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Temporal requirement for high SMN expression in SMA mice.
Le TT, McGovern VL, Alwine IE, Wang X, Massoni-Laporte A, Rich MM, Burghes AH. Le TT, et al. Hum Mol Genet. 2011 Sep 15;20(18):3578-91. doi: 10.1093/hmg/ddr275. Epub 2011 Jun 13. Hum Mol Genet. 2011. PMID: 21672919 Free PMC article.
A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.
Monani UR, Pastore MT, Gavrilina TO, Jablonka S, Le TT, Andreassi C, DiCocco JM, Lorson C, Androphy EJ, Sendtner M, Podell M, Burghes AH. Monani UR, et al. Among authors: le tt. J Cell Biol. 2003 Jan 6;160(1):41-52. doi: 10.1083/jcb.200208079. Epub 2003 Jan 6. J Cell Biol. 2003. PMID: 12515823 Free PMC article.
Mild SMN missense alleles are only functional in the presence of SMN2 in mammals.
Iyer CC, Corlett KM, Massoni-Laporte A, Duque SI, Madabusi N, Tisdale S, McGovern VL, Le TT, Zaworski PG, Arnold WD, Pellizzoni L, Burghes AHM. Iyer CC, et al. Among authors: le tt. Hum Mol Genet. 2018 Oct 1;27(19):3404-3416. doi: 10.1093/hmg/ddy251. Hum Mol Genet. 2018. PMID: 29982416 Free PMC article.
899 results