The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.
By U. Monani, M. Sendtner, D. Coovert, D. W. Parsons, C. Andreassi, T. Le, S. Jablonka, B. Schrank, Wilfred Rossol, T. Prior and 2 more. Human Molecular Genetics, 2000
759 citations recorded by the source corpus.
Subfields: Genetics, Molecular Biology, Surgery
View Paper: https://www.semanticscholar.org/paper/a2ba015310747015a2caba425a689f24b9aa0d60
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Citations in the corpus
- Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. (2002, background): “An inverse correlation between SMN2 protein level and SMA severity has been reported in humans and transgenic SMA mice (Coovert et al. 1997; Lefebvre et al. 1997; Hsieh-Li et al. 2000; Monani et al. 2000).”
- Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1 (2002, background): “Introduction of the SMN2 transgene in an Smn −/− background by genetic crosses results in viable mice that develop SMA pathology soon after birth; depending on the copy number, the SMN2 transgene reduces the severity of, or fully suppresses, the SMA phenotype, confirming the protective role o”