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Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.
Naryshkin NA, Weetall M, Dakka A, Narasimhan J, Zhao X, Feng Z, Ling KK, Karp GM, Qi H, Woll MG, Chen G, Zhang N, Gabbeta V, Vazirani P, Bhattacharyya A, Furia B, Risher N, Sheedy J, Kong R, Ma J, Turpoff A, Lee CS, Zhang X, Moon YC, Trifillis P, Welch EM, Colacino JM, Babiak J, Almstead NG, Peltz SW, Eng LA, Chen KS, Mull JL, Lynes MS, Rubin LL, Fontoura P, Santarelli L, Haehnke D, McCarthy KD, Schmucki R, Ebeling M, Sivaramakrishnan M, Ko CP, Paushkin SV, Ratni H, Gerlach I, Ghosh A, Metzger F. Naryshkin NA, et al. Among authors: vazirani p. Science. 2014 Aug 8;345(6197):688-93. doi: 10.1126/science.1250127. Science. 2014. PMID: 25104390
Guanidino quinazolines and pyrimidines promote readthrough of premature termination codons in cells with native nonsense mutations.
Morrill C, Friesen WJ, Babu S, Baiazitov RY, Du W, Karloff DB, Lee CS, Moon YC, Ren H, Sierra J, Tomizawa Y, Vazirani P, Welch EM, Xue X, Zhuo J. Morrill C, et al. Among authors: vazirani p. Bioorg Med Chem Lett. 2022 Nov 15;76:128989. doi: 10.1016/j.bmcl.2022.128989. Epub 2022 Sep 20. Bioorg Med Chem Lett. 2022. PMID: 36150638
The minor gentamicin complex component, X2, is a potent premature stop codon readthrough molecule with therapeutic potential.
Friesen WJ, Johnson B, Sierra J, Zhuo J, Vazirani P, Xue X, Tomizawa Y, Baiazitov R, Morrill C, Ren H, Babu S, Moon YC, Branstrom A, Mollin A, Hedrick J, Sheedy J, Elfring G, Weetall M, Colacino JM, Welch EM, Peltz SW. Friesen WJ, et al. Among authors: vazirani p. PLoS One. 2018 Oct 25;13(10):e0206158. doi: 10.1371/journal.pone.0206158. eCollection 2018. PLoS One. 2018. PMID: 30359426 Free PMC article.
Specific Correction of Alternative Survival Motor Neuron 2 Splicing by Small Molecules: Discovery of a Potential Novel Medicine To Treat Spinal Muscular Atrophy.
Ratni H, Karp GM, Weetall M, Naryshkin NA, Paushkin SV, Chen KS, McCarthy KD, Qi H, Turpoff A, Woll MG, Zhang X, Zhang N, Yang T, Dakka A, Vazirani P, Zhao X, Pinard E, Green L, David-Pierson P, Tuerck D, Poirier A, Muster W, Kirchner S, Mueller L, Gerlach I, Metzger F. Ratni H, et al. Among authors: vazirani p. J Med Chem. 2016 Jul 14;59(13):6086-100. doi: 10.1021/acs.jmedchem.6b00459. Epub 2016 Jul 6. J Med Chem. 2016. PMID: 27299419