Search results
- 1.0383276 - FGÚ 2013 RIV NL eng J - Journal Article
Kovářová, Nikola - Vrbacká-Čížková, Alena - Pecina, Petr - Stránecký, V. - Pronicka, E. - Kmoch, S. - Houštěk, Josef
Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.
Biochimica Et Biophysica Acta-Molecular Basis of Disease. Roč. 1822, č. 7 (2012), s. 1114-1124. ISSN 0925-4439. E-ISSN 1879-260X
R&D Projects: GA MZd(CZ) NS9759; GA MZd(CZ) NT12370; GA ČR(CZ) GD305/08/H037
Institutional research plan: CEZ:AV0Z50110509
Institutional support: RVO:67985823
Keywords : mitochondrial disorder * SURF1 gene * Leigh syndrome * gene expression * oxidative phosphorylation * cytochrome c oxidase
Subject RIV: FG - Pediatrics
Impact factor: 4.910, year: 2012
Permanent Link: http://hdl.handle.net/11104/0213266 - 2.0142178 - 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 - 3.0075930 - FGÚ 2007 CZ eng A - Abstract
Ješina, Pavel - Sperl, W. - Zeman, J. - Mayr, J. A. - DeMeirleir, L. - Van Coster, R. - Pícková, Andrea - Hansíková, H. - Houšťková, H. - Krejčík, Z. - Koch, J. - Holme, E. - Houštěk, Josef
Isolated deficiency of mitochondrial ATP synthase caused by nuclear genetic defects.
[Izolovaný deficit mitochondriální ATP syntázy jaderného původu.]
Československá pediatrie. Česká lékařská společnost J. E. Purkyně. Roč. 61, č. 5 (2006), s. 281-281. ISSN 0069-2328.
[Český pediatrický kongres s mezinárodní účastí /7./. 08.06.2006-11.06.2006, Praha]
R&D Projects: GA MZd NR7790
Keywords : ATP synthase * mitochondrial disorder
Subject RIV: CE - Biochemistry
Permanent Link: http://hdl.handle.net/11104/0143160