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Page 1
Correction of a urea cycle defect after ex vivo gene editing of human hepatocytes.
Zabulica M, Srinivasan RC, Akcakaya P, Allegri G, Bestas B, Firth M, Hammarstedt C, Jakobsson T, Jakobsson T, Ellis E, Jorns C, Makris G, Scherer T, Rimann N, van Zuydam NR, Gramignoli R, Forslöw A, Engberg S, Maresca M, Rooyackers O, Thöny B, Häberle J, Rosen B, Strom SC. Zabulica M, et al. Among authors: haberle j. Mol Ther. 2021 May 5;29(5):1903-1917. doi: 10.1016/j.ymthe.2021.01.024. Epub 2021 Jan 21. Mol Ther. 2021. PMID: 33484963 Free PMC article.
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
Rüegger CM, Lindner M, Ballhausen D, Baumgartner MR, Beblo S, Das A, Gautschi M, Glahn EM, Grünert SC, Hennermann J, Hochuli M, Huemer M, Karall D, Kölker S, Lachmann RH, Lotz-Havla A, Möslinger D, Nuoffer JM, Plecko B, Rutsch F, Santer R, Spiekerkoetter U, Staufner C, Stricker T, Wijburg FA, Williams M, Burgard P, Häberle J. Rüegger CM, et al. Among authors: haberle j. J Inherit Metab Dis. 2014 Jan;37(1):21-30. doi: 10.1007/s10545-013-9624-0. Epub 2013 Jun 19. J Inherit Metab Dis. 2014. PMID: 23780642 Free PMC article.
Hepatocyte Transfection in Small Pigs After Weaning by Hydrodynamic Intraportal Injection of Naked DNA/Minicircle Vectors.
Stoller F, Schlegel A, Viecelli HM, Rüfenacht V, Cesarovic N, Viecelli C, Deplazes S, Bettschart R, Hurter K, Schmierer P, Sidler X, Kron P, Dutkowski P, Graf R, Thöny B, Häberle J. Stoller F, et al. Among authors: haberle j. Hum Gene Ther Methods. 2015 Oct;26(5):181-92. doi: 10.1089/hgtb.2014.140. Epub 2015 Sep 23. Hum Gene Ther Methods. 2015. PMID: 26398117 Free article.
Low-Dose Gene Therapy for Murine PKU Using Episomal Naked DNA Vectors Expressing PAH from Its Endogenous Liver Promoter.
Grisch-Chan HM, Schlegel A, Scherer T, Allegri G, Heidelberger R, Tsikrika P, Schmeer M, Schleef M, Harding CO, Häberle J, Thöny B. Grisch-Chan HM, et al. Among authors: haberle j. Mol Ther Nucleic Acids. 2017 Jun 16;7:339-349. doi: 10.1016/j.omtn.2017.04.013. Epub 2017 Apr 20. Mol Ther Nucleic Acids. 2017. PMID: 28624210 Free PMC article.
Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia.
Soria LR, Allegri G, Melck D, Pastore N, Annunziata P, Paris D, Polishchuk E, Nusco E, Thöny B, Motta A, Häberle J, Ballabio A, Brunetti-Pierri N. Soria LR, et al. Among authors: haberle j. Proc Natl Acad Sci U S A. 2018 Jan 9;115(2):391-396. doi: 10.1073/pnas.1714670115. Epub 2017 Dec 26. Proc Natl Acad Sci U S A. 2018. PMID: 29279371 Free PMC article.
Treatment of a metabolic liver disease by in vivo genome base editing in adult mice.
Villiger L, Grisch-Chan HM, Lindsay H, Ringnalda F, Pogliano CB, Allegri G, Fingerhut R, Häberle J, Matos J, Robinson MD, Thöny B, Schwank G. Villiger L, et al. Among authors: haberle j. Nat Med. 2018 Oct;24(10):1519-1525. doi: 10.1038/s41591-018-0209-1. Epub 2018 Oct 8. Nat Med. 2018. PMID: 30297904 Free article.
Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification.
Allegri G, Deplazes S, Rimann N, Causton B, Scherer T, Leff JW, Diez-Fernandez C, Klimovskaia A, Fingerhut R, Krijt J, Kožich V, Nuoffer JM, Grisch-Chan HM, Thöny B, Häberle J. Allegri G, et al. Among authors: haberle j. J Inherit Metab Dis. 2019 Nov;42(6):1064-1076. doi: 10.1002/jimd.12068. Epub 2019 Mar 13. J Inherit Metab Dis. 2019. PMID: 30714172 Review.
220 results