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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: nagy b. Hum Mol Genet. 2019 Oct 15;28(20):3339-3354. doi: 10.1093/hmg/ddz177. Hum Mol Genet. 2019. PMID: 31334547 Free PMC article.
Structure of the dihydrolipoamide succinyltransferase (E2) component of the human alpha-ketoglutarate dehydrogenase complex (hKGDHc) revealed by cryo-EM and cross-linking mass spectrometry: Implications for the overall hKGDHc structure.
Nagy B, Polak M, Ozohanics O, Zambo Z, Szabo E, Hubert A, Jordan F, Novaček J, Adam-Vizi V, Ambrus A. Nagy B, et al. Biochim Biophys Acta Gen Subj. 2021 Jun;1865(6):129889. doi: 10.1016/j.bbagen.2021.129889. Epub 2021 Mar 5. Biochim Biophys Acta Gen Subj. 2021. PMID: 33684457 Free article.
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.
Paulussen AD, Steyls A, Vanoevelen J, van Tienen FH, Krapels IP, Claes GR, Chocron S, Velter C, Tan-Sindhunata GM, Lundin C, Valenzuela I, Nagy B, Bache I, Maroun LL, Avela K, Brunner HG, Smeets HJ, Bakkers J, van den Wijngaard A. Paulussen AD, et al. Among authors: nagy b. Eur J Hum Genet. 2016 Dec;24(12):1783-1791. doi: 10.1038/ejhg.2016.91. Epub 2016 Jul 13. Eur J Hum Genet. 2016. PMID: 27406248 Free PMC article.
906 results