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Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy.
Zhao X, Feng Z, Ling KK, Mollin A, Sheedy J, Yeh S, Petruska J, Narasimhan J, Dakka A, Welch EM, Karp G, Chen KS, Metzger F, Ratni H, Lotti F, Tisdale S, Naryshkin NA, Pellizzoni L, Paushkin S, Ko CP, Weetall M. Zhao X, et al. Among authors: tisdale s. Hum Mol Genet. 2016 May 15;25(10):1885-1899. doi: 10.1093/hmg/ddw062. Epub 2016 Feb 29. Hum Mol Genet. 2016. PMID: 26931466 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: tisdale s. Hum Mol Genet. 2018 Oct 1;27(19):3404-3416. doi: 10.1093/hmg/ddy251. Hum Mol Genet. 2018. PMID: 29982416 Free PMC article.
Functional characterization of SMN evolution in mouse models of SMA.
Osman EY, Bolding MR, Villalón E, Kaifer KA, Lorson ZC, Tisdale S, Hao Y, Conant GC, Pires JC, Pellizzoni L, Lorson CL. Osman EY, et al. Among authors: tisdale s. Sci Rep. 2019 Jul 1;9(1):9472. doi: 10.1038/s41598-019-45822-8. Sci Rep. 2019. PMID: 31263170 Free PMC article.
28 results