Search results
- 1.0142501 - FGU-C 20030121 RIV NL eng J - Journal Article
Pícková, Andrea - Paul, Jan - Petruzzella, V. - Houštěk, Josef
Differential expression of ATPAF1 and ATPAF2 genes encoding F(1)-ATPase assembly proteins in mouse tissues.
FEBS Letters. Roč. 551, 1-3 (2003), s. 42-46. ISSN 0014-5793. E-ISSN 1873-3468
R&D Projects: GA MŠMT LN00A079; GA MZd NE6533
Grant - others:GA UK(CZ) 12/2002/C
Institutional research plan: CEZ:MSM 111100003; CEZ:AV0Z5011922
Keywords : mitochondrial ATPase * gene expression * assembly
Subject RIV: FB - Endocrinology, Diabetology, Metabolism, Nutrition
Impact factor: 3.609, year: 2003
Permanent Link: http://hdl.handle.net/11104/0040203 - 2.0142500 - FGU-C 20030120 RIV NL eng J - Journal Article
Pecina, Petr - Čapková, M. - Chowdhury, Subir - Drahota, Zdeněk - Dubot, A. - Vojtíšková, Alena - Hansíková, H. - Houšťková, H. - Zeman, J. - Godinot, C. - Houštěk, Josef
Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome.
Biochimica Et Biophysica Acta-Molecular Basis of Disease. Roč. 1639, č. 1 (2003), s. 53-63. ISSN 0925-4439. E-ISSN 1879-260X
R&D Projects: GA MŠMT LN00A079; GA ČR GA303/03/0749; GA MZd NE6533
Grant - others:AFM Grant(XX) dDT2001; GA UK(CZ) 8/2000/C
Institutional research plan: CEZ:AV0Z5011922
Keywords : cytochrome c oxidase * SURF1 * Leigh syndrome
Subject RIV: FB - Endocrinology, Diabetology, Metabolism, Nutrition
Impact factor: 2.509, year: 2003
Permanent Link: http://hdl.handle.net/11104/0040202 - 3.0142407 - FGU-C 20020082 CZ cze J - Journal Article
Tesařová, M. - Hansíková, H. - Hlavatá, A. - Klement, P. - Houšťková, H. - Houštěk, Josef - Zeman, J.
Rozmanitost projevů heteroplazmické mtDNA mutace 8993 T>G ve dvou rodinách.
[Heterogeneous manifestation of heteroplasmic mtDNA mutation 8993 T>G in two families.]
Časopis lékařů českých. Roč. 141, č. 17 (2002), s. 551-554. ISSN 0008-7335
R&D Projects: GA MZd NE6533; GA MZd NE6555
Institutional research plan: CEZ:AV0Z5011922
Keywords : NARP syndrome * mtDNA mutation 8993 T>G
Subject RIV: EB - Genetics ; Molecular Biology
Permanent Link: http://hdl.handle.net/11104/0040111 - 4.0142178 - FGU-C 20010232 RIV US eng J - Journal Article
Williams, S. L. - Taanman, J. W. - Hansíková, H. - Houšťková, H. - Chowdhury, Subir - Zeman, J. - Houštěk, Josef
A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis.
Molecular Genetics and Metabolism. Roč. 73, č. 4 (2001), s. 340-343. ISSN 1096-7192. E-ISSN 1096-7206
R&D Projects: GA MŠMT LN00A079; GA ČR GA302/99/0648; GA MZd NE6533
Grant - others:The Wellcome Trust(XX) 048410
Institutional research plan: CEZ:AV0Z5011922
Keywords : SURF1 * exon skipping * mitochondrial disorder
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 2.345, year: 2001
Permanent Link: http://hdl.handle.net/11104/0039886 - 5.0103103 - FGU-C 20040080 RIV CZ cze J - Journal Article
Houštěk, Josef - Zeman, J.
Dědičné poruchy mitochondriální ATP syntázy.
[Hereditary disorders of mitochondrial ATP synthase.]
Časopis lékařů českých. Roč. 143, č. 8 (2004), s. 517-520. ISSN 0008-7335
R&D Projects: GA MZd NE6533
Institutional research plan: CEZ:AV0Z5011922
Keywords : mitochondrial diseases * ATP synthase * oxygen radicals
Subject RIV: FB - Endocrinology, Diabetology, Metabolism, Nutrition
Permanent Link: http://hdl.handle.net/11104/0010435 - 6.0103081 - 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 - 7.0102578 - FGU-C 20040015 RIV US eng J - Journal Article
Dubot, A. - Godinot, C. - Dumur, V. - Sablonniere, B. - Stojkovic, T. - Cuisset, J. M. - Vojtíšková, Alena - Pecina, Petr - Ješina, Pavel - Houštěk, Josef
GUG is an efficient initiation codon to translate the human mitochondrial ATP6 gene.
[GUG může vystupovat jako účinný iniciační kodón při translaci lidského mitochondriálního genu ATP6.]
Biochemical and Biophysical Research Communications. Roč. 313, č. 3 (2004), s. 687-693. ISSN 0006-291X. E-ISSN 1090-2104
R&D Projects: GA MŠMT LN00A079; GA MZd NE6533
Grant - others:Fondation Jerome LeJeune(XE) Grant project; GA-(FR) CNRS; GA-(FR) Rhone Alpes Region
Institutional research plan: CEZ:AV0Z5011922
Keywords : GUG initiation codon * ATP6 gene * mitochondrial diseases
Subject RIV: CE - Biochemistry
Impact factor: 2.904, year: 2004
Permanent Link: http://hdl.handle.net/11104/0009926 - 8.0102576 - FGU-C 20040013 RIV US eng J - Journal Article
Vojtíšková, Alena - Ješina, Pavel - Kalous, Martin - Kaplanová, Vilma - Houštěk, Josef - Tesařová, M. - Fornůsková, D. - Zeman, J. - Dubot, A. - Godinot, C.
Mitochondrial membrane potential and ATP production in primary disorders of ATP synthase.
[Mitochondriální membránový potenciál a produkce ATP u primárních poruch ATP syntázy.]
Toxicology Mechanisms and Methods. Roč. 14, č. 1-2 (2004), s. 7-11. ISSN 1537-6516. E-ISSN 1537-6524
R&D Projects: GA MZd NE6533; GA MŠMT LN00A079
Institutional research plan: CEZ:AV0Z5011922
Keywords : ATP6 * membrane potential * mitochondrial diseases
Subject RIV: ED - Physiology
Impact factor: 0.464, year: 2004
Permanent Link: http://hdl.handle.net/11104/0009924 - 9.0000060 - FGÚ 2005 RIV CZ cze J - Journal Article
Tesařová, M. - Hansíková, H. - Hlavatá, A. - Klement, P. - Houšťková, H. - Houštěk, Josef - Zeman, J.
Rozmanitost projevů heteroplazmické mtDNA mutace 8993 T>G ve dvou rodinách.
[Heterogeneous manifestation of heteroplasmic mtDNA mutation 8993 T>G in two families.]
Časopis lékařů českých. Roč. 141, č. 17 (2002), s. 551-554. ISSN 0008-7335
R&D Projects: GA MZd(CZ) NE6533; GA MZd(CZ) NE6555; GA MŠMT(CZ) LN00A079
Institutional research plan: CEZ:AV0Z5011922
Keywords : NARP syndrome * mtDNA mutation 8993 T>G
Subject RIV: EB - Genetics ; Molecular Biology
Permanent Link: http://hdl.handle.net/11104/0017360 - 10.0000017 - FGÚ 2005 RIV CZ cze J - Journal Article
Houštěk, Josef - Houšťková, H.
Genetické aspekty mitochondriálních chorob.
[Genetics aspects of mitochondrial diseases.]
Zdravotnické noviny. Roč. 50, - (2001), s. 22-25. ISSN 0044-1996
R&D Projects: GA MZd(CZ) NE6533
Institutional research plan: CEZ:AV0Z5011922
Keywords : mitochondria * disease * mtDNA
Subject RIV: EB - Genetics ; Molecular Biology
Permanent Link: http://hdl.handle.net/11104/0017322