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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. 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.
Liver neoplasms in methylmalonic aciduria: An emerging complication.
Forny P, Hochuli M, Rahman Y, Deheragoda M, Weber A, Baruteau J, Grunewald S. Forny P, et al. J Inherit Metab Dis. 2019 Sep;42(5):793-802. doi: 10.1002/jimd.12143. Epub 2019 Jul 17. J Inherit Metab Dis. 2019. PMID: 31260114 Free article.
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.
Luciani A, Schumann A, Berquez M, Chen Z, Nieri D, Failli M, Debaix H, Festa BP, Tokonami N, Raimondi A, Cremonesi A, Carrella D, Forny P, Kölker S, Diomedi Camassei F, Diaz F, Moraes CT, Di Bernardo D, Baumgartner MR, Devuyst O. Luciani A, et al. Among authors: forny p. Nat Commun. 2020 Feb 20;11(1):970. doi: 10.1038/s41467-020-14729-8. Nat Commun. 2020. PMID: 32080200 Free PMC article.
Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.
Luciani A, Schumann A, Berquez M, Chen Z, Nieri D, Failli M, Debaix H, Festa BP, Tokonami N, Raimondi A, Cremonesi A, Carrella D, Forny P, Kölker S, Camassei FD, Diaz F, Moraes CT, Di Bernardo D, Baumgartner MR, Devuyst O. Luciani A, et al. Among authors: forny p. Nat Commun. 2020 Apr 1;11(1):1719. doi: 10.1038/s41467-020-15565-6. Nat Commun. 2020. PMID: 32238804 Free PMC article.
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M; E-HOD consortium. Kožich V, et al. J Inherit Metab Dis. 2021 May;44(3):677-692. doi: 10.1002/jimd.12338. Epub 2020 Dec 28. J Inherit Metab Dis. 2021. PMID: 33295057 Free PMC article.
24 results