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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B. Huemer M, et al. Among authors: von kleist retzow jc. J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30. J Inherit Metab Dis. 2016. PMID: 26025547 Free PMC article.
A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations.
Möllers M, Maniura-Weber K, Kiseljakovic E, Bust M, Hayrapetyan A, Jaksch M, Helm M, Wiesner RJ, von Kleist-Retzow JC. Möllers M, et al. Nucleic Acids Res. 2005 Sep 30;33(17):5647-58. doi: 10.1093/nar/gki876. Print 2005. Nucleic Acids Res. 2005. PMID: 16199753 Free PMC article.
Liver adapts mitochondrial function to insulin resistant and diabetic states in mice.
Franko A, von Kleist-Retzow JC, Neschen S, Wu M, Schommers P, Böse M, Kunze A, Hartmann U, Sanchez-Lasheras C, Stoehr O, Huntgeburth M, Brodesser S, Irmler M, Beckers J, de Angelis MH, Paulsson M, Schubert M, Wiesner RJ. Franko A, et al. J Hepatol. 2014 Apr;60(4):816-23. doi: 10.1016/j.jhep.2013.11.020. Epub 2013 Nov 28. J Hepatol. 2014. PMID: 24291365
Complete failure of insulin-transmitted signaling, but not obesity-induced insulin resistance, impairs respiratory chain function in muscle.
Franko A, von Kleist-Retzow JC, Böse M, Sanchez-Lasheras C, Brodesser S, Krut O, Kunz WS, Wiedermann D, Hoehn M, Stöhr O, Moll L, Freude S, Krone W, Schubert M, Wiesner RJ. Franko A, et al. J Mol Med (Berl). 2012 Oct;90(10):1145-60. doi: 10.1007/s00109-012-0887-y. Epub 2012 Mar 13. J Mol Med (Berl). 2012. PMID: 22411022
Natural History of Vanishing White Matter.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group; van der Knaap MS. Hamilton EMC, et al. Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. Ann Neurol. 2018. PMID: 30014503 Free PMC article.
Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.
Jonckheere AI, Huigsloot M, Lammens M, Jansen J, van den Heuvel LP, Spiekerkoetter U, von Kleist-Retzow JC, Forkink M, Koopman WJ, Szklarczyk R, Huynen MA, Fransen JA, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Mitochondrion. 2011 Nov;11(6):954-63. doi: 10.1016/j.mito.2011.08.012. Epub 2011 Sep 14. Mitochondrion. 2011. PMID: 21945727
47 results