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Research Article

Orthogonal Analysis of Dystrophin Protein and Mrna As A Surrogate Outcome for Drug Development

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Pages 1209-1225 | Received 06 Jun 2019, Accepted 16 Jul 2019, Published online: 05 Aug 2019

References

  • Hoffman EP , BrownRHJr, KunkelLM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell51(6), 919–928 (1987).
  • Aartsma-Rus A , FokkemaI, VerschuurenJet al. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum. Mutat.30(3), 293–299 (2009).
  • Mann CJ , HoneymanK, ChengAJet al. Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc. Natl Acad. Sci. USA98(1), 42–47 (2001).
  • Lu QL , MannCJ, LouFet al. Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse. Nat. Med.9(8), 1009–1014 (2003).
  • Yokota T , LuQL, PartridgeTet al. Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs. Ann. Neurol.65(6), 667–676 (2009).
  • Cirak S , Arechavala-GomezaV, GuglieriMet al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, Phase 2, dose-escalation study. Lancet378(9791), 595–605 (2011).
  • Voit T , TopalogluH, StraubVet al. Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled Phase 2 study. Lancet Neurol.13(10), 987–996 (2014).
  • Charleston JS , SchnellFJ, DworzakJet al. Eteplirsen treatment for Duchenne muscular dystrophy: exon skipping and dystrophin production. Neurology90(24), e2146–e2154 (2018).
  • Center for Drug Evaluation and research . Application number: 206488Orig1s000 – summary review (2018). www.accessdata.fda.gov/drugsatfda_docs/nda/2016/206488_summary%20review_Redacted.pdf
  • Brown KJ , MarathiR, FiorilloAAet al. Accurate quantitation of dystrophin protein in human skeletal muscle using mass spectrometry. J. Bioanal. Biomed.Suppl. 7, pii:001 (2012).
  • Anthony K , Arechavala-GomezaV, TaylorLEet al. Dystrophin quantification: biological and translational research implications. Neurology83(22), 2062–2069 (2014).
  • Taylor LE , KaminohYJ, RodeschCK, FlaniganKM. Quantification of dystrophin immunofluorescence in dystrophinopathy muscle specimens. Neuropathol. Appl. Neurobiol.38(6), 591–601 (2012).
  • Ohlendieck K , ErvastiJM, SnookJB, CampbellKP. Dystrophin-glycoprotein complex is highly enriched in isolated skeletal muscle sarcolemma. J. Cell Biol.112(1), 135–148 (1991).
  • Le Bihan MC , Barrio-HernandezI, MortensenTPet al. Cellular proteome dynamics during differentiation of human primary myoblasts. J. Proteome Res.14(8), 3348–3361 (2015).
  • Hoffman EP , ArahataK, MinettiC, BonillaE, RowlandLP. Dystrophinopathy in isolated cases of myopathy in females. Neurology42(5), 967–975 (1992).
  • Pegoraro E , SchimkeRN, GarciaCet al. Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei. Neurology45(4), 677–690 (1995).
  • Watanabe N , NagataT, SatouYet al. NS-065/NCNP-01: an antisense oligonucleotide for potential treatment of exon 53 skipping in Duchenne muscular dystrophy. Mol. Ther. Nucleic Acids13, 442–449 (2018).
  • Beekman C , JansonAA, BaghatA, Van DeutekomJC, DatsonNA. Use of capillary western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy. PLoS ONE13(4), e0195850 (2018).
  • Melo D , MaruyamaR, YokotaT. Systemic injection of peptide-PMOs into humanized DMD mice and evaluation by RT-PCR and ELISA. Methods Mol. Biol.1828, 263–273 (2018).
  • Hulsker M , VerhaartI, Van VlietL, Aartsma-RusA, Van PuttenM. Accurate dystrophin quantification in mouse tissue; identification of new and evaluation of existing methods. J. Neuromuscul. Dis.3(1), 77–90 (2016).
  • Gygi SP , RochonY, FranzaBR, AebersoldR. Correlation between protein and mRNA abundance in yeast. Mol. Cell. Biol.19(3), 1720–1730 (1999).
  • Spitali P , HeemskerkH, VossenRHet al. Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne muscular dystrophy. Lab. Invest.90(9), 1396–1402 (2010).