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Page 1
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
Gurung S, Karamched S, Perocheau D, Seunarine KK, Baldwin T, Alrashidi H, Touramanidou L, Duff C, Elkhateeb N, Stepien KM, Sharma R, Morris A, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Batzios S, Davison J, Footitt E, Tuschl K, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Frassetto A, Heales S, Mills PB, Gissen P, Clayden JD, Clark CA, Eaton S, Kalber TL, Baruteau J. Gurung S, et al. Among authors: frassetto a. J Inherit Metab Dis. 2024 Nov;47(6):1213-1227. doi: 10.1002/jimd.12691. Epub 2023 Dec 4. J Inherit Metab Dis. 2024. PMID: 38044746 Free PMC article.
Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates.
Zhu X, Yin L, Theisen M, Zhuo J, Siddiqui S, Levy B, Presnyak V, Frassetto A, Milton J, Salerno T, Benenato KE, Milano J, Lynn A, Sabnis S, Burke K, Besin G, Lukacs CM, Guey LT, Finn PF, Martini PGV. Zhu X, et al. Among authors: frassetto a. Am J Hum Genet. 2019 Apr 4;104(4):625-637. doi: 10.1016/j.ajhg.2019.02.003. Epub 2019 Mar 14. Am J Hum Genet. 2019. PMID: 30879639 Free PMC article.
mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency.
Cao J, An D, Galduroz M, Zhuo J, Liang S, Eybye M, Frassetto A, Kuroda E, Funahashi A, Santana J, Mihai C, Benenato KE, Kumarasinghe ES, Sabnis S, Salerno T, Coughlan K, Miracco EJ, Levy B, Besin G, Schultz J, Lukacs C, Guey L, Finn P, Furukawa T, Giangrande PH, Saheki T, Martini PGV. Cao J, et al. Among authors: frassetto a. Mol Ther. 2019 Jul 3;27(7):1242-1251. doi: 10.1016/j.ymthe.2019.04.017. Epub 2019 Apr 23. Mol Ther. 2019. PMID: 31056400 Free PMC article.
Synthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4-/- mouse model of PFIC3.
Wei G, Cao J, Huang P, An P, Badlani D, Vaid KA, Zhao S, Wang DQ, Zhuo J, Yin L, Frassetto A, Markel A, Presnyak V, Gandham S, Hua S, Lukacs C, Finn PF, Giangrande PH, Martini PGV, Popov YV. Wei G, et al. Among authors: frassetto a. J Hepatol. 2021 Jun;74(6):1416-1428. doi: 10.1016/j.jhep.2020.12.010. Epub 2020 Dec 17. J Hepatol. 2021. PMID: 33340584 Free PMC article.
Lipid nanoparticle-mediated delivery of mRNA into the mouse and human retina and other ocular tissues.
Chambers CZ, Soo GL, Engel AL; Birth Defects Research Laboratory (BDRL); Glass IA, Frassetto A, Martini PGV, Cherry TJ. Chambers CZ, et al. Among authors: frassetto a. bioRxiv [Preprint]. 2023 Jul 13:2023.07.13.548758. doi: 10.1101/2023.07.13.548758. bioRxiv. 2023. Update in: Transl Vis Sci Technol. 2024 Jul 1;13(7):7. doi: 10.1167/tvst.13.7.7 PMID: 37502987 Free PMC article. Updated. Preprint.
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Gurung S, Timmermand OV, Perocheau D, Gil-Martinez AL, Minnion M, Touramanidou L, Fang S, Messina M, Khalil Y, Spiewak J, Barber AR, Edwards RS, Pinto PL, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Ridout D, Heywood W, Hargreaves I, Heales S, Mills PB, Waddington SN, Gissen P, Eaton S, Ryten M, Feelisch M, Frassetto A, Witney TH, Baruteau J. Gurung S, et al. Among authors: frassetto a. Sci Transl Med. 2024 Jan 10;16(729):eadh1334. doi: 10.1126/scitranslmed.adh1334. Epub 2024 Jan 10. Sci Transl Med. 2024. PMID: 38198573 Free PMC article.
Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria.
Baek R, Coughlan K, Jiang L, Liang M, Ci L, Singh H, Zhang H, Kaushal N, Rajlic IL, Van L, Dimen R, Cavedon A, Yin L, Rice L, Frassetto A, Guey L, Finn P, Martini PGV. Baek R, et al. Among authors: frassetto a. Nat Commun. 2024 May 7;15(1):3804. doi: 10.1038/s41467-024-47460-9. Nat Commun. 2024. PMID: 38714648 Free PMC article.
45 results