C Simone, CJ DiDonato, CL Lorson, CR Heier, D Buhler, D Little, D Sareen, DJ Freeman, DJ Yang, E Hajduch, ER Hollis 2nd, G Battaglia, G Hamilton, H Liu, H Rindt, HL Zhang, HM Hsieh-Li, HR Fuller, I Tein, J Branchu, J Gu, J Pearn, J Peltier, J Ramser, J Yong, JC Chang, JH Chung, JH Pearn, JO Lee, JR Bach, JV McGivern, K Bilguvar, K Liu, K Ning, KD Foust, KK Park, L Cartegni, L Schnell, L Schnell, L Van Den Bosch, L Viollet, LC Trotman, M Azzouz, M Bowerman, M Bowerman, MB Lachyankar, MM Martin, N Roy, ND Mazarakis, NK Genabai, RA Powis, S Jablonka, S Lefebvre, S Lefebvre, S Majumder, S Rudnik-Schoneborn, S Shanmugarajan, S Zhang, T Baughan, TM Wishart, TW Prior, U Felderhoff-Mueser, UR Monani, V Stambolic, W Rossoll, Y Zhang, Y Zhu, ZY Cheng   +72 more
core   +1 more source

Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice

Neurobiology of Aging, 2014
Spinal muscular atrophy results from diminished levels of survival motor neuron (SMN) protein in spinal motor neurons. Low levels of SMN also occur in models of amyotrophic lateral sclerosis (ALS) caused by mutant superoxide dismutase 1 (SOD1) and genetic reduction of SMN levels exacerbates the phenotype of transgenic SOD1(G93A) mice.
Turner, B, Turner, B, Alfazema, N, Sheean, R, Sheean, R, Sleigh, J, Sleigh, J, Davies, K, Horne, M, Horne, M, Talbot, K, Talbot, K   +11 more
openaire   +6 more sources