. . " cystathionine beta-synthase" . "hydrogen sulfide; homocystinuria; cystathionine beta-synthase; remethylation; metabolism; cytochrom C oxidase; HIF-1; C. elegans"@en . " HIF-1" . "2015-04-30+02:00"^^ . . " metabolism" . . "The aim of the project is to determine the proportion of enzymes metabolizing sulfur amino acids in maintaining homeostasis of hydrogen sulfide (H2S) in the body. We assume that CBS deficiency leads to reduced production of H2S, while remethylation type of homocystinuria is accompanied by increased production of H2S due to increased flow of homocysteine and cysteine in the transsulfuration pathway. In the project we will study production of H2S by a/mutated CBS enzymes, b/in fibroblasts of patients with homocystinuria, c/ in plasmas of patients with homocystinuria and d/ in C. elegans with homocystinuria. The results of the project will show unique and novel insight into the quantitative contribution of enzymes involved in the metabolism of H2S. These findings may also lead to understand the pathogenetic mechanisms of homocystinuria and lead to new therapeutic approaches based on modulation of the H2S levels in the body."@en . . . "hydrogen sulfide" . "LD14082" . " homocystinuria" . "http://www.isvav.cz/projectDetail.do?rowId=LD14082"^^ . . "Metabolismus sirovod\u00EDku u homocystinuri\u00ED" . "C\u00EDlem projektu je zjistit, jak\u00FD je pod\u00EDl jednotliv\u00FDch enzym\u016F zpracov\u00E1vaj\u00EDc\u00EDch sirn\u00E9 aminokyseliny p\u0159i udr\u017Eov\u00E1n\u00ED homeost\u00E1zy sirovod\u00EDku v organismu. P\u0159edpokl\u00E1d\u00E1me, \u017Ee u deficitu CBS se sni\u017Euje produkce sirovod\u00EDku, zat\u00EDmco homocystinurie remethyla\u010Dn\u00EDho typu jsou doprov\u00E1zeny zv\u00FD\u0161enou produkc\u00ED H2S v d\u016Fsledku zv\u00FD\u0161en\u00ED toku homocysteinu a cysteinu transsulfura\u010Dn\u00ED dr\u00E1hou. V projektu budeme studovat tvorbu sirovod\u00EDku a/mutovan\u00FDmi typy enzymu CBS, b/ve fibroblastech pacient\u016F s homocystinuriemi (enzymov\u00FDmi deficity ve zpracov\u00E1n\u00ED homocysteinu), c/v plasm\u011B u pacient\u016F s homocystinuriemi a d/u model\u016F C. elegans s homocystinuri\u00ED. V\u00FDsledky projektu ve form\u011B sd\u011Blen\u00ED na konferenc\u00EDch a publikac\u00ED v \u010Dasopisech s impakt faktorem p\u0159inesou unik\u00E1tn\u00ED a zcela nov\u00E9 poznatky o kvantitativn\u00EDm p\u0159\u00EDnosu enzym\u016F pod\u00EDlej\u00EDc\u00EDch se na metabolismu sirovod\u00EDku, povedou t\u00E9\u017E k pochopen\u00ED patogenetick\u00FDch mechanism\u016F u homocystinuri\u00ED a mohou v\u00E9st i k nov\u00FDm l\u00E9\u010Debn\u00FDm p\u0159\u00EDstup\u016Fm zalo\u017Een\u00FDm na modulaci hladin sirovod\u00EDku." . . "2014-04-01+02:00"^^ . "0"^^ . " cytochrom C oxidase" . . . . "1"^^ . "0"^^ . "2014-05-19+02:00"^^ . "0"^^ . . " remethylation" . "2015-04-29+02:00"^^ . . "0"^^ . . . . . . "Hydrogen sulfide metabolism in homocystinurias"@en . .