Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Martin Hřebíček"'
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:
Dita Musalkova, Martin Hřebíček, Filip Majer, Ladislav Kuchař, Helena Jahnová, Lenka Dvořáková, Jana Ledvinová
Publikováno v:
Česká a slovenská neurologie a neurochirurgie. :263-268
Autor:
James E. Wraith, Lenka Mrázová, Helen Michelakakis, Rachel Laframboise, Otto P. van Diggelen, Stanislav Kmoch, Matthew Feldhammer, Alexey V. Pshezhetsky, Stéphanie Durand, Robert Steinfeld, Martin Hřebíček, Renee Myriam Boucher
Publikováno v:
Human Mutation, 30(6), 918-925. Wiley-Liss Inc.
Mucopolysaccharidosis (MPS) type IIIC or Sanfilippo syndrome type C is a rare autosomal recessive disorder caused by the deficiency of the lysosomal membrane enzyme, heparan sulfate acetyl-CoA (AcCoA): alpha-glucosaminide N,acetyltransferase (HGSNAT;
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
Autor:
Linda Berná, Martin Hřebíček, Helena Poupětová, Volkmar Gieselmann, Milan Elleder, Jana Ledvinová
Publikováno v:
American Journal of Medical Genetics Part A. :277-281
Metachromatic leukodystrophy (MLD) is an inherited demyelinating disorder caused by the deficiency of arylsulphatase A (ASA). This defect leads to an accumulation of galactosylceramide I3-sulphates (sulphatides) in lysosomes of different tissues. We
Autor:
Jan Sperl, Jiří Bronský, Lenka Dvořáková, Martin Hřebíček, Jiří Nevoral, Milan Jirsa, Horák J, Vít Šmajstrla
AIM: To investigate the contribution of ABCB4 mutations to pediatric idiopathic gallstone disease and the potential of hormonal contraceptives to prompt clinical manifestations of multidrug resistance protein 3 deficiency. METHODS: Mutational analysi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a45799796bcc395c1e938a9f32dbd941
https://europepmc.org/articles/PMC4024796/
https://europepmc.org/articles/PMC4024796/
Autor:
Markéta Červenková, Lenka Vepřeková, Lenka Mrázová, Jiří Zeman, Martin Hřebíček, Kateřina Hodaňová
Publikováno v:
Blood Cells, Molecules, and Diseases. 25:287-298
ABSTRACT: The aim of this study was to characterize the spectrum of β-glucocerebrosidase gene mutations in Czech and Slovak Gaucher patients and to study genotype/phenotype associations. We have analyzed fifty-eight chromosomes from twenty-six type
Autor:
Martin Hřebíček, A.S. Knisely, Dirk R. de Waart, Eva Sticova, Els Wagenaar, Anita van Esch, Viktor Stránecký, Lenka Nosková, Alfred H. Schinkel, Kathryn E. Kenworthy, Stanislav Kmoch, Mohammad al-Edreesi, Ronald P.J. Oude Elferink, Hana Hartmannová, Evita van de Steeg, Milan Jirsa
Publikováno v:
Journal of clinical investigation, 122(2), 519-528. The American Society for Clinical Investigation
Journal of Clinical Investigation, 2, 122, 2012, 519-528
Journal of Clinical Investigation, 2, 122, 2012, 519-528
Bilirubin, a breakdown product of heme, is normally glucuronidated and excreted by the liver into bile. Failure of this system can lead to a buildup of conjugated bilirubin in the blood, resulting in jaundice. The mechanistic basis of bilirubin excre
Autor:
Ondřej Lukšan, Jitka Eberova, Eva Svobodová, Deborah Elstein, Milan Jirsa, Ari Zimran, Lenka Dvořáková, Martin Hřebíček, Jakub Minks, Lenka Mrázová, Larisa Stolnaya
Publikováno v:
Blood cells, moleculesdiseases. 46(3)
Database searches have shown that a part of glucocerebrosidase ( GBA ) transcripts may originate at an alternative upstream promoter (P2) located 2.6 kb upstream of the known (P1) GBA promoter. The putative alternative transcripts contained one or tw
Autor:
Martin Hřebíček, Jana Ledvinová
Publikováno v:
Fabry Disease ISBN: 9789048190324
Fabry disease is a sphingolipid storage disorder resulting from a deficiency of the lysosomal hydrolase, α-galactosidase A. The deficiency leads to lysosomal accumulation of α-galactosidase A substrates, neutral glycosphingolipids with terminal α-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::111875d3ba925aa2725ed17683bbf29d
https://doi.org/10.1007/978-90-481-9033-1_4
https://doi.org/10.1007/978-90-481-9033-1_4