Regulation of Human Cystathionine β-Synthase by S-Adenosyl-l-methionine:  Evidence for Two Catalytically Active Conformations Involving an Autoinhibitory Domain in the C-Terminal R... von Janošík, Miroslav, Kery, Vladimír, Gaustadnes, Mette, Maclean, Kenneth N, Kraus, Jan P

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The Human Cystathionine β-Synthase (CBS) Gene: Complete Sequence, Alternative Splicing, and Polymorphisms von Kraus, Jan P., Oliveriusová, Jana, Sokolová, Jitka, Kraus, Eva, Vlček, Čestmı&́r, de Franchis, Raffaella, Maclean, Kenneth N., Bao, Liming, Bukovská, Gabriela, Patterson, David, Pačes, Václav, Ansorge, Wilhelm, Kožich, Viktor

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Transsulfuration depends on heme in addition to pyridoxal 5'-phosphate. Cystathionine beta-synthase is a heme protein von Kery, V, Bukovska, G, Kraus, J P

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Homocystinuria due to cystathionine β‐synthase deficiency: Novel biochemical findings and treatment efficacy von Orendáč, M., Zeman, J., Stabler, S. P., Allen, R. H., Kraus, J. P., Bodamer, O., Stöckler‐Ipsiroglu, S., Kvasnička, J., Kožich, V.

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Structure of human cystathionine β-synthase: a unique pyridoxal 5′-phosphate-dependent heme protein von Meier, Markus, Janosik, Miroslav, Kery, Vladimir, Kraus, Jan P., Burkhard, Peter

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Propionic acidemia: neonatal versus selective metabolic screening von Grünert, S. C., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O., Sass, J. O.

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The Molecular Basis of Cystathionine β-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical and Clinical Phenotype and on Response to Tr... von Kluijtmans, Leo A.J., Boers, Godfried H.J., Kraus, Jan P., van den Heuvel, Lambert P. W.J., Cruysberg, Johan R.M., Trijbels, Frans J.M., Blom, Henk J.

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Rat cystathionine beta-synthase. Gene organization and alternative splicing von SWAROOP, M, BRADLEY, K, OHURA, T, TAHARA, T, ROPER, M. D, ROSENBERG, L. E, KRAUS, J. P

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Reproductive fitness in maternal homocystinuria due to cystathionine β‐synthase deficiency von Levy, H. L., Vargas, J. E., Waisbren, S. E., Kurczynski, T. W., Roeder, E. R., Schwartz, R. S., Rosengren, S., Prasad, C., Greenberg, C. R., Gilfix, B. M., MacGregor, D., Shih, V. E., Bao, L., Kraus, J. P.

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High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase von Ravn, Kirstine, Chloupkova, Maja, Christensen, Ernst, Brandt, Niels Jacob, Simonsen, Henrik, Kraus, Jan P., Nielsen, Inge Merete, Skovby, Flemming, Schwartz, Marianne

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A missense mutation (1278T) in the cystathionine β-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype von SHIH, V. E, FRINGER, J. M, MANDELL, R, KRAUS, J. P, BERRY, G. T, HEIDENREICH, R. A, KORSON, M. S, LEVY, H. L, RAMESH, V

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Cystathionine β-synthase mutations in homocystinuria von Kraus, Jan P., Janošík, Miroslav, Kožich, Viktor, Mandell, Roseann, Shih, Vivian, Sperandeo, M.P., Sebastio, Gianfranco, de Franchis, Raffaella, Andria, Generoso, Kluijtmans, Leo A.J., Blom, Henk, Boers, Godfried H.J., Gordon, Ross B., Kamoun, Pierre, Tsai, Michael Y., Kruger, Warren D., Koch, Hans G., Ohura, Toshihiro, Gaustadnes, Mette

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Trypsin Cleavage of Human Cystathionine β-Synthase into an Evolutionarily Conserved Active Core: Structural and Functional Consequences von Kery, Vladimir, Poneleit, Loelle, Kraus, Jan P.

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Human cystathionine β-synthase cDNA: sequence, alternative splicing and expression in cultured cells von Kraus, Jan P., Le, Kim, Swaroop, Manju, Ohura, Toshihiro, Tahara, Takahiro, Rosenberg, Leon E., Roper, Michael D., Kožlch, Viktor

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Molecular basis of phenotype expression in homocystinuria von Kraus, J. P.

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The gene for cystathionine β-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17 von MUNKE, M, KRAUS, J. P, OHURA, T, FRANCKE, U

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Is the common 844ins68 polymorphism in the cystathionine β‐synthase gene associated with atherosclerosis? von Orendáč, M., Mušková, B., Richterová, E., Zvárová, J., Štefek, M., Zaykova, E., Kraus, J. P., Stříbrný, J., Hyánek, J., Kožich, V.

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Biochemistry and molecular genetics of cystathionine beta-synthase deficiency von Kraus, J P

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Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria von Janošík, Miroslav, Oliveriusová, Jana, Janošíková, Bohumila, Sokolová, Jitka, Kraus, Eva, Kraus, Jan P., Kožich, Viktor

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Hyperhomocysteinemia in premature arterial disease: examination of cystathionine β-synthase alleles at the molecular level von Kozich, Viktor, Kraus, Eva, de Franchis, Raffaella, Fowler, Brian, Boers, Godfried H.J., Graham, Ian, Kraus, Jan P.

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