檢索結果 - Jakub Sikora

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  1. 1
    Lysosomal Membrane Permeability Stimulates Protein Aggregate Formation in Neurons of a Lysosomal Disease

    Lysosomal Membrane Permeability Stimulates Protein Aggregate Formation in Neurons of a Lysosomal Disease 由 Matthew C. Micsenyi, Jakub Sikora, Gloria Stephney, Kostantin Dobrenis, Steven U. Walkley

    出版 2013
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  2. 2
    Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency

    Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency 由 Veronika Barešová, Václava Škopová, Jakub Sikora, David Patterson, Jana Sovová, Marie Zikánová, Stanislav Kmoch

    出版 2011
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  3. 3
    Health-Promoting Properties of Fresh and Processed Purple Cauliflower

    Health-Promoting Properties of Fresh and Processed Purple Cauliflower 由 Joanna Kapusta‐Duch, Anna Szeląg-Sikora, Jakub Sikora, Marcin Niemiec, Zofia Gródek-Szostak, Maciej Kuboń, Teresa Leszczyńska, Barbara Borczak

    出版 2019
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  4. 4
    Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment

    Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment 由 Kenneth N. Maclean, Jakub Sikora, Viktor Kožich, Hua Jiang, Lori S. Greiner, Eva Kraus, Jakub Krijt, Linda S. Crnic, Robert H. Allen, Sally P. Stabler, M. Elleder, Jan P. Kraus

    出版 2010
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  5. 5
    Efficacy and ototoxicity of different cyclodextrins in Niemann–Pick C disease

    Efficacy and ototoxicity of different cyclodextrins in Niemann–Pick C disease 由 Cristin Davidson, Yonatan I. Fishman, István Puskás, Julianna Szemán, Tamás Sohajda, Leslie A. McCauliff, Jakub Sikora, Judith Storch, Marie T. Vanier, Lajos Szente, Steven U. Walkley, Kostantin Dobrenis

    出版 2016
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  6. 6
    Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome

    Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome 由 Petr Vyleťal, Martina Kublová, Marie Hubálek Kalbáčová, Kateřina Hodaňová, Veronika Barešová, Blanka Stibůrková, Jakub Sikora, Helena Hůlková, J Živný, Jacek Majewski, Anne Simmonds, J. P. Fryns, Gopalakrishnan Venkat‐Raman, M. Elleder, Stanislav Kmoch

    出版 2006
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  7. 7
    A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele

    A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele 由 Maria Praggastis, Brett A. Tortelli, Jessie Zhang, Hideji Fujiwara, Rohini Sidhu, Anita Chacko, Zhouji Chen, Chan Chung, Andrew P. Lieberman, Jakub Sikora, Cristin Davidson, Steven U. Walkley, Nina H. Pipalia, Frederick R. Maxfield, Jean E. Schaffer, Daniel S. Ory

    出版 2015
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  8. 8
    A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment

    A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine... 由 Kenneth N. Maclean, Jakub Sikora, Viktor Kožich, Hua Jiang, Lori S. Greiner, Eva Kraus, Jakub Krijt, Katherine H. Overdier, Renata Collard, Gary Brodsky, Lynne Meltesen, Linda S. Crnic, Robert H. Allen, Sally P. Stabler, M. Elleder, Rima Rozen, David Patterson, Jan P. Kraus

    出版 2010
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  9. 9
    Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities

    Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities 由 Jakub Sikora, Shaalee Dworski, E. Ellen Jones, Mustafa A. Kamani, Matthew C. Micsenyi, Tomo Sawada, Pauline Le Faouder, Justine Bertrand‐Michel, Aude Dupuy, Christopher K. Dunn, Ingrid Cong Yang Xuan, Josefina Casas, Gemma Fabriàs, David R. Hampson, Thierry Levade, Richard R. Drake, Jeffrey A. Medin, Steven U. Walkley

    出版 2017
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  10. 10
    Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

    Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure 由 Martina Živná, Helena Hůlková, Marie Matignon, Kateřina Hodaňová, Petr Vyleťal, Marie Hubálek Kalbáčová, Veronika Barešová, Jakub Sikora, Hana Blažková, J Živný, Robert Ivánek, Viktor Stránecký, Jana Sovová, Kathleen Claes, Evelyne Lerut, Jean‐Pierre Fryns, P. Suzanne Hart, Thomas C. Hart, Jeremy N. Adams, Audrey Pawtowski, Maud Clemessy, Jean-Marie Gasc, Marie‐Claire Gubler, Corinne Antignac, M. Elleder, Katja Kapp, Philippe Grimbert, Anthony J. Bleyer, Stanislav Kmoch

    出版 2009
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  11. 11
    Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

    Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) 由 Martin Hřebı́ček, Lenka Mrázová, Volkan Seyrantepe, Stéphanie Durand, Nicole M. Roslin, Lenka Nosková, Hana Hartmannová, Robert Ivánek, Alena Čížková, Helena Poupětová, Jakub Sikora, Jana Uřinovská, Viktor Stránecký, J Zeman, Pierre Lepage, David Roquis, Andrei Verner, Jérôme Ausseil, Clare Beesley, Irène Maire, Ben J. H. M. Poorthuis, Jiddeke van de Kamp, Otto P. van Diggelen, Ron A. Wevers, Thomas J. Hudson, Takuya Fujiwara, Jacek Majewski, Kenneth Morgan, Stanislav Kmoch, Alexey V. Pshezhetsky

    出版 2006
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