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Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
Forny P, Schumann A, Mustedanagic M, Mathis D, Wulf MA, Nägele N, Langhans CD, Zhakupova A, Heeren J, Scheja L, Fingerhut R, Peters HL, Hornemann T, Thony B, Kölker S, Burda P, Froese DS, Devuyst O, Baumgartner MR. Forny P, et al. Among authors: thony b. J Biol Chem. 2016 Sep 23;291(39):20563-73. doi: 10.1074/jbc.M116.747717. Epub 2016 Aug 12. J Biol Chem. 2016. PMID: 27519416 Free PMC article.
Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.
Korner G, Noain D, Ying M, Hole M, Flydal MI, Scherer T, Allegri G, Rassi A, Fingerhut R, Becu-Villalobos D, Pillai S, Wueest S, Konrad D, Lauber-Biason A, Baumann CR, Bindoff LA, Martinez A, Thöny B. Korner G, et al. Among authors: thony b. Brain. 2015 Oct;138(Pt 10):2948-63. doi: 10.1093/brain/awv224. Epub 2015 Aug 14. Brain. 2015. PMID: 26276013 Free 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: thony b. 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: thony b. 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.
A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency.
Srinivasan RC, Zabulica M, Hammarstedt C, Wu T, Gramignoli R, Kannisto K, Ellis E, Karadagi A, Fingerhut R, Allegri G, Rüfenacht V, Thöny B, Häberle J, Nuoffer JM, Strom SC. Srinivasan RC, et al. Among authors: thony b. J Inherit Metab Dis. 2019 Nov;42(6):1054-1063. doi: 10.1002/jimd.12067. Epub 2019 Apr 2. J Inherit Metab Dis. 2019. PMID: 30843237 Free article.
181 results