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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: peters hl. 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.
Gene induction for the treatment of methylmalonic aciduria.
Hu R, Buck NE, Khaniani MS, Wood L, Wardan H, Benoist JF, Li L, Vadolas J, Sarsero JP, Ioannou PA, Peters HL. Hu R, et al. Among authors: peters hl. J Gene Med. 2009 Apr;11(4):361-9. doi: 10.1002/jgm.1297. J Gene Med. 2009. PMID: 19199343
Mouse models for methylmalonic aciduria.
Peters HL, Pitt JJ, Wood LR, Hamilton NJ, Sarsero JP, Buck NE. Peters HL, et al. PLoS One. 2012;7(7):e40609. doi: 10.1371/journal.pone.0040609. Epub 2012 Jul 9. PLoS One. 2012. PMID: 22792386 Free PMC article.
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
Huemer M, Bürer C, Ješina P, Kožich V, Landolt MA, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla AS, Noss J, Parini R, Peters H, Plecko B, Ramos FJ, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner MR. Huemer M, et al. J Inherit Metab Dis. 2015 Sep;38(5):957-67. doi: 10.1007/s10545-014-9803-7. Epub 2014 Dec 20. J Inherit Metab Dis. 2015. PMID: 25526710 Free article.
62 results