Search results
- 1.0559909 - ÚMG 2023 RIV GB eng J - Journal Article
Vidali, S. - Rozman, Jan - Spielmann, N. - Gerlini, R. - Thompson, K. - Urquhart, J. E. - Meisterknech, J. - Aguilar-Pimentel, J. A. - Amarie, O. V. - Becker, L. - Breen, C. - Calzada-Wack, J. - Chhabra, N. V. - Cho, Y. L. - Da Silva-Buttkus, P. - Feichtinge, R. G. - Gampe, K. - Garrett, L. - Hoefig, K. P. - Hölter, S. M. - Jameson, E. - Klein-Rodewald, T. - Leuchtenberger, S. - Marschall, S. - Gailus-Durne, V. … Total 44 authors
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
EMBO Molecular Medicine. Roč. 13, č. 12 (2021), č. článku e14397. ISSN 1757-4676. E-ISSN 1757-4684
Institutional support: RVO:68378050
Keywords : complex III * mitochondrial disease * mouse model * oxphos * uqcrh
OECD category: Immunology
Impact factor: 14.005, year: 2021
Method of publishing: Open access
https://www.embopress.org/doi/full/10.15252/emmm.202114397
Permanent Link: https://hdl.handle.net/11104/0333033 - 2.0500260 - FGÚ 2019 RIV US eng J - Journal Article
Alston, Ch. L. - Heidler, J. - Dibley, M. G. - Kremer, L. S. - Taylor, L. S. - Fratter, C. - French, C. E. - Glasgow, R. I. C. - Feichtinger, R. G. - Delon, I. - Pagnamenta, A. T. - Dolling, H. - Lemonde, H. - Aiton, N. - Bjornstad, A. - Henneke, L. - Gärtner, J. - Thiele, H. - Tauchmannová, Kateřina - Quaghebeur, G. - Houštěk, Josef - Sperl, W. - Raymond, F. L. - Prokisch, H. - Mayr, J. A. - McFarland, R. - Poulton, J. - Ryan, M. T. - Wittig, I. - Henneke, M. - Taylor, R. W.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
American Journal of Human Genetics. Roč. 103, č. 4 (2018), s. 592-601. ISSN 0002-9297. E-ISSN 1537-6605
R&D Projects: GA ČR(CZ) GB14-36804G
Institutional support: RVO:67985823
Keywords : complex I * NDUFA6 * mitochondrial disease * complexome profiling
OECD category: Biochemistry and molecular biology
Impact factor: 9.924, year: 2018
Permanent Link: http://hdl.handle.net/11104/0292372 - 3.0355558 - FGÚ 2011 RIV GB eng J - Journal Article
Honzík, T. - Tesařová, M. - Mayr, J. A. - Hansíková, H. - Ješina, P. - Bodamer, O. - Koch, J. - Magner, M. - Freisinger, P. - Huemer, M. - Kostková, O. - Van Coster, R. - Kmoch, S. - Houštěk, Josef - Sperl, W. - Zeman, J.
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
Archives of Disease in Childhood. Roč. 95, č. 4 (2010), s. 296-301. ISSN 0003-9888. E-ISSN 1468-2044
R&D Projects: GA MZd(CZ) NS9759; GA MŠMT(CZ) 1M0520
Institutional research plan: CEZ:AV0Z50110509
Keywords : TMEM70 * ATP synthase * mitochondrial disease
Subject RIV: FG - Pediatrics
Impact factor: 2.616, year: 2010
Permanent Link: http://hdl.handle.net/11104/0194302 - 4.0320986 - FGÚ 2009 IT eng A - Abstract
Houštěk, Josef - Kmoch, S. - Mayr, J. A. - Sperl, W. - Zeman, J.
Nuclear genetic defects of mitochondrial ATP synthase.
[Jaderné genetické defekty mitochondriální ATP synthasy.]
Bari International Symposium on Mitochondrial Physiology and Pathology. Bari: University of Bari, 2008. L5.3-L5.3.
[IUBMB Symposium S1. 22.06.2008-26.06.2008, Bari]
R&D Projects: GA MŠMT(CZ) 1M0520
Institutional research plan: CEZ:AV0Z50110509
Keywords : spr2 * mitochondrial disease * ATP synthase defects * nuclear mutation
Subject RIV: EB - Genetics ; Molecular Biology
Permanent Link: http://hdl.handle.net/11104/0169691 - 5.0315194 - 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 - 6.0103101 - FGU-C 20040078 RIV NL eng J - Journal Article
Houštěk, Josef - Mráček, Tomáš - Vojtíšková, Alena - Zeman, J.
Mitochondrial diseases and ATPase defects of nuclear origin.
[Mitochondriální onemocnění a defekty ATPázy jaderného původu.]
Biochimica Et Biophysica Acta-Bioenergetics. Roč. 1658, č. 1-2 (2004), s. 115-121. ISSN 0005-2728. E-ISSN 1879-2650
R&D Projects: GA MZd NR7790
Institutional research plan: CEZ:AV0Z5011922
Keywords : mitochondrial disease * cardiomyopathy * ATP synthase
Subject RIV: FB - Endocrinology, Diabetology, Metabolism, Nutrition
Impact factor: 3.503, year: 2004
Permanent Link: http://hdl.handle.net/11104/0010433 - 7.0076249 - FGÚ 2007 IT eng A - Abstract
Houštěk, Josef
Mitochondrial diseases and genetic defects of ATP synthase.
[Mitochondriální onemocnění a genetické poruchy ATP syntázy.]
Bari International Conference on Mitochondria, from Molecular Insight to Physiology and Pathology. Bari, 2005. s. 97-97.
[International Conference on Mitochondria, from Molecular Insight to Physiology and Pathology. 17.12.2005-22.12.2005, Bari]
R&D Projects: GA MZd NR7790
Institutional research plan: CEZ:AV0Z5011922
Keywords : ATP synthase * mitochondrial disease
Subject RIV: CE - Biochemistry
Permanent Link: http://hdl.handle.net/11104/0143401 - 8.0025232 - FGÚ 2006 RIV GB eng J - Journal Article
Ješina, Pavel - Tesařová, M. - Fornůsková, D. - Vojtíšková, Alena - Pecina, Petr - Kaplanová, Vilma - Hansíková, H. - Zeman, J. - Houštěk, Josef
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.
[Snížená syntéza podjednotky a a změněná funkce ATP syntázy a cytochrom c oxidázy v důsledku mtDNA mutace dvou párů bazí v pozici 9205 a 9206.]
Biochemical Journal. Roč. 383, č. 3 (2004), s. 561-571. ISSN 0264-6021. E-ISSN 1470-8728
R&D Projects: GA ČR(CZ) GA303/03/0749; GA MZd(CZ) NR7790; GA MZd(CZ) NR8065
Grant - others:GA UK(CZ) 14/2004
Institutional research plan: CEZ:AV0Z5011922
Keywords : ATP6 * ATP synthase * mitochondrial disease
Subject RIV: FB - Endocrinology, Diabetology, Metabolism, Nutrition
Impact factor: 4.278, year: 2004
Permanent Link: http://hdl.handle.net/11104/0115643 - 9.0025229 - FGÚ 2006 RIV US eng J - Journal Article
Pecina, Petr - Gnaiger, E. - Zeman, J. - Pronicka, E. - Houštěk, Josef
Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations.
[Snížení afinity ke kyslíku cytochrom c oxidázy u Leigh syndromu způsobeného SURF1 mutacemi.]
American Journal of Physiology-Cell Physiology. Roč. 287, č. 5 (2004), s. C1384-C1388. ISSN 0363-6143. E-ISSN 1522-1563
R&D Projects: GA ČR(CZ) GA303/03/0749
Grant - others:CZ-AT(CZ) Kontakt-Aktion 2004/S; GA UK(CZ) 24/2004
Institutional research plan: CEZ:AV0Z5011922
Keywords : oxygen kinetics * mitochondrial disease * SURF1
Subject RIV: FB - Endocrinology, Diabetology, Metabolism, Nutrition
Impact factor: 3.939, year: 2004
Permanent Link: http://hdl.handle.net/11104/0115640