Zeman J - Search Results

1

A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome.

Štufková H, Kolářová H, Lokvencová K, Honzík T, Zeman J, Hansíková H, Tesařová M. Štufková H, et al. Among authors: zeman j. Genes (Basel). 2022 Jul 14;13(7):1245. doi: 10.3390/genes13071245. Genes (Basel). 2022. PMID: 35886028 Free PMC article.

2

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.

Danhelovska T, Kolarova H, Zeman J, Hansikova H, Vaneckova M, Lambert L, Kucerova-Vidrova V, Berankova K, Honzik T, Tesarova M. Danhelovska T, et al. Among authors: zeman j. BMC Pediatr. 2020 Jan 29;20(1):41. doi: 10.1186/s12887-020-1912-x. BMC Pediatr. 2020. PMID: 31996177 Free PMC article.

3

Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control.

Burska D, Stiburek L, Krizova J, Vanisova M, Martinek V, Sladkova J, Zamecnik J, Honzik T, Zeman J, Hansikova H, Tesarova M. Burska D, et al. Among authors: zeman j. Biochim Biophys Acta Mol Basis Dis. 2021 Aug 1;1867(8):166147. doi: 10.1016/j.bbadis.2021.166147. Epub 2021 Apr 15. Biochim Biophys Acta Mol Basis Dis. 2021. PMID: 33865955 Free article.

4

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: zeman j. Biol Neonate. 2002;81(4):229-35. doi: 10.1159/000056753. Biol Neonate. 2002. PMID: 12011566

5

Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206.

Jesina P, Tesarová M, Fornůsková D, Vojtísková A, Pecina P, Kaplanová V, Hansíková H, Zeman J, Houstek J. Jesina P, et al. Among authors: zeman j. Biochem J. 2004 Nov 1;383(Pt. 3):561-71. doi: 10.1042/BJ20040407. Biochem J. 2004. PMID: 15265003 Free PMC article.

6

Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.

Stiburek L, Vesela K, Hansikova H, Pecina P, Tesarova M, Cerna L, Houstek J, Zeman J. Stiburek L, et al. Among authors: zeman j. Biochem J. 2005 Dec 15;392(Pt 3):625-32. doi: 10.1042/BJ20050807. Biochem J. 2005. PMID: 16083427 Free PMC article.

7

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. Brantová O, et al. Among authors: zeman j. Ultrastruct Pathol. 2006 Jul-Aug;30(4):239-45. doi: 10.1080/01913120600820112. Ultrastruct Pathol. 2006. PMID: 16971348

8

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. Vesela K, et al. Among authors: zeman j. APMIS. 2008 Jan;116(1):41-9. doi: 10.1111/j.1600-0463.2008.00772.x. APMIS. 2008. PMID: 18254779

9

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. Fornuskova D, et al. Among authors: zeman j. Biochim Biophys Acta. 2008 May;1782(5):317-25. doi: 10.1016/j.bbadis.2008.02.001. Epub 2008 Feb 15. Biochim Biophys Acta. 2008. PMID: 18319067 Free article.

10

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: zeman j. Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26. Nat Genet. 2008. PMID: 18953340

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