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Deficiency of mitochondrial ATP synthase of nuclear genetic origin.
Sperl W, Jesina P, Zeman J, Mayr JA, Demeirleir L, VanCoster R, Pícková A, Hansíková H, Houst'ková H, Krejcík Z, Koch J, Smet J, Muss W, Holme E, Houstek J. Sperl W, et al. Among authors: houstek j. Neuromuscul Disord. 2006 Dec;16(12):821-9. doi: 10.1016/j.nmd.2006.08.008. Epub 2006 Oct 17. Neuromuscul Disord. 2006. PMID: 17052906
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.
Cízková A, Stránecký V, Ivánek R, Hartmannová H, Nosková L, Piherová L, Tesarová M, Hansíková H, Honzík T, Zeman J, Divina P, Potocká A, Paul J, Sperl W, Mayr JA, Seneca S, Houstĕk J, Kmoch S. Cízková A, et al. Among authors: houstek j. BMC Genomics. 2008 Jan 25;9:38. doi: 10.1186/1471-2164-9-38. BMC Genomics. 2008. PMID: 18221507 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: houstek j. Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26. Nat Genet. 2008. PMID: 18953340
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: houstek j. 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.
Mitochondrial energy metabolism in very premature neonates.
Wenchich L, Zeman J, Hansíková H, Plavka R, Sperl W, Houstek J. Wenchich L, et al. Among authors: houstek j. Biol Neonate. 2002;81(4):229-35. doi: 10.1159/000056753. Biol Neonate. 2002. PMID: 12011566
Mitochondrial diseases and genetic defects of ATP synthase.
Houstek J, Pícková A, Vojtísková A, Mrácek T, Pecina P, Jesina P. Houstek J, et al. Biochim Biophys Acta. 2006 Sep-Oct;1757(9-10):1400-5. doi: 10.1016/j.bbabio.2006.04.006. Epub 2006 Apr 19. Biochim Biophys Acta. 2006. PMID: 16730639 Free article. Review.
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
Honzík T, Tesarová M, Mayr JA, Hansíková H, Jesina P, Bodamer O, Koch J, Magner M, Freisinger P, Huemer M, Kostková O, van Coster R, Kmoch S, Houstêk J, Sperl W, Zeman J. Honzík T, et al. Among authors: houstek j. Arch Dis Child. 2010 Apr;95(4):296-301. doi: 10.1136/adc.2009.168096. Arch Dis Child. 2010. PMID: 20335238 Free article.
421 results