. . . . . "Phenotype-genotype relations in lysosomal storage diseases related to beta-galactosidase deficiency"@en . "acid beta-galactosidase; GM1-gangliosidosis; Morquio B; phenotype-genotype relations; GLB1-mutants; cell culture studies; [3H]GM1-ganglioside loading"@en . . "1"^^ . " phenotype-genotype relations" . . "0"^^ . " GM1-gangliosidosis" . "1"^^ . . "1"^^ . " Morquio B" . . "2009-01-01+01:00"^^ . "2010-06-09+02:00"^^ . . "0"^^ . "Effect of pharmaceutical chaperons on function of \u03B2-galactosidase was studied in GLB1 mutant cells (GM1 gangliosidosis). For that purpose, methodology of loading tests in situ with natural substrates either mass or radioisotope labelled, was elaborated."@en . . "Zm\u011Bny ve strukturn\u00EDm genu (GLB1) kysel\u00E9 \u00DF-galaktosidasy (\u00DF-gal; EC 3.2.1.23) mohou m\u00EDt za n\u00E1sledek dva rozd\u00EDln\u00E9 fenotypy lysosom\u00E1ln\u00EDch st\u0159\u00E1dav\u00FDch onemocn\u011Bn\u00ED, GM1-gangliosidosu (OMIM #230500) and Morquiovu chorobu typu B (OMIM #253010). Laborato\u0159 v Grazu nad\u00E1vno shrom\u00E1\u017Edila data o klinick\u00FDch fenotypech od v\u00EDce ne\u017E 100 pacient\u016F s GM1-gangliosidosou a Morquio B z mnoha evropsk\u00FDch zem\u00ED. Jejich genotypy byly analysov\u00E1ny a proteinov\u00E9 produkty n\u011Bkter\u00FDch zji\u0161t\u011Bn\u00FDch mutac\u00ED byly d\u00E1le charakterisov\u00E1ny pomoc\u00ED substr\u00E1tov\u00FDch analog\u016F. V dal\u0161\u00ED f\u00E1zi bude tento v\u00FDzkum roz\u0161\u00ED\u0159en o studii degradace p\u0159irozen\u00FDch substr\u00E1t\u016F ur\u010Duj\u00EDc\u00EDch fenotyp v podm\u00EDnk\u00E1ch in vivo v bun\u011B\u010Dn\u00E9 kultu\u0159e kultu\u0159e fibroblast\u016F s deficitem β-galakosidasy a stabiln\u011B transfekovan\u00FDch fibroblastech se specifick\u00FDmi mutacemi. Tento c\u00EDl chceme dos\u00E1hnout s podporou tohoto projektu pomoc\u00ED in vivo studi\u00ED s p\u0159irozen\u00FDm substratem [3H]GM1-gangliosidem ve spolupr\u00E1ci s pra\u017Eskou laborato\u0159\u00ED, kter\u00E1 m\u00E1 s t\u00EDmto typem experiment\u016F dlouhodobou zku\u0161enost. Z\u00E1m" . . . "Vztah fenotypu a genotypu u lysosom\u00E1ln\u00EDch d\u011Bdi\u010Dn\u00FDch poruch s deficitem aktivity beta galaktosidasy" . "Alterations in the structural gene (GLB1) of acid \u00DF-galactosidase (\u00DF-gal; EC 3.2.1.23) can result in two different phenotypes of lysosomal storage diseases, GM1-gangliosidosis (OMIM #230500) and Morquio disease type B (OMIM #253010). In the laboratory in Graz, data on clinical phenotypes of more than 100 GM1-gangliosidosis and Morquio B patients from many European countries were recently collected. Their genotypes were analyzed and defective protein products of some identified mutations have been further characterized using substrate analogues In the next stage our studies will be extended to the degradation of the two main phenotype-determining natural substrates under in vivo conditions in cultured fibroblasts with β-galactosidase deficiency and permanently transfected fibroblast lines carrying specific mutations. To accomplish this goal, in vivo-degradation studies with the natural substrate [3H]GM1-ganglioside will be done in collaboration with Prague laboratory that have had long-time e"@en . "acid beta-galactosidase" . "MEB060904" . . . " cell culture studies" . "2010-12-31+01:00"^^ . "2011-06-30+02:00"^^ . . "http://www.isvav.cz/projectDetail.do?rowId=MEB060904"^^ . . . "Byl studov\u00E1n vliv farmaceutick\u00FDch chaperon\u016F na funkci \u03B2-galaktosidasy v bu\u0148k\u00E1ch s mutacemi v GLB1 genu (GM1 gangliosidosa). K\u00A0tomuto \u00FA\u010Delu byla vypracov\u00E1na metoda z\u00E1t\u011B\u017Eov\u00FDch test\u016F in situ s\u00A0p\u0159irozen\u00FDm hmotnostn\u011B nebo radioisotopov\u011B zna\u010Den\u00FDm substr\u00E1tem"@cs . " GLB1-mutants" . . .