Environmental influences on familial discordance of phenotype in people with homocystinuria: a case report

por Maillot, Francois, Kraus, Jan P, Lee, Philip J
Publicado 2008

Cross-Talk between the Catalytic Core and the Regulatory Domain in Cystathionine β-Synthase: Study by Differential Covalent Labeling and Computational Modeling

por Hnízda, Aleš, Spiwok, Vojtěch, Jurga, Vojtěch, Kožich, Viktor, Kodíček, Milan, Kraus, Jan P.
Publicado 2010

Activation of Mutant Enzyme Function In Vivo by Proteasome Inhibitors and Treatments that Induce Hsp70

por Singh, Laishram R., Gupta, Sapna, Honig, Nicholaas H., Kraus, Jan P., Kruger, Warren D.
Publicado 2010

Domain Organization, Catalysis and Regulation of Eukaryotic Cystathionine Beta-Synthases

por Majtan, Tomas, Pey, Angel L., Fernández, Roberto, Fernández, José A., Martínez-Cruz, Luis A., Kraus, Jan P.
Publicado 2014

Cystathionine β-Synthase Mutations: Effect of Mutation Topology on Folding and Activity

por Kožich, Viktor, Sokolová, Jitka, Klatovská, Veronika, Krijt, Jakub, Janošík, Miroslav, Jelínek, Karel, Kraus, Jan P, Cooper, David N
Publicado 2010

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 2010

Brain Phenotype of Transgenic Mice Overexpressing Cystathionine β-Synthase

por Régnier, Vinciane, Billard, Jean-Marie, Gupta, Sapna, Potier, Brigitte, Woerner, Stéphanie, Paly, Evelyne, Ledru, Aurélie, David, Sabrina, Luilier, Sabrina, Bizot, Jean-Charles, Vacano, Guido, Kraus, Jan P., Patterson, David, Kruger, Warren D., Delabar, Jean M., London, Jaqueline
Publicado 2012

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 2010

Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion

por Vyletal, Petr, Sokolová, Jitka, Cooper, David N., Kraus, Jan P., Krawczak, Michael, Pepe, Guglielmina, Rickards, Olga, Koch, Hans G., Linnebank, Michael, Kluijtmans, Leo A. J., Blom, Henk J., Boers, Godfried H. J., Gaustadnes, Mette, Skovby, Flemming, Wilcken, Bridget, Wilcken, David E. L., Andria, Generoso, Sebastio, Gianfranco, Naughten, Eileen R., Yap, Sufin, Ohura, Toshihiro, Pronicka, Ewa, Laszlo, Aranka, Kožich, Viktor
Publicado 2007

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

por Grünert, Sarah C, Müllerleile, Stephanie, De Silva, Linda, Barth, Michael, Walter, Melanie, Walter, Kerstin, Meissner, Thomas, Lindner, Martin, Ensenauer, Regina, Santer, René, Bodamer, Olaf A, Baumgartner, Matthias R, Brunner-Krainz, Michaela, Karall, Daniela, Haase, Claudia, Knerr, Ina, Marquardt, Thorsten, Hennermann, Julia B, Steinfeld, Robert, Beblo, Skadi, Koch, Hans-Georg, Konstantopoulou, Vassiliki, Scholl-Bürgi, Sabine, van Teeffelen-Heithoff, Agnes, Suormala, Terttu, Sperl, Wolfgang, Kraus, Jan P, Superti-Furga, Andrea, Schwab, Karl Otfried, Sass, Jörn Oliver
Publicado 2013