Publikace 2006 - 2014

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.
Vondráčková A, Veselá K, Kratochvílová H, Kučerová Vidrová V, Vinšová K, Stránecký V, Honzík T, Hansíková H, Zeman J, Tesařová M. Eur J Hum Genet. 2014 Mar;22(3):431-4. (Abstrakt)

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.
Liskova P, Ulmanova O, Tesina P, Melsova H, Diblik P, Hansikova H, Tesarova M, Votruba M. Acta Ophthalmol. 2013 May;91(3):e225-31. (Abstrakt)

Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.
Kubinova K, Tesarova M, Hansikova H, Vesela K, Kuzel D, Mara M. J Obstet Gynaecol Res. 2013 Jan;39(1):410-4. (Abstrakt)

Novel mutations in the TAZ gene in patients with Barth syndrome.
Mazurová S, Tesařová M, Magner M, Houšťková H, Hansíková H, Augustínová J, Tomek V, Vondráčková A, Zeman J, Honzík T. Prague Med Rep. 2013;114(3):139-53. (Abstrakt)

Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.
Honzik T, Tesarova M, Vinsova K, Hansikova H, Magner M, Kratochvilova H, Zamecnik J, Zeman J, Jesina P. Mol Genet Metab. 2013 Jan;108(1):102-5. (Abstrakt)

Hypertrophic Cardiomyopathy Due to the Mitochondrial DNA Mutation m.3303C>T Diagnosed in an Adult Male.
Palecek T, Tesarova M, Kuchynka P, Dytrych V, Elleder M, Hulkova H, Hansikova H, Honzik T, Zeman J, Linhart A. Int Heart J. 2012;53(6):383-7. (Abstrakt)

RFT1-CDG in adult siblings with novel mutations.
Ondruskova N, Vesela K, Hansikova H, Magner M, Zeman J, Honzik T. Mol Genet Metab. 2012 Dec;107(4):760-2. (Abstrakt)

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.
Honzík T, Magner M, Krijt J, Sokolová J, Vugrek O, Belužić R, Barić I, Hansíkova H, Elleder M, Veselá K, Bauerová L, Ondrušková N, Ješina P, Zeman J, Kožich V. Mol Genet Metab. 2012 Nov;107(3):611-3. (Abstrakt)

Warburg effect manifestation in aggressive pheochromocytomas and paragangliomas: insights from a mouse cell model applied to human tumor tissue.
Fliedner SM, Kaludercic N, Jiang XS, Hansikova H, Hajkova Z, Sladkova J, Limpuangthip A, Backlund PS, Wesley R, Martiniova L, Jochmanova I, Lendvai NK, Breza J, Yergey AL, Paolocci N, Tischler AS, Zeman J, Porter FD, Lehnert H, Pacak K. PLoS One. 2012;7(7):e40949. (Abstrakt)

Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency.
Szentiványi K, Hansíková H, Krijt J, Vinšová K, Tesařová M, Rozsypalová E, Klement P, Zeman J, Honzík T. Prague Med Rep. 2012;113(2):136-46. (Abstrakt)

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.
Vondrackova A, Vesela K, Hansikova H, Docekalova DZ, Rozsypalova E, Zeman J, Tesarova M. J Hum Genet. 2012 Jul;57(7):442-8. (Abstrakt)

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H. J Med Genet. 2012 Apr;49(4):277-83. (Abstrakt)

YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation.
Stiburek L, Cesnekova J, Kostkova O, Fornuskova D, Vinsova K, Wenchich L, Houstek J, Zeman J. Mol Biol Cell. 2012 Mar;23(6):1010-23. (Abstrakt)

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J. J Inherit Metab Dis. 2012 Sep;35(5):749-59. (Abstrakt)

Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).
Young RD, Liskova P, Pinali C, Palka BP, Palos M, Jirsova K, Hrdlickova E, Tesarova M, Elleder M, Zeman J, Meek KM, Knupp C, Quantock AJ. Invest Ophthalmol Vis Sci. 2011 Aug 24;52(9):6720-8. (Abstrakt)

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rötig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P, Prokisch H. J Med Genet. 2012 Feb;49(2):83-9. (Abstrakt)

Placental tissue as model for pilot study focused on RNA analysis from human foetal tissue.
Hůlková M, Zeman J. Prague Med Rep. 2011;112(2):93-101. (Abstrakt)

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.
Magner M, Vinšová K, Tesařová M, Hájková Z, Hansíková H, Wenchich L, Ješina P, Smolka V, Adam T, Vaněčková M, Zeman J, Honzík T. Prague Med Rep. 2011;112(1):18-28. (Abstrakt)

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.
Guillard M, Wada Y, Hansikova H, Yuasa I, Vesela K, Ondruskova N, Kadoya M, Janssen A, Van den Heuvel LP, Morava E, Zeman J, Wevers RA, Lefeber DJ. J Inherit Metab Dis. 2011 Aug;34(4):901-6. (Abstrakt)

Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.
Magner M, Szentiványi K, Svandová I, Ješina P, Tesařová M, Honzík T, Zeman J. Eur J Paediatr Neurol. 2011 Mar;15(2):101-8.(Abstrakt)

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. Biochim Biophys Acta. 2011 Jan;1807(1):144-9.(Abstrakt)

Assembly factors and ATP-dependent proteases in cytochrome c oxidase biogenesis.
Stiburek L, Zeman J. Biochim Biophys Acta. 2010 Jun-Jul;1797(6-7):1149-58.(Abstrakt)

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, Houstěk J, Sperl W, Zeman J. Arch Dis Child 2010 May 27;428(3):363-74.(Abstrakt)

Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b.
Fornuskova D, Stiburek L, Wenchich L, Vinsova K, Hansikova H, Zeman J. Biochem J. 2010 May 27;428(3):363-74.(Abstrakt)

Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development.
Pejznochova M, Tesarova M, Hansikova H, Magner M, Honzik T, Vinsova K, Hajkova Z, Havlickova V, Zeman J. Mitochondrion. 2010 Jun;10(4):321-9. (Abstrakt)

Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I.
Vondrácková A, Tesarová M, Magner M, Docekalová D, Chrastina P, Procházkova D, Zeman J, Honzík T. Cas Lek Cesk. 2010;149(9):411-6. (Abstrakt)

Mitochondrial DNA haplogroups in the Czech population compared to other European countries.
Vidrová V, Tesarová M, Trefilova E, Honzík T, Magner M, Zeman J. Hum Biol. 2008 Dec;80(6):669-74. (Abstrakt)

A new case of ALG8 deficiency (CDG Ih).
Vesela K, Honzik T, Hansikova H, Haeuptle MA, Semberova J, Stranak Z, Hennet T, Zeman J. J Inherit Metab Dis. 2009 Aug 18. (Abstrakt)

Loss of function of Sco1 and its interaction with cytochrome c oxidase.
Stiburek L, Vesela K, Hansikova H, Hulkova H, Zeman J. Am J Physiol Cell Physiol. 2009 May;296(5):C1218-26. (Abstrakt)

TMEM70 protein - a novel ancillary factor of mammalian ATP synthase.
Houstek J, Kmoch S, Zeman J. Biochim Biophys Acta. 2009 May;1787(5):529-32. (Abstrakt)

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. Nat Genet. 2008 Nov;40(11):1288-90. (Abstrakt)

The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues.
Fornuskova D, Brantova O, Tesarova M, Stiburek L, Honzik T, Wenchich L, Tietzeova E, Hansikova H, Zeman J. Biochim Biophys Acta. 2008 May;1782 (5):317-25. (Abstrakt)

Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene.
Vesela K, Hulkova H, Hansikova H, Zeman J, Elleder M. APMIS. 2008 Jan;116(1):41-9. (Abstrakt)

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, Houstek J, Kmoch S. BMC Genomics. 2008 Jan 25;9:38. (Abstrakt)

The developmental changes in mitochondrial DNA content per cell in human cord blood leukocytes during gestation.
Pejznochová M, Tesarová M, Honzík T, Hansíková H, Magner M, Zeman J. Physiol Res. 2008;57(6):947-55. (Abstrakt)

Knockdown of human Oxa1l impairs the biogenesis of F1Fo-ATP synthase and NADH:ubiquinone oxidoreductase.
Stiburek L, Fornuskova D, Wenchich L, Pejznochova M, Hansikova H, Zeman J. J Mol Biol. 2007 Nov 23;374(2):506-16. (Abstrakt)

Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates.
Honzik T, Wenchich L, Böhm M, Hansikova H, Pejznochova M, Zapadlo M, Plavka R, Zeman J. Early Hum Dev. 2008 Apr;84(4):269-76. (Abstrakt)

Activities of respiratory chain complexes in isolated platelets in females with anorexia nervosa.
Böhm M, Papezova H, Hansikova H, Wenchich L, Zeman J. Int J Eat Disord. 2007 Nov;40(7):659-63. (Abstrakt)

Biogenesis of eukaryotic cytochrome c oxidase.
Stiburek L, Hansikova H, Tesarova M, Cerna L, Zeman J. Physiol Res. 2006;55 Suppl 2:S27-41. (Abstrakt)

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, Houstková H, Krejcík Z, Koch J, Smet J, Muss W, Holme E, Houstek J. Neuromuscul Disord. 2006 Dec;16(12):821-9. (Abstrakt)

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Honzík T, Tesarová M, Hansíková H, Krijt J, Benes P, Zámecník J, Wenchich L, Zeman J. Cas Lek Cesk. 2006;145(8):665-70. (Abstrakt)

Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations.
Maradin M, Fumić K, Hansikova H, Tesarova M, Wenchich L, Dorner S, Sarnavka V, Zeman J, Barić I. J Inherit Metab Dis. 2006 Oct;29(5):683. (Abstrakt)

Ultrastructural changes of mitochondria in the cultivated skin fibroblasts of patients with point mutations in mitochondrial DNA.
Brantová O, Tesarová M, Hansíková H, Elleder M, Zeman J, Sládková J. Ultrastruct Pathol. 2006 Jul-Aug;30(4):239-45. (Abstrakt)

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF. Brain. 2006 Jul;129(Pt 7):1674-84. (Abstrakt)

Carnitine concentrations in term and preterm newborns at birth and during the first days of life.
Honzík T, Chrastina R, Hansíková H, Böhm M, Martincová O, Plavka R, Zapadlo M, Zeman J. Prague Med Rep. 2005;106(3):297-306. (Abstrakt)

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.
Böhm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J. Pediatr Res. 2006 Jan;59(1):21-6. (Abstrakt)