Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Jana Ledvinová"'
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eaa8b1c59c2679c52e8a53a46bbc987
https://doi.org/10.1002/jimd.12481
https://doi.org/10.1002/jimd.12481
Autor:
Dita Musalkova, Martin Hřebíček, Filip Majer, Ladislav Kuchař, Helena Jahnová, Lenka Dvořáková, Jana Ledvinová
Publikováno v:
Česká a slovenská neurologie a neurochirurgie. :263-268
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc02dac7c52b0461c9e22c2c8c2fee56
https://doi.org/10.14735/amcsnn2020263
https://doi.org/10.14735/amcsnn2020263
Autor:
Jakub Sikora, Ladislav Kuchar, Steven U. Walkley, Lauren C. Boudewyn, Shirley L. Wang, Kostantin Dobrenis, Jana Ledvinová, Yulia Grishchuk
Publikováno v:
Neurobiology of Disease, Vol 105, Iss, Pp 257-270 (2017)
Mucolipidosis type IV (MLIV) is a lysosomal storage disease exhibiting progressive intellectual disability, motor impairment, and premature death. There is currently no cure or corrective treatment. The disease results from mutations in the gene enco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53587fd575ba2abd6c2d0363a6cb9cd6
https://doi.org/10.1016/j.nbd.2017.06.003
https://doi.org/10.1016/j.nbd.2017.06.003
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::907a5cf2b5627369faf1680595a8b8d5
https://doi.org/10.1016/j.ab.2017.02.019
https://doi.org/10.1016/j.ab.2017.02.019
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff69e2cd62c3c2f9cbc899ca2c1679b0
https://doi.org/10.1007/s00216-014-8402-7
https://doi.org/10.1007/s00216-014-8402-7
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::053370cf1d5e94c4f93aad0926459b17
https://pubmed.ncbi.nlm.nih.gov/29548035
https://pubmed.ncbi.nlm.nih.gov/29548035
Publikováno v:
Journal of inherited metabolic disease. 41(2)
Mucopolysaccharidosis type II (MPSII) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene (IDS, Xq28). MPSII is characterized by skeletal deformities, hearing loss, airway obstruction, hepatosplen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6439141864c76f724a5cbe28c794197e
https://pubmed.ncbi.nlm.nih.gov/29168031
https://pubmed.ncbi.nlm.nih.gov/29168031
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
