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Page 1
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: martini pgv. Nat Commun. 2024 May 7;15(1):3804. doi: 10.1038/s41467-024-47460-9. Nat Commun. 2024. PMID: 38714648 Free PMC article.
Whole-body galactose oxidation as a robust functional assay to assess the efficacy of gene-based therapies in a mouse model of Galactosemia.
Balakrishnan B, Yan X, McCue MD, Bellagamba O, Guo A, Winkler F, Thall J, Crawford L, Dimen R, Chen S, McEnaney S, Wu Y, Zimmer M, Sarkis J, Martini PGV, Finn PF, Lai K. Balakrishnan B, et al. Among authors: martini pgv. Mol Ther Methods Clin Dev. 2024 Jan 17;32(1):101191. doi: 10.1016/j.omtm.2024.101191. eCollection 2024 Mar 14. Mol Ther Methods Clin Dev. 2024. PMID: 38352271 Free PMC article.
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: martini pgv. 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.
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: martini pgv. J Inherit Metab Dis. 2023 Dec 4. doi: 10.1002/jimd.12691. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 38044746
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals.
Ter Huurne M, Parker BL, Liu NQ, Qian EL, Vivien C, Karavendzas K, Mills RJ, Saville JT, Abu-Bonsrah D, Wise AF, Hudson JE, Talbot AS, Finn PF, Martini PGV, Fuller M, Ricardo SD, Watt KI, Nicholls KM, Porrello ER, Elliott DA. Ter Huurne M, et al. Among authors: martini pgv. Am J Hum Genet. 2023 Sep 7;110(9):1600-1605. doi: 10.1016/j.ajhg.2023.07.013. Epub 2023 Aug 21. Am J Hum Genet. 2023. PMID: 37607539 Free PMC article.
Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model.
Zhao XJ, Mohsen AW, Mihalik S, Solo K, Basu S, Aliu E, Shi H, Kochersberger C, Karunanidhi A, Van't Land C, Coughlan KA, Siddiqui S, Rice LM, Hillier S, Guadagnin E, DeAntonis C, Giangrande PH, Martini PGV, Vockley J. Zhao XJ, et al. Among authors: martini pgv. Hum Mol Genet. 2023 Jul 4;32(14):2347-2356. doi: 10.1093/hmg/ddad076. Hum Mol Genet. 2023. PMID: 37162351 Free PMC article.
Amnio acid substitution at position 298 of human glucose-6 phosphatase-α significantly impacts its stability in mammalian cells.
Cao J, Markel A, Hanahoe E, Ketova T, Mihai C, Zalinger Z, Marquardt D, Amato NJ, Cheng YM, Reid DW, Dousis A, Giangrande PH, Schultz JR, Martini PGV, Finn PF. Cao J, et al. Among authors: martini pgv. Amino Acids. 2023 May;55(5):695-708. doi: 10.1007/s00726-023-03263-8. Epub 2023 Mar 21. Amino Acids. 2023. PMID: 36944899 Free PMC article.
53 results