Loading of cell cultures with cholesterol‐dextran particles as a new functional test for Niemann–Pick type C disease
Majer, Filip, Asfaw, Befekadu, Kuchař, Ladislav, Mušálková, Dita, Steiner‐Mrázová, Lenka, Dobrovolný, Robert, Ledvinová, Jana, Hřebíček, Martin
Published in Journal of inherited metabolic disease (01.05.2022)
Published in Journal of inherited metabolic disease (01.05.2022)
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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
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
Published in Orphanet journal of rare diseases (05.04.2020)
Published in Orphanet journal of rare diseases (05.04.2020)
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Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy
Kuchař, Ladislav, Asfaw, Befekadu, Poupětová, Helena, Honzíková, Jitka, Tureček, František, Ledvinová, Jana
Published in Clinica chimica acta (21.10.2013)
Published in Clinica chimica acta (21.10.2013)
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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
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
Published in American journal of medical genetics. Part A (01.04.2009)
Published in American journal of medical genetics. Part A (01.04.2009)
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LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method
Kuchar, Ladislav, Berna, Linda, Poupetova, Helena, Ledvinova, Jana, Ruzicka, Petr, Dostalova, Gabriela, Reichmannova, Stella, Asfaw, Befekadu, Linhart, Ales, Sikora, Jakub
Published in Clinica chimica acta (15.07.2024)
Published in Clinica chimica acta (15.07.2024)
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Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases
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
Published in Journal of lipid research (01.07.2002)
Published in Journal of lipid research (01.07.2002)
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Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts
Asfaw, B, Schindler, D, Ledvinová, J, Cerný, B, Smíd, F, Conzelmann, E
Published in Journal of lipid research (01.09.1998)
Published in Journal of lipid research (01.09.1998)
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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
Rybová, Jitka, Kuchar, Ladislav, Hulková, Helena, Asfaw, Befekadu, Dobrovolný, Robert, Sikora, Jakub, Havlícek, Vladimír, Škultéty, Ludovít, Ledvinová, Jana
Published in Glycobiology (Oxford) (01.06.2018)
Published in Glycobiology (Oxford) (01.06.2018)
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Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging
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
Published in Analytical and bioanalytical chemistry (01.03.2015)
Published in Analytical and bioanalytical chemistry (01.03.2015)
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Journal Article
Fabry disease: renal sphingolipid distribution in the [alpha]-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging
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
Published in Analytical and bioanalytical chemistry (01.03.2015)
Published in Analytical and bioanalytical chemistry (01.03.2015)
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Link between a novel human γD-crystallin allele and a unique cataract phenotype explained by protein crystallography
KMOCH, S, BRYNDA, J, ASFAW, B, BEZOUSKA, K, NOVAK, P, REZACOVA, P, ONDROVA, L, FILIPEC, M, SEDLACEK, J, ELLEDER, M
Published in Human molecular genetics (22.07.2000)
Published in Human molecular genetics (22.07.2000)
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Mucolipidosis IV: Report of a Case with Ocular Restricted Phenotype Caused by Leaky Splice Mutation
Dobrovolny, Robert, Liskova, Petra, Ledvinova, Jana, Poupetova, Helena, Asfaw, Befekadu, Filipec, Martin, Jirsova, Katerina, Kraus, Josef, Elleder, Milan
Published in American journal of ophthalmology (01.04.2007)
Published in American journal of ophthalmology (01.04.2007)
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Replacement of α-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients
Keslová-Veselíková, Jana, Hůlková, Helena, Dobrovolný, Robert, Asfaw, Befekadu, Poupětová, Helena, Berná, Linda, Sikora, Jakub, Goláň, Lubor, Ledvinová, Jana, Elleder, Milan
Published in Virchows Archiv : an international journal of pathology (01.06.2008)
Published in Virchows Archiv : an international journal of pathology (01.06.2008)
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Journal Article
Replacement of [alpha]-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients
Keslová-veselíková, Jana, Hlková, Helena, Dobrovolný, Robert, Asfaw, Befekadu, Pouptová, Helena, Berná, Linda, Sikora, Jakub, Golá, Lubor, Ledvinová, Jana, Elleder, Milan
Published in Virchows Archiv : an international journal of pathology (01.06.2008)
Published in Virchows Archiv : an international journal of pathology (01.06.2008)
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Journal Article
Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patients
Brantova, Olga, Asfaw, Befekadu, Sladkova, Jana, Poupetova, Helena, Zivny, Jan, Magner, Martin, Krusek, Jan, Vesela, Katerina, Hansikova, Hana, Ledvinova, Jana, Tesarova, Marketa, Zeman, Jiri
Published in Biológia (01.04.2009)
Published in Biológia (01.04.2009)
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Journal Article
Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patients
Brantova, Olga, Befekadu Asfaw, Jana Sladkova, Helena Poupetova, Jan Zivny, Martin Magner, Jan Krusek, Katerina Vesela, Hana Hansikova, Jana Ledvinova, Marketa Tesarova, Jiri Zeman
Published in Biológia (2009)
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Published in Biológia (2009)
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Benzenediazonium Ion Derived from Sudan I Forms an 8-(Phenylazo)guanine Adduct in DNA
Stiborova, Marie, Asfaw, Befekadu, Frei, Eva, Schmeiser, Heinz H, Wiessler, Manfred
Published in Chemical research in toxicology (01.06.1995)
Published in Chemical research in toxicology (01.06.1995)
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Link between a novel human [gamma]D-crystallin allele and a unique cataract phenotype explained by protein crystallography
Kmoch, Stanislav, Brynda, Jiri, Befekadu Asfaw, Bezouka, Karel, Novak, Petr, Rezacova, Pavlina, Ondrova, Lenka, Filipec, Martin, Sedlacek, Juraj, Elleder, Milan
Published in Human molecular genetics (22.07.2000)
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Published in Human molecular genetics (22.07.2000)
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AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
Zivna, Martina, Dostalova, Gabriela, Baresova, Veronika, Musalkova, Dita, Kuchar, Ladislav, Befekadu Asfaw, Poupetova, Helena, Vlaskova, Hana, Kmochova, Tereza, Vyletal, Petr, Hartmannova, Hana, Hodanova, Katerina, Stranecky, Viktor, Steiner-Mrazova, Lenka, Hnizda, Ales, Radina, Martin, Votruba, Miroslav, Sovova, Jana, Treslova, Helena, Stolnaja, Larisa, Rekova, Petra, Roblova, Lenka, Honsova, Eva, Hulkova, Helena, Rychlik, Ivan, Bleyer, Anthony J, Linhart, Ales, Sikora, Jakub, Kmoch, Stanislav
Published in bioRxiv (28.09.2022)
Published in bioRxiv (28.09.2022)
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