Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Befekadu Asfaw"'
Autor:
Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier, Martin Hrebicek
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background 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 essential for egress of cholesterol from late endosomes/lysosomes. To
Externí odkaz:
https://doaj.org/article/031fa5ce876346a8afddbb9efd991352
Autor:
Befekadu Asfaw, Jana Ledvinová, Robert Dobrovolńy, Henk D. Bakker, Robert J. Desnick, Otto P. van Diggelen, Jan G.N. de Jong, Tamotsu Kanzaki, Amparo Chabas, Irene Maire, Ernst Conzelmann, Detlev Schindler
Publikováno v:
Journal of Lipid Research, Vol 43, Iss 7, Pp 1096-1104 (2002)
Skin fibroblast cultures from patients with inherited lysosomal enzymopathies, α-N-acetylgalactosaminidase (α-NAGA) and α-galactosidase A deficiencies (Schindler and Fabry disease, respectively), and from normal controls were used to study in situ
Externí odkaz:
https://doaj.org/article/c40bae8d87c041ce92093cd2ec7ac868
Autor:
Befekadu Asfaw, Detlev Schindler, Jana Ledvinová, Bohuslav Černý, František Šmíd, Ernst Conzelmann
Publikováno v:
Journal of Lipid Research, Vol 39, Iss 9, Pp 1768-1780 (1998)
The degradation of blood group glycolipid A-6-2 (GalNAc(α1→3)[Fucα1→2]Gal(β1→4)GlcNAc(β1→3)Gal (β1→4)Glc(β1→1′)Cer, IV2-α-fucosyl-IV3-α-N-acetylgalactosaminylneolactotetraosylceramide), tritium-labeled in its ceramide moiety, wa
Externí odkaz:
https://doaj.org/article/8088a3a6405244769fae3cf30f62f53d
Autor:
Filip Majer, Befekadu Asfaw, Ladislav Kuchař, Dita Mušálková, Lenka Steiner‐Mrázová, Robert Dobrovolný, Jana Ledvinová, Martin Hřebíček
Publikováno v:
Journal of Inherited Metabolic Disease. 45:584-592
Deuterium-labeled cholesterol-dextran particles (d4-CholDex), prepared by co-precipitation, were internalized by cultured human skin fibroblasts and HEK293 cells. Subcellular particles from d4-CholDex-treated HEK293 cells were fractionated on iodixan
Autor:
Martina Živná, Gabriela Dostálová, Veronika Barešová, Dita Mušálková, Ladislav Kuchař, Befekadu Asfaw, Helena Poupětová, Hana Vlášková, Tereza Kmochová, Petr Vyletal, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Lenka Steiner-Mrázová, Aleš Hnízda, Martin Radina, Miroslav Votruba, Jana Sovová, Helena Trešlová, Larisa Stolnaja, Petra Reková, Lenka Roblová, Eva Honsová, Helena Hůlková, Ivan Rychlík, Anthony J. Bleyer, Aleš Linhart, Jakub Sikora, Stanislav Kmoch
BackgroundClassic Fabry disease (FD) is caused by GLA mutations that result in enzymatic deficiency of alpha-galactosidase A (AGAL), lysosomal storage of globotriaosylceramide, and a resulting multisystemic disease. In non-classic later-onset FD, pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3ede51a9102b69783bdeaf4b7f83cc9
https://hdl.handle.net/20.500.14178/1711
https://hdl.handle.net/20.500.14178/1711
Autor:
Vera Malinova, Ladislav Kuchar, Helena Jahnová, Befekadu Asfaw, Maria Gulinello, Jakub Sikora, Helena Poupetova, A. Lugowska, Jana Ledvinová
Publikováno v:
Analytical Biochemistry. 525:73-77
Acid sphingomyelinase deficiency (ASMd, Niemann-Pick disease A/B) and Niemann-Pick type C disease (NPC) share core clinical symptoms. Initial diagnostic discrimination of these two rare lysosomal storage diseases is thus difficult. As sphingomyelin a
Autor:
Michael Volny, Robert J. Desnick, Vladimír Havlíček, Befekadu Asfaw, Martin Strohalm, Lenka Kryspinova, Ladislav Kuchar, Jitka Rybova, Helena Faltyskova, Helena Hulkova, Lukas Krasny, Karel Lemr, Robert Dobrovolny, Jana Ledvinová
Publikováno v:
Analytical and Bioanalytical Chemistry. 407:2283-2291
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 globotriaosylceramide (Gb3) and related lipids primarily in blood vessels, kidney, heart, and o
Autor:
Ludovit Skultety, Helena Hulkova, Vladimír Havlíček, Robert Dobrovolný, Ladislav Kuchar, Jitka Rybová, Befekadu Asfaw, Jana Ledvinová, Jakub Sikora
Publikováno v:
Glycobiology. 28(6)
Blood group B glycosphingolipids (B-GSLs) are substrates of the lysosomal alpha-galactosidase A (AGAL). Similar to its major substrate-globotriaosylceramide (Gb3Cer)-B-GSLs are not degraded and accumulate in the cells of patients affected by an inher
In recent years, mass spectrometry (MS) has become the dominant technology in lipidomic analysis. It is widely used in diagnosis and research of lipid metabolism disorders including those characterized by impairment of lysosomal functions and storage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c59b23efa687364939e1e91be043e729
https://doi.org/10.1016/bs.acc.2016.06.004
https://doi.org/10.1016/bs.acc.2016.06.004
Autor:
Daniel Horák, Ladislav Kuchař, Lucie Korecká, Jana Ledvinová, Zuzana Bílková, J. Rotková, Befekadu Asfaw, Jiří Lenfeld
Publikováno v:
Rapid Communications in Mass Spectrometry. 24:2393-2399
Sphingolipid ceramide N-deacylase (SCDase, EC 3.5.1.69) is a hydrolytic enzyme isolated from Pseudomonas sp. TK 4. In addition to its primary deacylation function, this enzyme is able to reacylate lyso-sphingolipids under specific conditions. We immo