scholarly journals A Multilayered Control of the Human Survival Motor Neuron Gene Expression by Alu Elements

2017 ◽  
Vol 8 ◽  
Author(s):  
Eric W. Ottesen ◽  
Joonbae Seo ◽  
Natalia N. Singh ◽  
Ravindra N. Singh
Keyword(s):  
Gene Expression ◽  
Motor Neuron ◽  
Survival Motor Neuron ◽  
Survival Motor Neuron Gene ◽  
Alu Elements ◽  
Human Survival

scholarly journals Large-Scale Production of Adeno-Associated Viral Vector Serotype-9 Carrying the Human Survival Motor Neuron Gene

2015 ◽  
Vol 58 (1) ◽  
pp. 30-36 ◽  
Author(s):  
Afrooz Rashnonejad ◽  
Gholamhossein Amini Chermahini ◽  
Shaoyong Li ◽  
Ferda Ozkinay ◽  
Guangping Gao
Keyword(s):  
Motor Neuron ◽  
Large Scale ◽  
Viral Vector ◽  
Survival Motor Neuron ◽  
Scale Production ◽  
Survival Motor Neuron Gene ◽  
Human Survival ◽  
Large Scale Production

Fugu rubripes and human survival motor neuron genes: Structural and functional similarities in comparative genome studies

Gene ◽  
2008 ◽  
Vol 424 (1-2) ◽  
pp. 108-114 ◽  
Author(s):  
Paramasivam Kathirvel ◽  
Wei-Ping Yu ◽  
Byrappa Venkatesh ◽  
Chui-Chin Lim ◽  
Poh-San Lai ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Survival Motor Neuron ◽  
Fugu Rubripes ◽  
Comparative Genome ◽  
Human Survival

G.P.96 The point mutations spectrum of survival motor neuron gene 1 (SMN1) in Polish SMA patients lacking a homozygous SMN1 deletion

2012 ◽  
Vol 22 (9-10) ◽  
pp. 871
Author(s):  
M. Jedrzejowska ◽  
M. Gos ◽  
J. Zimowski ◽  
A. Kostera-Pruszczyk ◽  
B. Ryniewicz ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Point Mutations ◽  
Survival Motor Neuron ◽  
Survival Motor Neuron Gene

scholarly journals Deletion of Murine SMN Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy

2001 ◽  
Vol 152 (5) ◽  
pp. 1107-1114 ◽  
Author(s):  
Carmen Cifuentes-Diaz ◽  
Tony Frugier ◽  
Francesco D. Tiziano ◽  
Emmanuelle Lacène ◽  
Natacha Roblot ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Motor Neuron ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Creatine Kinase Activity ◽  
Survival Motor Neuron ◽  
Mutant Mice ◽  
Blue Dye ◽  
Muscle Paralysis ◽  
Survival Motor Neuron Gene

Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons of the spinal cord associated with muscle paralysis and caused by mutations of the survival motor neuron gene (SMN). To determine whether SMN gene defect in skeletal muscle might have a role in SMA pathogenesis, deletion of murine SMN exon 7, the most frequent mutation found in SMA, has been restricted to skeletal muscle by using the Cre-loxP system. Mutant mice display ongoing muscle necrosis with a dystrophic phenotype leading to muscle paralysis and death. The dystrophic phenotype is associated with elevated levels of creatine kinase activity, Evans blue dye uptake into muscle fibers, reduced amount of dystrophin and upregulation of utrophin expression suggesting a destabilization of the sarcolemma components. The mutant mice will be a valuable model for elucidating the underlying mechanism. Moreover, our results suggest a primary involvement of skeletal muscle in human SMA, which may contribute to motor defect in addition to muscle denervation caused by the motor neuron degeneration. These data may have important implications for the development of therapeutic strategies in SMA.

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