Medical College of Wisconsin
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Jitka Rybova

Research Scientist I

Institution: Medical College of Wisconsin
Department: Microbiology and Immunology

Publications (11)

  • Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency. (Nagree MS, Rybova J, Kleynerman A, Ahrenhoerster CJ, Saville JT, Xu T, Bachochin M, McKillop WM, Lawlor MW, Pshezhetsky AV, Isaeva O, Budde MD, Fuller M, Medin JA) Commun Biol 2023 May 25;6(1):560 PMID: 37231125 PMCID: PMC10212955 SCOPUS ID: 2-s2.0-85160222255 05/26/2023       8 Citations
  • Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions. (Kleynerman A, Rybova J, Faber ML, McKillop WM, Levade T, Medin JA) Biomolecules 2023 Feb 01;13(2) PMID: 36830643 PMCID: PMC9953133 SCOPUS ID: 2-s2.0-85148964076 02/26/2023       14 Citations
  • Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency. (Rybova J, Kuchar L, Sikora J, McKillop WM, Medin JA) J Inherit Metab Dis 2022 Nov;45(6):1175-1190 PMID: 36083604 PMCID: PMC9826362 SCOPUS ID: 2-s2.0-85138302520 09/10/2022       7 Citations
  • Autologous, lentivirus-modified, T-rapa cell "micropharmacies" for lysosomal storage disorders. (Nagree MS, Felizardo TC, Faber ML, Rybova J, Rupar CA, Foley SR, Fuller M, Fowler DH, Medin JA) EMBO Mol Med 2022 Apr 07;14(4):e14297 PMID: 35298086 PMCID: PMC8988206 SCOPUS ID: 2-s2.0-85126359673 03/18/2022       9 Citations
  • Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency. (Yu FPS, Molino S, Sikora J, Rasmussen S, Rybova J, Tate E, Geurts AM, Turner PV, Mckillop WM, Medin JA) Lab Invest 2019 Oct;99(10):1572-1592 PMID: 31186526 SCOPUS ID: 2-s2.0-85067402206 06/13/2019       14 Citations
  • Inherited monogenic defects of ceramide metabolism: Molecular bases and diagnoses. (Dubot P, Sabourdy F, Rybova J, Medin JA, Levade T) Clin Chim Acta 2019 Aug;495:457-466 PMID: 31128082 SCOPUS ID: 2-s2.0-85066236001 05/28/2019       2 Citations
  • Specific storage of glycoconjugates with terminal α-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B. (Rybová J, Kuchar L, Hulková H, Asfaw B, Dobrovolný R, Sikora J, Havlícek V, Škultéty L, Ledvinová J) Glycobiology 2018 Jun 01;28(6):382-391 PMID: 29548035 SCOPUS ID: 2-s2.0-85048003570 03/17/2018       6 Citations
  • Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II. (Rybová J, Ledvinová J, Sikora J, Kuchař L, Dobrovolný R) J Inherit Metab Dis 2018 Mar;41(2):221-229 PMID: 29168031 SCOPUS ID: 2-s2.0-85034627520 11/24/2017       19 Citations
  • Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses. (Kuchař L, Asfaw B, Rybová J, Ledvinová J) Adv Clin Chem 2016;77:177-219 PMID: 27717417 SCOPUS ID: 2-s2.0-85004008293 10/09/2016       10 Citations
  • X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female. (Řeboun M, Rybová J, Dobrovolný R, Včelák J, Veselková T, Štorkánová G, Mušálková D, Hřebíček M, Ledvinová J, Magner M, Zeman J, Pešková K, Dvořáková L) Folia Biol (Praha) 2016;62(2):82-9 PMID: 27187040 SCOPUS ID: 2-s2.0-84971578947 05/18/2016       23 Citations
  • Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging. (Kuchar L, Faltyskova H, Krasny L, Dobrovolny R, Hulkova H, Ledvinova J, Volny M, Strohalm M, Lemr K, Kryspinova L, Asfaw B, Rybová J, Desnick RJ, Havlicek V) Anal Bioanal Chem 2015 Mar;407(8):2283-91 PMID: 25542581 SCOPUS ID: 2-s2.0-85027934289 12/30/2014       18 Citations
    • Last update: 06/27/2024