Search results
- 1.0544058 - ÚMG 2022 RIV US eng J - Journal Article
Biagosch, C.A. - Vidali, S. - Faerberboeck, M. - Hensler, S.V. - Becker, L. - Amarie, O. - Aguilar-Pimentel, A. - Garrett, L. - Klein-Rodewald, T. - Rathkolb, B. - Zanuttigh, E. - Calzada-Wack, J. - Da Silva-Buttkus, P. - Rozman, Jan - Treise, I. - Fuchs, H. - Gailus-Durner, V. - de Angelis, M.H. - Janik, D. - Wurst, W. - Mayr, J. A. - Klopstock, T. - Meitinger, T. - Prokisch, H. - Iuso, A.
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.
Mammalian Genome. Roč. 32, č. 5 (2021), s. 332-349. ISSN 0938-8990. E-ISSN 1432-1777
Institutional support: RVO:68378050
Keywords : mitochondrial energy-metabolism * autophagy * mutations * protocol * shirpa * dna * neurodegeneration * effectors * proteins
OECD category: Biochemistry and molecular biology
Impact factor: 3.224, year: 2021
Method of publishing: Limited access
https://link.springer.com/article/10.1007%2Fs00335-021-09875-3
Permanent Link: http://hdl.handle.net/11104/0321130 - 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 - 3.0355559 - 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 - 4.0355558 - 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 - 5.0318461 - ÚMG 2009 RIV GB eng J - Journal Article
Čížková, Alena - Stránecký, V. - Ivánek, Robert - Hartmannová, H. - Nosková, L. - Piherová, L. - Tesařová, M. - Hansíková, H. - Honzík, T. - Zeman, J. - Divina, Petr - Potocká, A. - Paul, J. - Sperl, W. - Mayr, J. A. - Seneca, S. - Houštěk, J. - Kmoch, S.
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.
[Vývoj lidského mitochondriálního oligonukleotidového čipu (h-MitoArray).]
BMC Genomics. Roč. 9, - (2008), s. 38-38. ISSN 1471-2164. E-ISSN 1471-2164
R&D Projects: GA ČR(CZ) GD303/03/H065; GA ČR(CZ) GA303/07/0781
Grant - others:GA MZd(CZ) NR8069
Institutional research plan: CEZ:AV0Z50110509; CEZ:AV0Z50520514
Keywords : microarray * mitochondria * F1Fo ATP synthase deficiency
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 3.926, year: 2008
Permanent Link: http://hdl.handle.net/11104/0167870 - 6.0315194 - 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 - 7.0103081 - FGU-C 20040090 RIV US eng J - Journal Article
Mayr, J. A. - Paul, Jan - Pecina, Petr - Kurnik, P. - Förster, H. - Fötschl, U. - Sperl, W. - Houštěk, Josef
Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase.
[Snížená ADP respirační kontrola a změny v enzymech dýchacího řetězce jako důsledek selektivního defektu mitochondriální ATP syntázy.]
Pediatric Research. Roč. 55, č. 6 (2004), s. 988-994. ISSN 0031-3998. E-ISSN 1530-0447
R&D Projects: GA MZd NE6533
Grant - others:CZ - AT(CZ) KONTAKT 2001-20
Institutional research plan: CEZ:AV0Z5011922; CEZ:MSM 111100003
Keywords : ATP synthase * oxidative phosphorylation
Subject RIV: FB - Endocrinology, Diabetology, Metabolism, Nutrition
Impact factor: 2.875, year: 2004
Permanent Link: http://hdl.handle.net/11104/0010413 - 8.0049061 - FGÚ 2007 RIV US eng J - Journal Article
Sperl, W. - Ješina, Pavel - Zeman, J. - Mayr, J. A. - DeMeirleir, L. - VanCoster, R. - Pícková, Andrea - Hansíková, H. - Houšťková, H. - Krejčík, Zdeněk - Koch, J. - Smet, J. - Muss, W. - Holme, E. - Houštěk, Josef
Deficiency of mitochondrial ATP synthase of nuclear genetic origin.
[Klinické a biochemické projevy izolovaných defektů ATP syntázy jaderného původu.]
Neuromuscular Disorders. Roč. 16, č. 11 (2006), s. 821-829. ISSN 0960-8966. E-ISSN 1873-2364
R&D Projects: GA MZd(CZ) NR7790; GA MŠMT(CZ) 1M0520
Grant - others:CZ-AT(CZ) 6-06-3
Institutional research plan: CEZ:AV0Z50110509
Keywords : mitochondria * ATP synthase * disease
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 2.615, year: 2006
Permanent Link: http://hdl.handle.net/11104/0139555