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Peptide-conjugated phosphodiamidate oligomer-mediated exon skipping has benefits for cardiac function in mdx and Cmah-/-mdx mouse models of Duchenne muscular dystrophy.
Blain AM, Greally E, McClorey G, Manzano R, Betts CA, Godfrey C, O'Donovan L, Coursindel T, Gait MJ, Wood MJ, MacGowan GA, Straub VW. Blain AM, et al. Among authors: manzano r. PLoS One. 2018 Jun 18;13(6):e0198897. doi: 10.1371/journal.pone.0198897. eCollection 2018. PLoS One. 2018. PMID: 29912990 Free PMC article.
Cmah-dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment.
Betts CA, McClorey G, Healicon R, Hammond SM, Manzano R, Muses S, Ball V, Godfrey C, Merritt TM, van Westering T, O'Donovan L, Wells KE, Gait MJ, Wells DJ, Tyler D, Wood MJ. Betts CA, et al. Among authors: manzano r. Hum Mol Genet. 2019 Feb 1;28(3):396-406. doi: 10.1093/hmg/ddy346. Hum Mol Genet. 2019. PMID: 30281092 Free PMC article.
Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity.
Lim WF, Forouhan M, Roberts TC, Dabney J, Ellerington R, Speciale AA, Manzano R, Lieto M, Sangha G, Banerjee S, Conceição M, Cravo L, Biscans A, Roux L, Pourshafie N, Grunseich C, Duguez S, Khvorova A, Pennuto M, Cortes CJ, La Spada AR, Fischbeck KH, Wood MJA, Rinaldi C. Lim WF, et al. Among authors: manzano r. Sci Adv. 2021 Aug 20;7(34):eabi6896. doi: 10.1126/sciadv.abi6896. Print 2021 Aug. Sci Adv. 2021. PMID: 34417184 Free PMC article.
AR cooperates with SMAD4 to maintain skeletal muscle homeostasis.
Forouhan M, Lim WF, Zanetti-Domingues LC, Tynan CJ, Roberts TC, Malik B, Manzano R, Speciale AA, Ellerington R, Garcia-Guerra A, Fratta P, Sorarú G, Greensmith L, Pennuto M, Wood MJA, Rinaldi C. Forouhan M, et al. Among authors: manzano r. Acta Neuropathol. 2022 Jun;143(6):713-731. doi: 10.1007/s00401-022-02428-1. Epub 2022 May 6. Acta Neuropathol. 2022. PMID: 35522298 Free PMC article.
C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia.
Aoki Y, Manzano R, Lee Y, Dafinca R, Aoki M, Douglas AGL, Varela MA, Sathyaprakash C, Scaber J, Barbagallo P, Vader P, Mäger I, Ezzat K, Turner MR, Ito N, Gasco S, Ohbayashi N, El Andaloussi S, Takeda S, Fukuda M, Talbot K, Wood MJA. Aoki Y, et al. Among authors: manzano r. Brain. 2017 Apr 1;140(4):887-897. doi: 10.1093/brain/awx024. Brain. 2017. PMID: 28334866
140 results