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Structural alterations induced by ten disease-causing mutations of human dihydrolipoamide dehydrogenase analyzed by hydrogen/deuterium-exchange mass spectrometry: Implications for the structural basis of E3 deficiency.
Ambrus A, Wang J, Mizsei R, Zambo Z, Torocsik B, Jordan F, Adam-Vizi V. Ambrus A, et al. Biochim Biophys Acta. 2016 Nov;1862(11):2098-2109. doi: 10.1016/j.bbadis.2016.08.013. Epub 2016 Aug 18. Biochim Biophys Acta. 2016. PMID: 27544700 Free PMC article.
Structural alterations by five disease-causing mutations in the low-pH conformation of human dihydrolipoamide dehydrogenase (hLADH) analyzed by molecular dynamics - Implications in functional loss and modulation of reactive oxygen species generation by pathogenic hLADH forms.
Ambrus A, Mizsei R, Adam-Vizi V. Ambrus A, et al. Biochem Biophys Rep. 2015 May 7;2:50-56. doi: 10.1016/j.bbrep.2015.04.006. eCollection 2015 Jul. Biochem Biophys Rep. 2015. PMID: 29594200 Free PMC article.
Underlying molecular alterations in human dihydrolipoamide dehydrogenase deficiency revealed by structural analyses of disease-causing enzyme variants.
Szabo E, Wilk P, Nagy B, Zambo Z, Bui D, Weichsel A, Arjunan P, Torocsik B, Hubert A, Furey W, Montfort WR, Jordan F, Weiss MS, Adam-Vizi V, Ambrus A. Szabo E, et al. Among authors: adam vizi v. Hum Mol Genet. 2019 Oct 15;28(20):3339-3354. doi: 10.1093/hmg/ddz177. Hum Mol Genet. 2019. PMID: 31334547 Free PMC article.
115 results