Search results

  1. 1.
    0555857 - FGÚ 2023 RIV CH eng J - Journal Article
    Marković, Aleksandra - Tauchmannová, Kateřina - Šimáková, Miroslava - Mlejnek, Petr - Kaplanová, Vilma - Pecina, Petr - Pecinová, Alena - Papoušek, František - Liška, František - Šilhavý, Jan - Mikešová, Jana - Neckář, Jan - Houštěk, Josef - Pravenec, Michal - Mráček, Tomáš
    Genetic Complementation of ATP Synthase Deficiency Due to Dysfunction of TMEM70 Assembly Factor in Rat.
    Biomedicines. Roč. 10, č. 2 (2022), č. článku 276. E-ISSN 2227-9059
    R&D Projects: GA ČR(CZ) GA20-25768S; GA MZd(CZ) NU21-07-00550
    Grant - others: AV ČR(CZ) AP1502
    Program: Akademická prémie - Praemium Academiae
    Institutional support: RVO:67985823
    Keywords : mitochondria disease * ATP synthase deficiency * TMEM70 factor * transgenic rescue * gene therapy
    OECD category: Biochemistry and molecular biology
    Impact factor: 4.757, year: 2021
    Method of publishing: Open access
    https://www.mdpi.com/2227-9059/10/2/276
    Permanent Link: http://hdl.handle.net/11104/0330319

               
     
     
  2. 2.
    0520774 - FGÚ 2020 RIV US eng J - Journal Article
    Kovalčíková, Jana - Vrbacký, Marek - Pecina, Petr - Tauchmannová, Kateřina - Nůsková, Hana - Kaplanová, Vilma - Brázdová, Andrea - Alán, Lukáš - Eliáš, Jan - Čunátová, Kristýna - Kořínek, Vladimír - Sedláček, Radislav - Mráček, Tomáš - Houštěk, Josef
    TMEM70 facilitates biogenesis of mammalian ATP synthase by promoting subunit c incorporation into the rotor structure of the enzyme.
    FASEB Journal. Roč. 33, č. 12 (2019), s. 14103-14117. ISSN 0892-6638. E-ISSN 1530-6860
    R&D Projects: GA ČR(CZ) GB14-36804G; GA MZd(CZ) NV16-33018A; GA MŠk(CZ) LM2015040; GA MŠk(CZ) ED1.1.00/02.0109; GA MŠk ED2.1.00/19.0395
    Institutional support: RVO:67985823 ; RVO:68378050
    Keywords : mouse knockout * mitochondria * ancillary factor * ATP5G assembly
    OECD category: Genetics and heredity (medical genetics to be 3)
    Impact factor: 4.966, year: 2019
    Method of publishing: Limited access
    https://doi.org/10.1096/fj.201900685RR
    Permanent Link: http://hdl.handle.net/11104/0305447

               
     
     
  3. 3.
    0490333 - FGÚ 2019 RIV NL eng J - Journal Article
    Pecina, Petr - Nůsková, Hana - Karbanová, Vendula - Kaplanová, Vilma - Mráček, Tomáš - Houštěk, Josef
    Role of the mitochondrial ATP synthase central stalk subunits gamma and delta in the activity and assembly of the mammalian enzyme.
    Biochimica Et Biophysica Acta-Bioenergetics. Roč. 1859, č. 5 (2018), s. 374-381. ISSN 0005-2728. E-ISSN 1879-2650
    R&D Projects: GA ČR(CZ) GB14-36804G; GA MZd(CZ) NV16-33018A
    Institutional support: RVO:67985823
    Keywords : ATP synthase * deficiency * knockdown * gamma and delta subunits * subunit c aggregates
    OECD category: Biochemistry and molecular biology
    Impact factor: 4.441, year: 2018
    Permanent Link: http://hdl.handle.net/11104/0284578

               
     
     
  4. 4.
    0470496 - FGÚ 2017 RIV GB eng J - Journal Article
    Hartmannová, H. - Piherová, L. - Tauchmannová, Kateřina - Kidd, K. - Acott, P. D. - Crocker, J. F. S. - Oussedik, Y. - Mallet, M. - Hodaňová, K. - Stránecký, V. - Přistoupilová, A. - Barešová, V. - Jedličková, I. - Živná, M. - Sovová, J. - Hůlková, H. - Robins, V. - Vrbacký, Marek - Pecina, Petr - Kaplanová, Vilma - Houštěk, Josef - Mráček, Tomáš - Thibeault, Y. - Bleyer, A. J. - Kmoch, S.
    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.
    Human Molecular Genetics. Roč. 25, č. 18 (2016), s. 4062-4079. ISSN 0964-6906. E-ISSN 1460-2083
    R&D Projects: GA ČR(CZ) GB14-36804G; GA MŠk(CZ) LL1204
    Institutional support: RVO:67985823
    Keywords : Acadian variant of Fanconi syndrome * mitochondrial complex I deficiency * NDUFAF6 * C8ORF38 * non-coding mutation * alternative splicing variant * protein isoforms
    Subject RIV: EB - Genetics ; Molecular Biology
    Impact factor: 5.340, year: 2016
    Permanent Link: http://hdl.handle.net/11104/0269081

               
     
     
  5. 5.
    0448192 - FGÚ 2016 RIV GB eng J - Journal Article
    Hejzlarová, Kateřina - Kaplanová, Vilma - Nůsková, Hana - Kovářová, Nikola - Ješina, Pavel - Drahota, Zdeněk - Mráček, Tomáš - Seneca, S. - Houštěk, Josef
    Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of F-o-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation.
    Biochemical Journal. Roč. 466, č. 3 (2015), s. 601-611. ISSN 0264-6021. E-ISSN 1470-8728
    R&D Projects: GA ČR(CZ) GAP303/11/0970; GA ČR(CZ) GB14-36804G; GA MŠk(CZ) LL1204; GA ČR(CZ) GAP303/12/1363
    Institutional support: RVO:67985823
    Keywords : ATP synthase * cytochrome c oxidase * mitochondrial diseases * mtDNA MT-ATP6 mutation * oxidative phosphorylation * threshold effect
    Subject RIV: EB - Genetics ; Molecular Biology
    Impact factor: 3.562, year: 2015
    Permanent Link: http://hdl.handle.net/11104/0249952

               
     
     
  6. 6.
    0428160 - FGÚ 2015 RIV CZ eng J - Journal Article
    Hejzlarová, Kateřina - Mráček, Tomáš - Vrbacký, Marek - Kaplanová, Vilma - Karbanová, Vendula - Nůsková, Hana - Pecina, Petr - Houštěk, Josef
    Nuclear genetic defects of mitochondrial ATP synthase.
    Physiological Research. Roč. 63, Suppl.1 (2014), S57-S71. ISSN 0862-8408. E-ISSN 1802-9973
    R&D Projects: GA ČR(CZ) GAP303/11/0970; GA ČR GAP303/12/1363; GA MZd(CZ) NT12370; GA MZd(CZ) NT14050
    Grant - others: Univerzita Karlova(CZ) 370411
    Institutional support: RVO:67985823
    Keywords : mitochondrial diseases * TMEM70 * ATPAF1 * ATP5A1 * ATP5E
    Subject RIV: EB - Genetics ; Molecular Biology
    Impact factor: 1.293, year: 2014
    Permanent Link: http://hdl.handle.net/11104/0233567

               
     
     
  7. 7.
    0359610 - FGÚ 2012 RIV NL eng J - Journal Article
    Hejzlarová, Kateřina - Tesařová, M. - Vrbacká-Čížková, A. - Vrbacký, Marek - Hartmannová, H. - Kaplanová, Vilma - Nosková, L. - Kratochvílová, H. - Buzková, J. - Havlíčková, Vendula - Zeman, J. - Kmoch, S. - Houštěk, Josef
    Expression and processing of the TMEM70 protein.
    Biochimica Et Biophysica Acta-Bioenergetics. Roč. 1807, č. 1 (2011), s. 144-149. ISSN 0005-2728. E-ISSN 1879-2650
    R&D Projects: GA MZd(CZ) NS9759; GA MŠk(CZ) 1M0520; GA ČR(CZ) GAP303/11/0970
    Grant - others: UK(CZ) 259089; UK(CZ) 56209; UK(CZ) 37710
    Institutional research plan: CEZ:AV0Z50110509
    Keywords : mitochondria * ATP synthase * TMEM70 * biogenesis * import
    Subject RIV: EB - Genetics ; Molecular Biology
    Impact factor: 4.843, year: 2011
    Permanent Link: http://hdl.handle.net/11104/0197366

               
     
     
  8. 8.
    0355560 - FGÚ 2011 RIV NL eng J - Journal Article
    Havlíčková, Vendula - Kaplanová, Vilma - Nůsková, Hana - Drahota, Zdeněk - Houštěk, Josef
    Knockdown of F1 epsilon subunit decreases mitochondrial content of ATP synthase and leads to accumulation of subunit c.
    Biochimica Et Biophysica Acta-Bioenergetics. Roč. 1797, 6-7 (2010), s. 1124-1129. ISSN 0005-2728. E-ISSN 1879-2650.
    [European Bioenergetics Conference /16./. Warsaw, 17.07.2010-22.07.2010]
    R&D Projects: GA MŠk(CZ) 1M0520; GA MZd(CZ) NS9759
    Grant - others: Univerzita Karlova(CZ) 97807
    Institutional research plan: CEZ:AV0Z50110509
    Keywords : ATP synthase * biogenesis * mitochondria
    Subject RIV: EB - Genetics ; Molecular Biology
    Impact factor: 5.132, year: 2010
    Permanent Link: http://hdl.handle.net/11104/0194304

               
     
     
  9. 9.
    0355559 - FGÚ 2011 RIV GB eng J - Journal Article
    Mayr, J. A. - Havlíčková, Vendula - Zimmermann, F. - Magler, I. - Kaplanová, Vilma - Ješina, Pavel - Pecinová, Alena - Nůsková, Hana - Koch, J. - Sperl, W. - Houštěk, Josef
    Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit.
    Human Molecular Genetics. Roč. 19, č. 17 (2010), s. 3430-3439. ISSN 0964-6906. E-ISSN 1460-2083
    R&D Projects: GA MZd(CZ) NS9759; GA MŠk(CZ) 1M0520
    Grant - others: Univerzita Karlova(CZ) 97807
    Institutional research plan: CEZ:AV0Z50110509
    Keywords : ATP-synthase * ATP5E * disease
    Subject RIV: EB - Genetics ; Molecular Biology
    Impact factor: 8.058, year: 2010
    Permanent Link: http://hdl.handle.net/11104/0194303

               
     
     
  10. 10.
    0315194 - FGÚ 2009 RIV US eng J - Journal Article
    Čížková, Alena - Stránecký, V. - Mayr, J. A. - Tesařová, M. - Havlíčková, Vendula - Paul, Jan - Ivánek, R. - Kuss, A. W. - Hansíková, H. - Kaplanová, Vilma - Vrbacký, Marek - Hartmannová, H. - Nosková, L. - Honzík, T. - Drahota, Zdeněk - Magner, M. - Hejzlarová, Kateřina - Sperl, W. - Zeman, J. - Houštěk, Josef - Kmoch, S.
    TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
    [Mutace genu TMEM70 jsou příčinou izolovaného defektu ATP syntázy a vedou k neonatální mitochondriální encefalokardiomyopatii.]
    Nature Genetics. Roč. 40, č. 11 (2008), s. 1288-1290. ISSN 1061-4036. E-ISSN 1546-1718
    R&D Projects: GA MŠk(CZ) 1M0520; GA ČR GD305/08/H037; GA ČR(CZ) GD303/03/H065
    Grant - others: Univerzita Karlova(CZ) 97807
    Institutional research plan: CEZ:AV0Z50110509
    Keywords : ATPase biogenesis * TMEM70 * mitochondrial disease
    Subject RIV: EB - Genetics ; Molecular Biology
    Impact factor: 30.259, year: 2008
    Permanent Link: http://hdl.handle.net/11104/0165465