Complete nucleotide sequence, genomic organization, and promoter analysis of the murine survival motor neuron gene (Smn)

1999 ◽  
Vol 10 (6) ◽  
pp. 638-641 ◽  
Author(s):  
Christine J. DiDonato ◽  
Thierry Brun ◽  
Louise R. Simard
Keyword(s):  
Nucleotide Sequence ◽  
Motor Neuron ◽  
Complete Nucleotide Sequence ◽  
Promoter Analysis ◽  
Genomic Organization ◽  
Survival Motor Neuron ◽  
Survival Motor Neuron Gene

Genomic Organization and Complete Nucleotide Sequence of the HumanPWP2Gene on Chromosome 21

Genomics ◽  
1997 ◽  
Vol 42 (3) ◽  
pp. 528-531 ◽  
Author(s):  
Kentaro Nagamine ◽  
Jun Kudoh ◽  
Shinsei Minoshima ◽  
Kazuhiko Kawasaki ◽  
Shuichi Asakawa ◽  
...  
Keyword(s):  
Nucleotide Sequence ◽  
Complete Nucleotide Sequence ◽  
Genomic Organization ◽  
Chromosome 21

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.

Lentivirus genomic organization: The complete nucleotide sequence of the env gene region of equine infectious anemia virus

Virology ◽  
1986 ◽  
Vol 155 (2) ◽  
pp. 309-321 ◽  
Author(s):  
Keith Rushlow ◽  
Ken Olsen ◽  
Gary Stiegler ◽  
Susan L. Payne ◽  
Ronald C. Montelaro ◽  
...  
Keyword(s):  
Nucleotide Sequence ◽  
Complete Nucleotide Sequence ◽  
Equine Infectious Anemia Virus ◽  
Genomic Organization ◽  
Gene Region ◽  
Equine Infectious Anemia ◽  
Anemia Virus

Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease

Neurology ◽  
1998 ◽  
Vol 51 (3) ◽  
pp. 873-875 ◽  
Author(s):  
J. Vajsar ◽  
T. Balslev ◽  
P. N. Ray ◽  
J. Siegel-Bartelt ◽  
V. Jay
Keyword(s):  
Motor Neuron ◽  
Gene Deletion ◽  
Survival Motor Neuron ◽  
Cytoplasmic Body ◽  
Survival Motor Neuron Gene ◽  
Werdnig Hoffmann
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