Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency
Yu, Fabian P.S., Molino, Salvatore, Sikora, Jakub, Rasmussen, Shauna, Rybova, Jitka, Tate, Everett, Geurts, Aron M., Turner, Patricia V., Mckillop, William M., Medin, Jeffrey A.
Published in Laboratory investigation (01.10.2019)
Published in Laboratory investigation (01.10.2019)
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Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions
Kleynerman, Annie, Rybova, Jitka, Faber, Mary L, McKillop, William M, Levade, Thierry, Medin, Jeffrey A
Published in Biomolecules (Basel, Switzerland) (01.02.2023)
Published in Biomolecules (Basel, Switzerland) (01.02.2023)
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Autologous, lentivirus‐modified, T‐rapa cell “micropharmacies” for lysosomal storage disorders
Nagree, Murtaza S, Felizardo, Tania C, Faber, Mary L, Rybova, Jitka, Rupar, C Anthony, Foley, S Ronan, Fuller, Maria, Fowler, Daniel H, Medin, Jeffrey A
Published in EMBO molecular medicine (07.04.2022)
Published in EMBO molecular medicine (07.04.2022)
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Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency
Nagree, Murtaza S., Rybova, Jitka, Kleynerman, Annie, Ahrenhoerster, Carissa J., Saville, Jennifer T., Xu, TianMeng, Bachochin, Maxwell, McKillop, William M., Lawlor, Michael W., Pshezhetsky, Alexey V., Isaeva, Olena, Budde, Matthew D., Fuller, Maria, Medin, Jeffrey A.
Published in Communications biology (25.05.2023)
Published in Communications biology (25.05.2023)
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Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II
Rybová, Jitka, Ledvinová, Jana, Sikora, Jakub, Kuchař, Ladislav, Dobrovolný, Robert
Published in Journal of inherited metabolic disease (01.03.2018)
Published in Journal of inherited metabolic disease (01.03.2018)
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Specific storage of glycoconjugates with terminal α-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B
Rybová, Jitka, Kuchar, Ladislav, Hulková, Helena, Asfaw, Befekadu, Dobrovolný, Robert, Sikora, Jakub, Havlícek, Vladimír, Škultéty, Ludovít, Ledvinová, Jana
Published in Glycobiology (Oxford) (01.06.2018)
Published in Glycobiology (Oxford) (01.06.2018)
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Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging
Kuchar, Ladislav, Faltyskova, Helena, Krasny, Lukas, Dobrovolny, Robert, Hulkova, Helena, Ledvinova, Jana, Volny, Michael, Strohalm, Martin, Lemr, Karel, Kryspinova, Lenka, Asfaw, Befekadu, Rybová, Jitka, Desnick, Robert J., Havlicek, Vladimir
Published in Analytical and bioanalytical chemistry (01.03.2015)
Published in Analytical and bioanalytical chemistry (01.03.2015)
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Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency
Rybova, Jitka, Sundararajan, Teresa, Kuchar, Ladislav, Dlugi, Theresa A., Ruzicka, Petr, McKillop, William M., Medin, Jeffrey A.
Published in Molecular therapy (02.10.2024)
Published in Molecular therapy (02.10.2024)
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Inherited monogenic defects of ceramide metabolism: Molecular bases and diagnoses
Dubot, Patricia, Sabourdy, Frédérique, Rybova, Jitka, Medin, Jeffrey, Levade, Thierry
Published in Clinica chimica acta (01.08.2019)
Published in Clinica chimica acta (01.08.2019)
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Inherited monogenic defects of ceramide metabolism: Molecular bases and diagnoses
Dubot, Patricia, Sabourdy, Frédérique, Rybova, Jitka, Medin, Jeffrey A., Levade, Thierry
Published in Clinica chimica acta (01.08.2019)
Published in Clinica chimica acta (01.08.2019)
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Fabry disease: renal sphingolipid distribution in the [alpha]-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging
Kuchar, Ladislav, Faltyskova, Helena, Krasny, Lukas, Dobrovolny, Robert, Hulkova, Helena, Ledvinova, Jana, Volny, Michael, Strohalm, Ma, Lemr, Karel, Kryspinova, Lenka, Asfaw, Befekadu, Rybova, Jitka, Desnick, Robert J, Havlicek, Vladimir
Published in Analytical and bioanalytical chemistry (01.03.2015)
Published in Analytical and bioanalytical chemistry (01.03.2015)
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