Search Results - "Dobrovolný, Robert"

Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II by Rybová, Jitka, Ledvinová, Jana, Sikora, Jakub, Kuchař, Ladislav, Dobrovolný, Robert

“…Mucopolysaccharidosis type II (MPSII) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene ( IDS, Xq28 )…”
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Loading of cell cultures with cholesterol‐dextran particles as a new functional test for Niemann–Pick type C disease by Majer, Filip, Asfaw, Befekadu, Kuchař, Ladislav, Mušálková, Dita, Steiner‐Mrázová, Lenka, Dobrovolný, Robert, Ledvinová, Jana, Hřebíček, Martin

“…Deuterium‐labeled cholesterol‐dextran particles (d4‐CholDex), prepared by co‐precipitation, were internalized by cultured human skin fibroblasts and HEK293…”
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Specific storage of glycoconjugates with terminal α-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B by Rybová, Jitka, Kuchar, Ladislav, Hulková, Helena, Asfaw, Befekadu, Dobrovolný, Robert, Sikora, Jakub, Havlícek, Vladimír, Škultéty, Ludovít, Ledvinová, Jana

“…Blood group B glycosphingolipids (B-GSLs) are substrates of the lysosomal alpha-galactosidase A (AGAL). Similar to its major substrate-globotriaosylceramide…”
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A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population by Merta, Miroslav, Reiterova, Jana, Ledvinova, Jana, Poupětová, Helena, Dobrovolný, Robert, Ryšavá, Romana, Maixnerová, Dita, Bultas, Jan, Motáň, Jiří, Slivkova, Jitka, Sobotova, Doris, Smrzova, Jana, Tesař, Vladimir

“…Background. Fabry disease (FD) is a genetic disorder characterized by accumulation of trihexosylceramide in lysosomes of various tissues leading to multiorgan…”
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Replacement of α-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients by Keslová-Veselíková, Jana, Hůlková, Helena, Dobrovolný, Robert, Asfaw, Befekadu, Poupětová, Helena, Berná, Linda, Sikora, Jakub, Goláň, Lubor, Ledvinová, Jana, Elleder, Milan

“…The function and intracellular delivery of enzyme therapeutics for Fabry disease were studied in cultured fibroblasts and in the biopsied tissues of two male…”
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Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases by Asfaw, Befekadu, Ledvinová, Jana, Dobrovolńy, Robert, Bakker, Henk D, Desnick, Robert J, van Diggelen, Otto P, de Jong, Jan G N, Kanzaki, Tamotsu, Chabas, Amparo, Maire, Irene, Conzelmann, Ernst, Schindler, Detlev

“…Skin fibroblast cultures from patients with inherited lysosomal enzymopathies, alpha-N-acetylgalactosaminidase (alpha-NAGA) and alpha-galactosidase A…”
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Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate alpha-galactosidase and alpha-N-acetylgalactosaminidase by Hujová, Jana, Sikora, Jakub, Dobrovolný, Robert, Poupetová, Helena, Ledvinová, Jana, Kostrouchová, Marta, Hrebícek, Martin

“…Human alpha-galactosidase A (alpha-GAL) and alpha-N-acetylgalactosaminidase (alpha-NAGA) are presumed to share a common ancestor. Deficiencies of these enzymes…”
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Recurrence of Fabry disease as a result of paternal germline mosaicism for α‐galactosidase a gene mutation by Dobrovolný, Robert, Dvořáková, Lenka, Ledvinová, Jana, Magage, Sudheera, Bultas, Jan, Lubanda, Jean C., Poupětová, Helena, Elleder, Milan, Karetová, Debora, Hřebíček, Martin

“…We present two sisters with a severe form of Fabry disease, who both carry the same mutation in the α‐galactosidase A (α‐gal A) gene (Q330X). Each of the…”
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IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing by Brejchova, Kristyna, Dudakova, Lubica, Skalicka, Pavlina, Dobrovolny, Robert, Masek, Petr, Putzova, Martina, Moosajee, Mariya, Tuft, Stephen J, Davidson, Alice E, Liskova, Petra

“…To report molecular genetic findings in six probands with congenital hereditary endothelial dystrophy (CHED) variably associated with hearing loss (also known…”
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A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia by Svaton, Michael, Skvarova Kramarzova, Karolina, Kanderova, Veronika, Mancikova, Andrea, Smisek, Petr, Jesina, Pavel, Krijt, Jakub, Stiburkova, Blanka, Dobrovolny, Robert, Sokolova, Jitka, Bakardjieva-Mihaylova, Violeta, Vodickova, Elena, Rackova, Marketa, Stuchly, Jan, Kalina, Tomas, Stary, Jan, Trka, Jan, Fronkova, Eva, Kozich, Viktor

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Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A) by Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Chiang, Shu-Chuan, Dobrovolny, Robert, Huang, Ai-Chu, Yeh, Hui-Ying, Chao, May-Chin, Lin, Shio-Jean, Kitagawa, Teruo, Desnick, Robert J, Hsu, Li-Wen

“…Fabry disease (α-galactosidase A (α-Gal A, GLA) deficiency) is a panethnic inborn error of glycosphingolipid metabolism. Because optimal therapeutic outcomes…”
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Replacement of [alpha]-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients by Keslová-veselíková, Jana, Hlková, Helena, Dobrovolný, Robert, Asfaw, Befekadu, Pouptová, Helena, Berná, Linda, Sikora, Jakub, Golá, Lubor, Ledvinová, Jana, Elleder, Milan

“…The function and intracellular delivery of enzyme therapeutics for Fabry disease were studied in cultured fibroblasts and in the biopsied tissues of two male…”
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Folate-Dependent Normocytic Anemia Caused By a Hypomorphic Mutation in SLC19A1 gene by Svaton, Michael, Skvarova Kramarzova, Karolina, Kanderova, Veronika, Smisek, Petr, Jesina, Pavel, Krijt, Jakub, Stiburkova, Blanka, Mancikova, Andrea, Dobrovolny, Robert, Bakardjieva-Mihaylova, Violeta, Vodickova, Elena, Stuchly, Jan, Kalina, Tomas, Stary, Jan, Trka, Jan, Fronkova, Eva, Kozich, Viktor

“…Next generation sequencing has enabled rapid diagnosis of patients with monogenic diseases and discovery of novel disease-causing variants. However, the…”
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Frequency of Unrecognized Fabry Disease Among Young European-American and African-American Men With First Ischemic Stroke by WOZNIAK, Marcella A, KITTNER, Steven J, DESNICK, Robert J, TUHRIM, Stanley, COLE, John W, STERN, Barney, DOBBINS, Mark, GRACE, Marie E, NAZARENKO, Irina, DOBROVOLNY, Robert, MCDADE, Eric

“…The cause of initial ischemic stroke in up to 30% of young patients remains unclear. Fabry disease, due to deficient alpha-galactosidase A (alpha-Gal A)…”
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Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging by Kuchar, Ladislav, Faltyskova, Helena, Krasny, Lukas, Dobrovolny, Robert, Hulkova, Helena, Ledvinova, Jana, Volny, Michael, Strohalm, Martin, Lemr, Karel, Kryspinova, Lenka, Asfaw, Befekadu, Rybová, Jitka, Desnick, Robert J., Havlicek, Vladimir

“…Fabry disease is an X-linked lysosomal storage disease due to deficient α-galactosidase A (α-Gal A) activity and the resultant lysosomal accumulation of…”
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Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease by Dobrovolny, Robert, Nazarenko, Irina, Kim, Jungmin, Doheny, Dana, Desnick, Robert J.

“…For most Mendelian disorders, targeted genome sequencing is an effective method to detect causative mutations. However, sequencing PCR‐amplified exonic regions…”
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Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase a gene mutation: Germline Mosaicism in Fabry Disease by Dobrovolný, Robert, Dvořáková, Lenka, Ledvinová, Jana, Magage, Sudheera, Bultas, Jan, Lubanda, Jean C., Poupětová, Helena, Elleder, Milan, Karetová, Debora, Hřebíček, Martin

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Relationship between X-inactivation and clinical involvement in fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population by DOBROVOLNY, Robert, DVORAKOVA, Lenka, LEDVINOVA, Jana, MAGAGE, Sudheera, BULTAS, Jan, LUBANDA, Jean C, ELLEDER, Milan, KARETOVA, Debora, PAVLIKOVA, Marketa, HREBICEK, Martin

“…We have identified 21 different alpha-galactosidase A gene (GLA) mutations in 22 unrelated Czech and Slovak families with Fabry disease. Eleven of these…”
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Fabry disease: renal sphingolipid distribution in the [alpha]-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging by Kuchar, Ladislav, Faltyskova, Helena, Krasny, Lukas, Dobrovolny, Robert, Hulkova, Helena, Ledvinova, Jana, Volny, Michael, Strohalm, Ma, Lemr, Karel, Kryspinova, Lenka, Asfaw, Befekadu, Rybova, Jitka, Desnick, Robert J, Havlicek, Vladimir

“…Fabry disease is an X-linked lysosomal storage disease due to deficient [alpha]-galactosidase A ([alpha]-Gal A) activity and the resultant lysosomal…”
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Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel [alpha]-galactosidase A (GLA) deletions causing Fabry disease by Dobrovolny, Robert, Nazarenko, Irina, Kim, Jungmin, Doheny, Dana, Desnick, Robert J

“…For most Mendelian disorders, targeted genome sequencing is an effective method to detect causative mutations. However, sequencing PCR-amplified exonic regions…”
Get full text