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Genetic Diseases

Alzheimer's

  • Michelle L. Hastings
    • Chang J.L., Hinrich A.J., Roman B., Norrbom M., Rigo F., Marr R.A., Norstrom E.M., Hastings M.L.  Targeting Amyloid-β Precursor Protein, APP, Splicing with Antisense Oligonucleotides Reduces Toxic Amyloid-β Production.  Mol Ther. 2018 Jun 6;26(6):1539-1551. doi: 10.1016/j.ymthe.2018.02.029. Epub 2018 Mar 6. (PubMed)
    • Hinrich, A.J., Jodelka, F.M., Chang, J.L., Brutman, D., Bruno, A.M., Briggs, C.A., James, B.D., Stutzmann, G.E., Bennett, D.A., Miller, S.A., Rigo, F., Marr, R.A., and Hastings, M.L. (2016) Therapeutic correction of ApoER2 splicing in Alzheimer’s disease mice using antisense oligonucleotides. EMBO Mol. Med. 8: 328-345. PMID: 26902204). *News and Views: Wasser, C.R. & Herz J. (2016) Splicing therapeutics for Alzheimer’s disease. EMBO Mol. Med. 8: 308-310 (PMID: 26902203).

Rare/Orphan Diseases

  • Neil Bradbury
  • Robert J. Bridges
    • Michaels W.E., Bridges R.J., Hastings M.L. (2020) Antisense oligonucleotide-mediated correction of CFTR splicing improves chloride secretion in cystic fibrosis patient-derived bronchial epithelial cells. Nucleic Acids Research, 2020 1–14 doi: 10.1093/nar/gkaa490
    • Clancy J.P., Cotton C.U., Donaldson S.H., Solomon G.M., VanDevanter D.R., Boyle M.P., Gentzsch M., Nick J.A., Illek B., Wallenburg J.C., Sorscher E.J., Amaral M.D., Beekman J.M., Naren A.P., Bridges R.J., Thomas P.J., Cutting G., Rowe S., Durmowicz A.G., Mense M., Boeck K.D., Skach W., et al. (2018) CFTR modulator theratyping: Current status, gaps and future directions. J Cyst Fibros. Jun 19. pii: S1569-1993(18)30585-X. [Epub ahead of print] Review.
    • Robert J. Bridges and Neil A. Bradbury. Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator and Drugs: Insights from Cellular Trafficking. Handbook Exp Pharmacol. 245:385-425, January 2018.
    • Zeng M., Szymczak M., Ahuja M., Zheng C., Yin H., Swaim W., Chiorini J.A., Bridges R.J., and Muallem S. (2017) Restoration of CFTR Activity in Ducts Rescues Acinar Cell Function and Reduces Inflammation in Pancreatic and Salivary Glands of Mice. Gastroenterology. 153:1148-1159.
    • Xue X., Mutyam V., Thakerar A., Mobley J., Bridges R.J., Rowe S.M., Keeling K.M., and Bedwell D.M. (2017) Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences. Hum Mol Genet. 26:3116-3129.
  • Michelle L. Hastings
    • Michaels W.E., Bridges R.J., Hastings M.L. (2020) Antisense oligonucleotide-mediated correction of CFTR splicing improves chloride secretion in cystic fibrosis patient-derived bronchial epithelial cells. Nucleic Acids Research, 2020 1–14 doi: 10.1093/nar/gkaa490
    • Abilash Ponnath, Frederic F. Depreux, Francine M. Jodelka, Frank Rigo, Hamilton Farris, Michelle L. Hastings, Jennifer J. Lentz. Rescue of outer hair cells with antisense oligonucleotides in Usher mice is dependent on age of treatment. J. Assoc. Res. Otolaryngol. doi: 10.1007/s10162-017-0640, February, 2018.
    • Tia N. Donaldson, Kelsey T. Jennings, Lucia A. Cherep, Adam M. McNeela, Frederic F. Depreux, Francine M. Jodelka, Michelle L. Hastings, Douglas G. Wallace. Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice. Behav. Brain Res. 338: 76-87. PMID: 29037661, February, 2018.
    • Vijayakumar, S., Depreux, F., Jodelka, F.M., Lentz, J.J., Rigo, F., Jones, T.A., Hastings, M.L. (2017) Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide. Hum. Mol. Genet. 1093/hmg/ddx234. PMID: 28633508.
    • Pan, B., Askew, C., Galvin, A., Heman-Ackah, S., Asai, Y., Indzhykulian, A.A., Jodelka, F.M., Hastings, M.L., Lentz, J.J., Vandenberghe, L.H., Holt, J.R., and Geleoc, G.G.S. (2017) Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome, type IC. Nature Biotech. Feb. 6; nbt.3801. PMID: 28165476.
    • Geraets, R.D., Koh, S.Y., Hastings, M.L., Kielian, T., Pearce, D.A., and Weimer, J.M. (2016) Moving Towards effective therapeutic strategies for neuronal ceroid lipofuscinosis. Orphanet J Rare Dis. 11, 40-53. PMID: 27083890.
    • Depreux, F.F, Wang L., Jiang, H., Jodelka, F.M., Rosencrans R.F., Rigo, F., Lentz, J.J., Brigande, J.V., and Hastings, M.L. (2016) Antisense oligonucleotides delivered to the amniotic cavity in utero modulate gene expression in the postnatal mouse. Nucleic Acids Res. 44: 9519-9529. PMID: 27683224.*Selected Breakthrough article. *Featured on WBEZ Chicago radio: “Chicago Researchers Make Significant Finding in Treating Genetic Defects In Utero.
    • Havens, M.A., and Hastings, M.L. (2016) Splice-switching antisense oligonucleotides as therapeutic drugs. Nucleic Acids Res. 44: 5549-5563. PMID: 27288447.
    • Lentz, J.J., Jodelka, F.M., Hinrich, A.J., McCaffrey, K.E., Farris, H.E., Spalitta, M.J., Bazan, N.G., Duelli, D.M., Rigo, F., Hastings, M.L. (2013) Rescue of hearing and vestibular dysfunction in a mouse model of deafness. Nature Med, 19: 345-350. PMID: 23380860.
  • David M. Mueller
    • Shah K, Cheng Y, Hahn B, Bridges R, Bradbury NA, Mueller DM. Synonymous codon usage affects the expression of wild type and F508del CFTR. Journal of molecular biology. 2015; 427(6 Pt B):1464-1479.
    • Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, Mootha VK. Targeted exome sequencing of suspected mitochondrial disorders. Neurology. 2013; 80(19):1762-70.