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
  • Dey I. and Bradbury N.A. (2017) Activation of TPA-response element present in human Lemur Tyrosine Kinase 2 (lmtk2) gene increases its expression. Biochem Biophys Rep. 12:140-150.
  • Bradbury N.A. (2016). CFTR and Cystic Fibrosis: A Need for Personalized Medicine. In: Hamilton K., Devor D. (eds) Ion Channels and Transporters of Epithelia in Health and Disease. Physiology in Health and Disease. Springer, New York, NY pp. 773-802. 10.1007/978-1-4939-3366-2_24
  • Dey I., Shah K., and Bradbury N.A. (2016) Natural Compounds as Therapeutic Agents in the Treatment Cystic Fibrosis. J Genet Syndr Gene Ther. 7(1):284.
• 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
  
  • Frederiksen SB, Holm LL, Larsen MR, Doktor TK, Andersen HS, Hastings ML, Hua Y, Krainer AR, Andresen BS. Identification of SRSF10 as a regulator of SMN2 ISS-N1. Hum Mutat. 2021 Mar;42(3):246-260. doi: 10.1002/humu.24149. Epub 2020 Dec 16. PMID: 33300159; PMCID: PMC7878440.
  • Lentz JJ, Pan B, Ponnath A, Tran CM, Nist-Lund C, Galvin A, Goldberg H, Robillard KN, Jodelka FM, Farris HE, Huang J, Chen T, Zhu H, Zhou W, Rigo F, Hastings ML, Géléoc GSG. Direct Delivery of Antisense Oligonucleotides to the Middle and Inner Ear Improves Hearing and Balance in Usher Mice. Mol Ther. 2020 Dec 2;28(12):2662-2676. doi: 10.1016/j.ymthe.2020.08.002. Epub 2020 Aug 5. PMID: 32818431; PMCID: PMC7704764.
  • Centa JL, Jodelka FM, Hinrich AJ, Johnson TB, Ochaba J, Jackson M, Duelli DM, Weimer JM, Rigo F, Hastings ML. Therapeutic efficacy of antisense oligonucleotides in mouse models of CLN3 Batten disease. Nat Med. 2020 Sep;26(9):1444-1451. doi: 10.1038/s41591-020-0986-1. Epub 2020 Jul 27. PMID: 32719489; PMCID: PMC8008709.
  • 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
  • Su X, Dautant A, Rak M, Godard F, Ezkurdia N, Bouhier M, Bietenhader M, Mueller DM, Kucharczyk R, di Rago JP, Tribouillard-Tanvier D. The pathogenic m.8993 T > G mutation in mitochondrial ATP6 gene prevents proton release from the subunit c-ring rotor of ATP synthase. Hum Mol Genet. 2021 Apr 27;30(5):381-392. doi: 10.1093/hmg/ddab043. PMID: 33600551; PMCID: PMC8098111.
  • Moya-Mendez ME, Mueller DM, Pratt M, Bonner M, Elliott C, Hunanyan A, Kucera G, Bock C, Prange L, Jasien J, Keough K, Shashi V, McDonald M, Mikati MA. Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations. Epilepsy Behav. 2021 Mar;116:107732. doi: 10.1016/j.yebeh.2020.107732. Epub 2021 Jan 23. PMID: 33493807; PMCID: PMC7940561.
  • Prange L, Pratt M, Herman K, Schiffmann R, Mueller DM, McLean M, Mendez MM, Walley N, Heinzen EL, Goldstein D, Shashi V, Hunanyan A, Pagadala V, Mikati MA. D-DEMØ, a distinct phenotype caused by ATP1A3 mutations. Neurol Genet. 2020 Aug 4;6(5):e466. doi: 10.1212/NXG.0000000000000466. PMID: 32802951; PMCID: PMC7413631.
  • Luo M, Zhou W, Patel H, Srivastava AP, Symersky J, Bonar MM, Faraldo-Gómez JD, Liao M, Mueller DM. Bedaquiline inhibits the yeast and human mitochondrial ATP synthases. Commun Biol. 2020 Aug 19;3(1):452. doi: 10.1038/s42003-020-01173-z. PMID: 32814813; PMCID: PMC7438494.
  • Kar T, Narsaria U, Basak S, Deb D, Castiglione F, Mueller DM, Srivastava AP. A candidate multi-epitope vaccine against SARS-CoV-2. Sci Rep. 2020 Jul 2;10(1):10895. doi: 10.1038/s41598-020-67749-1. PMID: 32616763; PMCID: PMC7331818.
  • 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.