Search Results - "Befekadu Asfaw"

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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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations by Musalkova, Dita, Majer, Filip, Kuchar, Ladislav, Luksan, Ondrej, Asfaw, Befekadu, Vlaskova, Hana, Storkanova, Gabriela, Reboun, Martin, Poupetova, Helena, Jahnova, Helena, Hulkova, Helena, Ledvinova, Jana, Dvorakova, Lenka, Sikora, Jakub, Jirsa, Milan, Vanier, Marie T, Hrebicek, Martin

“…Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused by mutations in the NPC1 or the NPC2 gene. NPC1 is a multipass-transmembrane protein…”
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Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy by Kuchař, Ladislav, Asfaw, Befekadu, Poupětová, Helena, Honzíková, Jitka, Tureček, František, Ledvinová, Jana

“…Prediagnostic steps in suspected metachromatic leukodystrophy (MLD) rely on clinical chemical methods other than enzyme assays. We report a new diagnostic…”
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Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations by Kuchař, Ladislav, Ledvinová, Jana, Hřebíček, Martin, Myšková, Helena, Dvořáková, Lenka, Berná, Linda, Chrastina, Petr, Asfaw, Befekadu, Elleder, Milan, Petermöller, Margret, Mayrhofer, Heidi, Staudt, Martin, Krägeloh-Mann, Ingeborg, Paton, Barbara C., Harzer, Klaus

“…Prosaposin deficiency (pSap‐d) and saposin B deficiency (SapB‐d) are both lipid storage disorders caused by mutations in the PSAP gene that codes for the 65–70…”
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LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method by Kuchar, Ladislav, Berna, Linda, Poupetova, Helena, Ledvinova, Jana, Ruzicka, Petr, Dostalova, Gabriela, Reichmannova, Stella, Asfaw, Befekadu, Linhart, Ales, Sikora, Jakub

“…•Novel and easy LC-MS/MS method for lysoGb3 quantitation in FD patients.•AGAL activity/lysoGb3 ratio predictively surpasses lysoGb3 measurements.•Urinary…”
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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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Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts by Asfaw, B, Schindler, D, Ledvinová, J, Cerný, B, Smíd, F, Conzelmann, E

“…The degradation of blood group glycolipid A-6-2 (GalNAc(alpha1-->3)[Fuc alpha1-->2]Gal(beta1-->4)GlcNAc(beta1-->3)Gal(beta1-->4)Glc(beta1-->1')C er,…”
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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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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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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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Link between a novel human γD-crystallin allele and a unique cataract phenotype explained by protein crystallography by KMOCH, S, BRYNDA, J, ASFAW, B, BEZOUSKA, K, NOVAK, P, REZACOVA, P, ONDROVA, L, FILIPEC, M, SEDLACEK, J, ELLEDER, M

“…We describe a 5-year-old boy with a unique congenital cataract caused by deposition of numerous birefringent, pleiochroic and macroscopically prismatic…”
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Mucolipidosis IV: Report of a Case with Ocular Restricted Phenotype Caused by Leaky Splice Mutation by Dobrovolny, Robert, Liskova, Petra, Ledvinova, Jana, Poupetova, Helena, Asfaw, Befekadu, Filipec, Martin, Jirsova, Katerina, Kraus, Josef, Elleder, Milan

“…Purpose To confirm and define a molecular basis for a case of mucolipidosis type IV (ML IV) with an extremely atypical phenotype pattern. Design Observational…”
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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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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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Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patients by Brantova, Olga, Asfaw, Befekadu, Sladkova, Jana, Poupetova, Helena, Zivny, Jan, Magner, Martin, Krusek, Jan, Vesela, Katerina, Hansikova, Hana, Ledvinova, Jana, Tesarova, Marketa, Zeman, Jiri

“…α -Mannosidosis is a lysosomal storage disorder caused by α -mannosidase deficiency. Clinical course of the disease ranges from severe infantile to milder…”
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Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patients by Brantova, Olga, Befekadu Asfaw, Jana Sladkova, Helena Poupetova, Jan Zivny, Martin Magner, Jan Krusek, Katerina Vesela, Hana Hansikova, Jana Ledvinova, Marketa Tesarova, Jiri Zeman

“…α-Mannosidosis is a lysosomal storage disorder caused by α-mannosidase deficiency. Clinical course of the disease ranges from severe infantile to milder…”
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Determination of Urinary Sulfatides and Other Lipids by Combination of Reversed-Phase and Thin-Layer Chromatographies by Berná, Linda, Asfaw, Befekadu, Conzelmann, Ernst, Černý, Bohuslav, Ledvinová, Jana

“…A fast and simple method for determination of sulfatides in the urine of patients with metachromatic leukodystrophy (MLD, arylsulfatase A deficiency) has been…”
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Benzenediazonium Ion Derived from Sudan I Forms an 8-(Phenylazo)guanine Adduct in DNA by Stiborova, Marie, Asfaw, Befekadu, Frei, Eva, Schmeiser, Heinz H, Wiessler, Manfred

“…1-(Phenylazo)-2-hydroxynaphthalene (Sudan I, Solvent Yellow 14) is a liver and urinary bladder carcinogen in mammals. Sudan I forms benzenediazonium ion during…”
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Link between a novel human [gamma]D-crystallin allele and a unique cataract phenotype explained by protein crystallography by Kmoch, Stanislav, Brynda, Jiri, Befekadu Asfaw, Bezouka, Karel, Novak, Petr, Rezacova, Pavlina, Ondrova, Lenka, Filipec, Martin, Sedlacek, Juraj, Elleder, Milan

“…We describe a 5-year-old boy with a unique congenital cataract caused by deposition of numerous birefringent, pleiochroic and macroscopically prismatic…”
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Activation of carcinogens by peroxidase Horseradish peroxidase-mediated formation of benzenediazonium ion from a non-aminoazo dye, 1-phenylazo-2-hydroxynaphthalene (Sudan I) and its binding to DNA by Stiborová, Marie, Asfaw, Befekadu, Anzenbacher, Pavel

“…Horseradish peroxidase in the presence of hydrogen peroxide (HRP/H 2O 2) oxidizes a carcinogenic non-aminoazo dye, 1-phenylazo-2-hydroxynaphthalene (Sudan I)…”
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