. "http://www.isvav.cz/projectDetail.do?rowId=GA303/07/0781"^^ . . . . "Biogeneze a genetick\u00E9 poruchy cytochrom c oxid\u00E1zy" . . . . "Cytochrom c oxid\u00E1za (COX) je kl\u00ED\u010Dov\u00FDm enzymem pro mitochondri\u00E1ln\u00ED tvorbu ATP. Izolovan\u00E9 defekty COX vedou k t\u011B\u017Ek\u00FDm encefalo-kardio-myopati\u00EDm se \u0161patnou progn\u00F3zou a postihuj\u00ED p\u0159edev\u0161\u00EDm d\u011Btskou populaci. Jsou\u00A0zp\u016Fsoben\u00E9\u00A0 mutacemi v jadern\u00FDch genech k\u00F3duj\u00EDc\u00EDch specifick\u00E9 asembla\u010Dn\u00ED faktory nebo v\u00A0mitochondri\u00E1ln\u00EDch genech (mtDNA) pro podjednotky enzymu. C\u00EDlem projektu je (i) detailn\u00ED charakterizace etiopatogenn\u00EDch mechanism\u016F COX defekt\u016F s ohledem na energetickou deprivaci a oxida\u010Dn\u00ED stres zp\u016Fsoben\u00FD zv\u00FD\u0161enou produkc\u00ED voln\u00FDch kysl\u00EDkov\u00FDch radik\u00E1l\u016F. (ii) D\u00E1le se zam\u011B\u0159\u00EDme na zm\u011Bny biogeneze COX zp\u016Fsoben\u00E9 dysfunkc\u00ED r\u016Fzn\u00FDch asembla\u010Dn\u00EDch faktor\u016F a jejich tk\u00E1\u0148ov\u011B specifick\u00E9 projevy. (iii) Pokus\u00EDme se odhalit sekund\u00E1rn\u00ED mechanismy kompenzuj\u00EDc\u00ED COX defekty jadern\u00E9ho a mitochondri\u00E1ln\u00EDho p\u016Fvodu, jmenovit\u011B zm\u011Bny expresn\u00EDch profil\u016F gen\u016F v COX-deficientn\u00EDch bu\u0148k\u00E1ch. Navrhovan\u00FD projekt p\u0159edstavuje komplexn\u00ED p\u0159\u00EDstup ke studiu molekul\u00E1rn\u00ED podstaty poruch COX a navazuje na p\u0159edch\u00E1zej\u00EDc\u00ED projekt GA\u010CR 303/03/0749." . . " oxidative phosphorylation" . . . "GA303/07/0781" . "cytochrome c oxidase; oxidative phosphorylation; mitochondrial diseases"@en . . "Cytochrome c oxidase (COX) is the key enzyme for mitochondrial ATP production. The isolated COX defects result in severe encephalo-cardio-myopathies with poor prognosis and affect primarily children. They are mostly caused by mutations in nuclear genes coding for COX assembly factors or in mitochondrial genes (mtDNA) coding for enzyme subunits. The aim of the proposed project is: (i) To characterize in detail the etiopathogenic mechanisms of COX defects, with respect both to energetic deprivation and oxidative stress due to increased production of reactive oxygen species. (ii) We further aim to investigate changes in assembly factors and tissue-specific COX biogenesis. (iii) We will try to elucidate secondary mechanisms compensating for COX defects of nuclear and mitochondrial origin, namely the changes of the gene expression profiles of COX-deficient cells. The proposed project represents complex approach to study the molecular basis of COX disorders and is direct continuation of previous project"@en . "2009-04-22+02:00"^^ . "cytochrome c oxidase" . . "2009-12-31+01:00"^^ . "Kolektiv \u0159e\u0161itel\u016F grantov\u00E9 aplikace, kterou nejd\u0159\u00EDve podal dr. Pecina a od druh\u00E9ho roku \u0159e\u0161en\u00ED \u0159e\u0161il Dr. Hou\u0161t\u011Bk, \u0159e\u0161il t\u00E9ma biogeneze a genetick\u00FDch poruch cytochrom c oxid\u00E1zy. C\u00EDlem bylo objasnit poruchy tohoto syst\u00E9mu u n\u011Bkter\u00FDch onemocn\u011Bn\u00ED, diabetu, ob"@cs . "1"^^ . "1"^^ . "2015-01-22+01:00"^^ . . . "."@en . "2007-01-01+01:00"^^ . . . . "0"^^ . . "Biogenesis and genetic defects of cytochrome c oxidase"@en . . . "8"^^ . "8"^^ .