Search results
- 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: 4.7, year: 2022
Method of publishing: Open access
https://www.mdpi.com/2227-9059/10/2/276
Permanent Link: http://hdl.handle.net/11104/0330319 - 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 MŠMT(CZ) LM2015040; GA MŠMT(CZ) ED1.1.00/02.0109; GA MŠMT 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 - 3.0490333 - 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 - 4.0470496 - 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 MŠMT(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 - 5.0448192 - 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 MŠMT(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 - 6.0428160 - 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 - 7.0359610 - 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 MŠMT(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 - 8.0355560 - 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 MŠMT(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 - 9.0355559 - 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 MŠMT(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 - 10.0315194 - 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 MŠMT(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