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Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Hartmannová H, Piherová L, Tauchmannová K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodaňová K, Stránecký V, Přistoupilová A, Barešová V, Jedličková I, Živná M, Sovová J, Hůlková H, Robins V, Vrbacký M, Pecina P, Kaplanová V, Houštěk J, Mráček T, Thibeault Y, Bleyer AJ, Kmoch S. Hartmannová H, et al. Among authors: vrbacky m. Hum Mol Genet. 2016 Sep 15;25(18):4062-4079. doi: 10.1093/hmg/ddw245. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466185
Haptoglobin is dispensable for haemoglobin uptake by Trypanosoma brucei.
Horáková E, Vrbacký M, Tesařová M, Stříbrná E, Pilný J, Vavrušková Z, Vancová M, Sobotka R, Lukeš J, Perner J. Horáková E, et al. Among authors: vrbacky m. Front Immunol. 2024 Jul 18;15:1441131. doi: 10.3389/fimmu.2024.1441131. eCollection 2024. Front Immunol. 2024. PMID: 39114668 Free PMC article.
Direct linkage of mitochondrial genome variation to risk factors for type 2 diabetes in conplastic strains.
Pravenec M, Hyakukoku M, Houstek J, Zidek V, Landa V, Mlejnek P, Miksik I, Dudová-Mothejzikova K, Pecina P, Vrbacky M, Drahota Z, Vojtiskova A, Mracek T, Kazdova L, Oliyarnyk O, Wang J, Ho C, Qi N, Sugimoto K, Kurtz T. Pravenec M, et al. Among authors: vrbacky m. Genome Res. 2007 Sep;17(9):1319-26. doi: 10.1101/gr.6548207. Epub 2007 Aug 10. Genome Res. 2007. PMID: 17693571 Free PMC article.
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
Cízková A, Stránecký V, Mayr JA, Tesarová M, Havlícková V, Paul J, Ivánek R, Kuss AW, Hansíková H, Kaplanová V, Vrbacký M, Hartmannová H, Nosková L, Honzík T, Drahota Z, Magner M, Hejzlarová K, Sperl W, Zeman J, Houstek J, Kmoch S. Cízková A, et al. Among authors: vrbacky m. Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26. Nat Genet. 2008. PMID: 18953340
Expression and processing of the TMEM70 protein.
Hejzlarová K, Tesařová M, Vrbacká-Čížková A, Vrbacký M, Hartmannová H, Kaplanová V, Nosková L, Kratochvílová H, Buzková J, Havlíčková V, Zeman J, Kmoch S, Houštěk J. Hejzlarová K, et al. Among authors: vrbacky m. Biochim Biophys Acta. 2011 Jan;1807(1):144-9. doi: 10.1016/j.bbabio.2010.10.005. Epub 2010 Oct 16. Biochim Biophys Acta. 2011. PMID: 20937241 Free article.
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