Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Robert Dobrovolný"'
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:
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
Autor:
Jana Ledvinová, Robert Dobrovolný, Helena Poupětová, Jana Keslová-Veselíková, Befekadu Asfaw, Lubor Goláň, Jakub Sikora, Helena Hůlková, Milan Elleder, Linda Berná
Publikováno v:
Virchows Archiv
The function and intracellular delivery of enzyme therapeutics for Fabry disease were studied in cultured fibroblasts and in the biopsied tissues of two male patients to show diversity of affected cells in response to treatment. In the mutant fibrobl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfddc2367ed0c42db197b2af70c1729e
https://doi.org/10.1007/s00428-008-0586-9
https://doi.org/10.1007/s00428-008-0586-9
Autor:
Romana Rysava, Dita Maixnerova, Doris Sobotova, Jiří Motáň, Jan Bultas, Robert Dobrovolný, Jana Smrzova, Vladimír Tesař, Jitka Slivkova, Jana Reiterova, Jana Ledvinová, Miroslav Merta, Helena Poupětová
Publikováno v:
Nephrology Dialysis Transplantation. 22:179-186
Background. Fabry disease (FD) is a genetic disorder characterized by accumulation of trihexosylceramide in lysosomes of various tissues leading to multiorgan manifestations, including progressive renal disease. Previous screening studies have shown
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25c0466f719a2d7d806a2f5b1abc20ce
https://doi.org/10.1093/ndt/gfl528
https://doi.org/10.1093/ndt/gfl528
Autor:
Martin Hřebíček, Robert Dobrovolný, Debora Karetová, Lenka Dvořáková, Jan Bultas, Sudheera Magage, Milan Elleder, Jana Ledvinová, Jean C. Lubanda, Helena Poupětová
Publikováno v:
American Journal of Medical Genetics Part A. :84-87
We present two sisters with a severe form of Fabry disease, who both carry the same mutation in the alpha-galactosidase A (alpha-gal A) gene (Q330X). Each of the sisters developed renal failure in the third decade of life; the older sibling underwent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::28d81dff652e28db10a4bdcafcb5f0c5
https://doi.org/10.1002/ajmg.a.30533
https://doi.org/10.1002/ajmg.a.30533
Autor:
Martin Hřebíček, Debora Karetová, Jan Bultas, Robert Dobrovolný, Aleš Linhart, Dominique P. Germain, Sudheera Magage, Susa Z, Lubanda Jc
Publikováno v:
Journal of inherited metabolic disease. 30(5)
Anderson-Fabry disease (AFD) is an X-linked disorder caused by deficient activity of enzyme alpha-galactosidase A, resulting in the accumulation of glycosphingolipids within lysosomes. Pulmonary involvement in AFD has previously been documented, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca7c5e31ff27717359f1ee19f03bf327
https://pubmed.ncbi.nlm.nih.gov/17619837
https://pubmed.ncbi.nlm.nih.gov/17619837
Autor:
Robert, Dobrovolný, Lenka, Dvoráková, Jana, Ledvinová, Sudheera, Magage, Jan, Bultas, Jean C, Lubanda, Helena, Poupetová, Milan, Elleder, Debora, Karetová, Martin, Hrebícek
Publikováno v:
American journal of medical genetics. Part A. (1)
We present two sisters with a severe form of Fabry disease, who both carry the same mutation in the alpha-galactosidase A (alpha-gal A) gene (Q330X). Each of the sisters developed renal failure in the third decade of life; the older sibling underwent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e809810b4b8bad0ab40982ac692e1c61
https://pubmed.ncbi.nlm.nih.gov/15712198
https://pubmed.ncbi.nlm.nih.gov/15712198
Autor:
Jana, Hujová, Jakub, Sikora, Robert, Dobrovolný, Helena, Poupetová, Jana, Ledvinová, Marta, Kostrouchová, Martin, Hrebícek
Publikováno v:
BMC Cell Biology
Human alpha-galactosidase A (alpha-GAL) and alpha-N-acetylgalactosaminidase (alpha-NAGA) are presumed to share a common ancestor. Deficiencies of these enzymes cause two well-characterized human lysosomal storage disorders (LSD)--Fabry (alpha-GAL def
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5c04fe916c777a7c7c54f873ac9dd2d5
https://pubmed.ncbi.nlm.nih.gov/15676072
https://pubmed.ncbi.nlm.nih.gov/15676072
Autor:
Marta Kostrouchová, Robert Dobrovolný, Helena Poupětová, Jakub Sikora, Martin Hřebíček, Jana Hujová, Jana Ledvinová
Publikováno v:
BMC Cell Biology. 6:5
Human α-galactosidase A (α-GAL) and α-N-acetylgalactosaminidase (α-NAGA) are presumed to share a common ancestor. Deficiencies of these enzymes cause two well-characterized human lysosomal storage disorders (LSD) – Fabry (α-GAL deficiency) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a225cbaacbf4d698a382c7e28fa3ada5
https://doi.org/10.1186/1471-2121-6-5
https://doi.org/10.1186/1471-2121-6-5