Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin

Por Sikora, Jakub, Harzer, Klaus, Elleder, Milan
Publicado em 2006

X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities

Por Sikora, Jakub, Leddy, Jennifer, Gulinello, Maria, Walkley, Steven U.
Publicado no Dis Model Mech (2016)

Lysosomal Compromise and Brain Dysfunction: Examining the Role of Neuroaxonal Dystrophy

Por Walkley, Steven U., Sikora, Jakub, Micsenyi, Matthew, Davidson, Cristin, Dobrenis, Kostantin
Publicado no Biochem Soc Trans (2010)

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

Por Micsenyi, Matthew C., Sikora, Jakub, Stephney, Gloria, Dobrenis, Kostantin, Walkley, Steven U.
Publicado em 2013

Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate α-galactosidase and α-N-acetylgalactosaminidase

Por Hujová, Jana, Sikora, Jakub, Dobrovolný, Robert, Poupětová, Helena, Ledvinová, Jana, Kostrouchová, Marta, Hřebíček, Martin
Publicado em 2005

Replacement of α-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients

Por Keslová-Veselíková, Jana, Hůlková, Helena, Dobrovolný, Robert, Asfaw, Befekadu, Poupětová, Helena, Berná, Linda, Sikora, Jakub, Goláň, Lubor, Ledvinová, Jana, Elleder, Milan
Publicado em 2008

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

Por Maclean, Kenneth N., Sikora, Jakub, Kožich, Viktor, Jiang, Hua, Greiner, Lori S., Kraus, Eva, Krijt, Jakub, Crnic, Linda S., Allen, Robert H., Stabler, Sally P., Elleder, Milan, Kraus, Jan P.
Publicado em 2010

Efficacy and ototoxicity of different cyclodextrins in Niemann–Pick C disease

Por Davidson, Cristin D., Fishman, Yonatan I., Puskás, István, Szemán, Julianna, Sohajda, Tamás, McCauliff, Leslie A., Sikora, Jakub, Storch, Judith, Vanier, Marie T., Szente, Lajos, Walkley, Steven U., Dobrenis, Kostantin
Publicado no Ann Clin Transl Neurol (2016)

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

Por Praggastis, Maria, Tortelli, Brett, Zhang, Jessie, Fujiwara, Hideji, Sidhu, Rohini, Chacko, Anita, Chen, Zhouji, Chung, Chan, Lieberman, Andrew P., Sikora, Jakub, Davidson, Cristin, Walkley, Steven U., Pipalia, Nina H., Maxfield, Frederick R., Schaffer, Jean E., Ory, Daniel S.
Publicado no J Neurosci (2015)

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...

Por Maclean, Kenneth N., Sikora, Jakub, Kožich, Viktor, Jiang, Hua, Greiner, Lori S., Kraus, Eva, Krijt, Jakub, Overdier, Katherine H., Collard, Renata, Brodsky, Gary L., Meltesen, Lynne, Crnic, Linda S., Allen, Robert H., Stabler, Sally P., Elleder, Milan, Rozen, Rima, Patterson, David, Kraus, Jan P.
Publicado em 2010

Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities

Por Sikora, Jakub, Dworski, Shaalee, Jones, E. Ellen, Kamani, Mustafa A., Micsenyi, Matthew C., Sawada, Tomo, Le Faouder, Pauline, Bertrand-Michel, Justine, Dupuy, Aude, Dunn, Christopher K., Xuan, Ingrid Cong Yang, Casas, Josefina, Fabrias, Gemma, Hampson, David R., Levade, Thierry, Drake, Richard R., Medin, Jeffrey A., Walkley, Steven U.
Publicado no Am J Pathol (2017)

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

Por Živná, Martina, Hůlková, Helena, Matignon, Marie, Hodaňová, Kateřina, Vylet'al, Petr, Kalbáčová, Marie, Barešová, Veronika, Sikora, Jakub, Blažková, Hana, Živný, Jan, Ivánek, Robert, Stránecký, Viktor, Sovová, Jana, Claes, Kathleen, Lerut, Evelyne, Fryns, Jean-Pierre, Hart, P. Suzanne, Hart, Thomas C., Adams, Jeremy N., Pawtowski, Audrey, Clemessy, Maud, Gasc, Jean-Marie, Gübler, Marie-Claire, Antignac, Corinne, Elleder, Milan, Kapp, Katja, Grimbert, Philippe, Bleyer, Anthony J., Kmoch, Stanislav
Publicado em 2009

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Por 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.
Publicado em 2006