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Genetic Complementation of ATP Synthase Deficiency Due to Dysfunction of TMEM70 Assembly Factor in Rat.
Marković A, Tauchmannová K, Šimáková M, Mlejnek P, Kaplanová V, Pecina P, Pecinová A, Papoušek F, Liška F, Šilhavý J, Mikešová J, Neckář J, Houštěk J, Pravenec M, Mráček T. Marković A, et al. Among authors: tauchmannova k. Biomedicines. 2022 Jan 26;10(2):276. doi: 10.3390/biomedicines10020276. Biomedicines. 2022. PMID: 35203486 Free PMC article.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW. Alston CL, et al. Among authors: tauchmannova k. Am J Hum Genet. 2018 Oct 4;103(4):592-601. doi: 10.1016/j.ajhg.2018.08.013. Epub 2018 Sep 20. Am J Hum Genet. 2018. PMID: 30245030 Free PMC article.
TMEM70 facilitates biogenesis of mammalian ATP synthase by promoting subunit c incorporation into the rotor structure of the enzyme.
Kovalčíkova J, Vrbacký M, Pecina P, Tauchmannová K, Nůsková H, Kaplanová V, Brázdová A, Alán L, Eliáš J, Čunátová K, Kořínek V, Sedlacek R, Mráček T, Houštěk J. Kovalčíkova J, et al. Among authors: tauchmannova k. FASEB J. 2019 Dec;33(12):14103-14117. doi: 10.1096/fj.201900685RR. Epub 2019 Oct 25. FASEB J. 2019. PMID: 31652072
Selective replacement of mitochondrial DNA increases the cardioprotective effect of chronic continuous hypoxia in spontaneously hypertensive rats.
Neckář J, Svatoňová A, Weissová R, Drahota Z, Zajíčková P, Brabcová I, Kolář D, Alánová P, Vašinová J, Šilhavý J, Hlaváčková M, Tauchmannová K, Milerová M, Ošťádal B, Červenka L, Žurmanová J, Kalous M, Nováková O, Novotný J, Pravenec M, Kolář F. Neckář J, et al. Among authors: tauchmannova k. Clin Sci (Lond). 2017 May 1;131(9):865-881. doi: 10.1042/CS20170083. Epub 2017 Mar 14. Clin Sci (Lond). 2017. PMID: 28292971
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: tauchmannova k. 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