Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver
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Published in The Journal of clinical investigation (01.02.2012)
Published in The Journal of clinical investigation (01.02.2012)
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Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model
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Published in Brain (London, England : 1878) (01.02.2015)
Published in Brain (London, England : 1878) (01.02.2015)
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Consensus clinical management guidelines for Niemann-Pick disease type C
Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T, Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, Stampfer, Miriam, Imrie, Jackie, Hendriksz, Christian, Gissen, Paul, Crushell, Ellen, Coll, Maria J, Nadjar, Yann, Klünemann, Hans, Mengel, Eugen, Hrebicek, Martin, Jones, Simon A, Ory, Daniel, Bembi, Bruno, Patterson, Marc
Published in Orphanet journal of rare diseases (06.04.2018)
Published in Orphanet journal of rare diseases (06.04.2018)
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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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Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene
Feldhammer, Matthew, Durand, Stéphanie, Mrázová, Lenka, Boucher, Renée-Myriam, Laframboise, Rachel, Steinfeld, Robert, Wraith, James E, Michelakakis, Helen, van Diggelen, Otto P, Hřebíček, Martin, Kmoch, Stanislav, Pshezhetsky, Alexey V
Published in Human mutation (01.06.2009)
Published in Human mutation (01.06.2009)
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Effect of Miglustat on Bone Disease in Adults with Type 1 Gaucher Disease: A Pooled Analysis of Three Multinational, Open-Label Studies
Pastores, Gregory M., MD, Elstein, Deborah, PhD, Hrebícek, Martin, PhD, Zimran, Ari, MD
Published in Clinical therapeutics (01.08.2007)
Published in Clinical therapeutics (01.08.2007)
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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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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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Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
Hřebíček, Martin, Mrázová, Lenka, Seyrantepe, Volkan, Durand, Stéphanie, Roslin, Nicole M., Nosková, Lenka, Hartmannová, Hana, Ivánek, Robert, Čížková, Alena, Poupětová, Helena, Sikora, Jakub, Uřinovská, Jana, Stránecký, Viktor, Zeman, Jiří, Lepage, Pierre, Roquis, David, Verner, Andrei, Ausseil, Jérôme, Beesley, Clare E., Maire, Irène, Poorthuis, Ben J.H.M., van de Kamp, Jiddeke, van Diggelen, Otto P., Wevers, Ron A., Hudson, Thomas J., Fujiwara, T. Mary, Majewski, Jacek, Morgan, Kenneth, Kmoch, Stanislav, Pshezhetsky, Alexey V.
Published in American journal of human genetics (01.11.2006)
Published in American journal of human genetics (01.11.2006)
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Mouse model of MPS III type C defines pathophysiology of the disease
Pshezhetsky, Alexey, Martins, Carla, Grigoryeva, Lubov, Dridy, Larbi, Dormoy-Raclet, Virginie, Di Cristo, Graziella, Bigger, Brian, Ausseil, Jerome Ausseil, lková, Helena H. lková H., Hrebícek, Martin Hrebícek
Published in Molecular genetics and metabolism (01.02.2013)
Published in Molecular genetics and metabolism (01.02.2013)
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Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid α-glucosidase in Caenorhabditis elegans
Sikora, Jakub, Uřinovská, Jana, Majer, Filip, Poupětová, Helena, Hlavatá, Jitka, Kostrouchová, Marta, Ledvinová, Jana, Hřebíček, Martin
Published in Molecular and cellular biochemistry (01.08.2010)
Published in Molecular and cellular biochemistry (01.08.2010)
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Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes
Svobodová, Eva, Mrázová, Lenka, Lukšan, Ondřej, Elstein, Deborah, Zimran, Ari, Stolnaya, Larisa, Minks, Jakub, Eberová, Jitka, Dvořáková, Lenka, Jirsa, Milan, Hřebíček, Martin
Published in Blood cells, molecules, & diseases (15.03.2011)
Published in Blood cells, molecules, & diseases (15.03.2011)
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Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump
Hřebíček, Martin, Jirásek, Tomáš, Hartmannová, Hana, Nosková, Lenka, Stránecký, Viktor, Ivánek, Robert, Kmoch, Stanislav, Cebecauerová, Dita, Vítek, Libor, Mikulecký, Miroslav, Subhanová, Iva, Hozák, Pavel, Jirsa, Milan
Published in Liver international (01.05.2007)
Published in Liver international (01.05.2007)
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Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein
Vazna, Alzbeta, Beesley, Clare, Berna, Linda, Stolnaja, Larisa, Myskova, Helena, Bouckova, Michaela, Vlaskova, Hana, Poupetova, Helena, Zeman, Jiri, Magner, Martin, Hlavata, Anna, Winchester, Bryan, Hrebicek, Martin, Dvorakova, Lenka
Published in American journal of medical genetics. Part A (01.05.2009)
Published in American journal of medical genetics. Part A (01.05.2009)
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Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid [alpha]-glucosidase in Caenorhabditis elegans
Sikora, Jakub, Urinovska, Jana, Majer, Filip, Poupetova, Helena, Hlavata, Jitka, Kostrouchova, Marta, Ledvinova, Jana, Hrebicek, Ma
Published in Molecular and cellular biochemistry (01.08.2010)
Published in Molecular and cellular biochemistry (01.08.2010)
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Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome
Cebecauerova, Dita, Jirasek, Tomas, Budisova, Lucie, Mandys, Vaclav, Volf, Vladimir, Novotna, Zorka, Subhanova, Iva, Hrebicek, Martin, Elleder, Milan, Jirsa, Milan
Published in Gastroenterology (New York, N.Y. 1943) (01.07.2005)
Published in Gastroenterology (New York, N.Y. 1943) (01.07.2005)
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Recurrence of Fabry disease as a result of paternal germline mosaicism for α‐galactosidase a gene mutation
Dobrovolný, Robert, Dvořáková, Lenka, Ledvinová, Jana, Magage, Sudheera, Bultas, Jan, Lubanda, Jean C., Poupětová, Helena, Elleder, Milan, Karetová, Debora, Hřebíček, Martin
Published in American journal of medical genetics. Part A (01.04.2005)
Published in American journal of medical genetics. Part A (01.04.2005)
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Chitotriosidase, a chitinase, and the 39‐kDa human cartilage glycoprotein, a chitin‐binding lectin, are homologues of family 18 glycosyl hydrolases secreted by human macrophages
Renkema, G. Herma, Boot, Rolf G., Au, Fung Lin, Donker‐Koopman, Wilma E., Strijland, Anneke, Muijsers, Anton O., Hrebicek, Martin, Aerts, Johannes M. F. G.
Published in European journal of biochemistry (15.01.1998)
Published in European journal of biochemistry (15.01.1998)
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