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Publications

  • Kraus, J. and Staehelin, M. N2-guanine specific transfer RNA methyltransferase I from rat liver and leukemic rat spleen. Nucl. Acid Res. 1:1455-1478, 1974.
  • Kraus, J. and Staehelin, M. N2-guanine specific transfer RNA methyltransferase II from rat liver. Nucl. Acids Res. 1:1479-1496, 1974.
  • Kraus, J. Recognition of individual Escherichia coli transfer ribonucleic acids by 1-adenine-specific methyltransferase from rat liver. Biochem. J. 169:247-249, 1978.
  • Fowler, B., Kraus, J., Packman, S., and Rosenberg, L.E. Homocystinuria: Evidence for three distinct classes of cystathionine b -synthase mutants in cultured fibroblasts. J. Clin. Invest. 61:645-653, 1978.
  • Kraus, J., Packman, S., Fowler, B., and Rosenberg, L.E. Purification and properties of cystathionine b -synthase from human liver: Evidence for identical subunits. J. Biol. Chem. 253:6523-6528, 1978.
  • Kraus, J., Low, K.B. and Soll, D. g -Glutamyl methyl ester acts as a methionine analogue in Escherichia coli--analogue resistant mutants at the metJ and metK loci. Genetical Research, Cambridge 33:49-55, 1979.
  • Lipson, M.H., Kraus, J., and Rosenberg, L.E. Affinity of cystathionine b -synthase for pyridoxal 5'-phosphate in cultured cells: A mechanism for pyridoxine-responsive homocystinuria. J. Clin. Invest. 66:188-193, 1980.
  • Lipson, M.H., Kraus, J.P., Solomon, L.R., and Rosenberg, L.E. Depletion of cultured human fibroblasts of pyridoxal 5'-phosphate: Effect on activities of aspartate aminotransferase, alanine aminotransferase, and cystathionine b -synthase. Arch. Biochem. Biophys. 204:486-493, 1980.
  • Kraus, J.P., Conboy, J.G., and Rosenberg, L.E. Pre-ornithine transcarbamylase: Properties of the cytoplasmic precursor of a mitochondrial matrix enzyme. J. Biol. Chem. 256:10739-10742, 1981.
  • Skovby, F., Kraus, J., Redlich, C., and Rosenberg, L.E. Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine b -synthase deficiency. Am. J. Human Genet. 34:73-83, 1982.
  • Kraus, J.P. and Rosenberg, L.E. Purification of low-abundance messenger RNAs from rat liver by polysome immunoadsorption. Proc. Natl. Acad. Sci. USA 79:4015-4019, 1982.
  • Kraus, J.P. and Rosenberg, L.E. Cystathionine b -synthase from human liver: Improved purification and additional characterization of the enzyme in crude and pure form. Arch. Biochem. Biophys. 222:44-52, 1983.
  • Kraus, J.P., Kalousek, F., and Rosenberg, L.E. Biosynthesis and mitochondrial processing of the b -subunit of propionyl CoA carboxylase from rat liver. J. Biol. Chem. 258:7245-7248, 1983.
  • Horwich, A.L., Kraus, J.P., Williams, K., Kalousek, F., Konigsberg, W., and Rosenberg, L.E. Molecular cloning of cDNA coding for rat ornithine transcarbamylase. Proc. Natl. Acad. Sci. USA 80:4258-4262, 1983.
  • Skovby, F., Kraus, J.P., and Rosenberg, L.E. Homocystinuria: Biogenesis of cystathionine b -synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA. Am. J. Human Genet. 36:452-459, 1984.
  • Skovby, F., Kraus, J.P., and Rosenberg, L.E. Biosynthesis of human cystathionine b -synthase in cultured fibroblasts. J. Biol. Chem. 259:583-587, 1984.
  • Skovby, F., Kraus, J.P., and Rosenberg, L.E. Biosynthesis and proteolytic activation of cystathionine b -synthase in rat liver. J. Biol. Chem. 259:588-593, 1984.
  • Horwich, A.L., Fenton, W.A., Williams, K.R., Kalousek, F., Kraus, J.P., Doolittle, R.F., Konigsberg, W., and Rosenberg, L.E. Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Science 224:1068-1074, 1984.
  • Horwich, A.L., Kraus, J.P., and Rosenberg, L.E. Strategies for the molecular cloning of low abundance messenger RNAs, in The Molecular Basis of Lysosomal Storage Disorders (J.A. Barranger and R.O. Brady, eds.), Academic Press, New York, pp. 365-385, 1984.
  • Firgaira, F.A., Hendrick, J.P., Kalousek, F., Kraus, J.P., and Rosenberg, L.E. RNA required for import of precurcor proteins into mitochondria. Science 226:1319-1322, 1984.
  • Kraus, J.P., Hodges, P.E., Williamson, C.L., Horwich, A.L., Kalousek, F., Williams, K.R., and Rosenberg, L.E. A cDNA clone for the precursor of rat mitochondrial ornithine transcarbamylase: Comparison of rat and human leader sequences and conservation of catalytic sites. Nucl. Acids Res. 13:943-952, 1985.
  • Kraus, J.P., Williamson, C.L., Firgaira, F.A., Yang-Feng, T.L., Munke, M., Francke, U., and Rosenberg, L.E. Cloning and screening with nanogram amounts of immunopurified messenger RNAs: cDNA cloning and chromosomal mapping of cystathionine b -synthase and the b -subunit of propionyl CoA carboxylase. Proc. Natl. Acad. Sci. USA 83:2047-2051, 1986.
  • Matsubara, Y., Kraus, J.P., Yang-Feng, T.L., Francke, U., Rosenberg, L.E., and Tanaka, K. Molecular cloning of cDNAs encoding rat and human medium chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1. Proc. Natl. Acad. Sci. USA 83:6543-6547, 1986.
  • Kraus, J.P. Firgaira, F., Novotny, J., Kalousek, F., Williams, K.R., Williamson, C., Ohura, T., and Rosenberg, L.E. Coding sequence of the precursor of the b -subunit of rat propionyl-CoA carboxylase. Proc. Natl. Acad. Sci. USA 83:8049-8053, 1986.
  • Rosenberg, L.E., Fenton, W.A., Horwich, A.L., Kalousek, F., and Kraus, J.P. Targeting of nuclear-encoded proteins to the mitochondrial matrix: Implications for human genetic defects. Ann. N.Y. Acad. Sci. 488:99-108, 1986.
  • Kraus, J.P. Cystathionine b -synthase. Methods Enzymol. 143:388-394, 1987.
  • Fenton, W.A., Hack, A.M., Kraus, J.P., and Rosenberg, L.E. Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: Detection of a mutation interfering with mitochondrial import. Proc. Natl. Acad. Sci. USA 84:1421-1424, 1987.
  • Matsubara, Y., Kraus, J.P., Ozasa, H., Glassberg, R., Finocchiaro, G., Ikeda, Y., Mole, J., Rosenberg, L.E., and Tanaka, K. Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat liver medium chain acyl-CoA dehydrogenase. J. Biol. Chem. 262:10104-10108, 1987.
  • Spicer, E.K., Horton, R., Bloem, L., Bach, R., Williams, K.R., Guha, A., Kraus, J., Lin, T.C., Nemerson, Y., and Konigsberg, W. Isolation of cDNA clones coding for human tissue factor: Primary structure of the protein and cDNA. Proc. Natl. Acad. Sci. USA 84:5148-5152, 1987.
  • Sztul, E.S., Hendrick, J.P., Kraus, J.P., Wall, D., Kalousek, F., and Rosenberg, L.E. Import of rat ornithine transcarbamylase precursor into mitochondria: Two step processing of the leader peptide. J. Cell Biol. 105:2631-2639, 1987.
  • Kraus, J.P., Matsubara, Y., Barton, D., Yang-Feng., T., Glassberg, R., Ito, M., Ikeda, Y., Mole, J., Francke, U., and Tanaka, K. Isolation of cDNA clones for rat isovaleryl-CoA dehydrogenase and assignment of the gene to human chromosome 15. Genomics 1:264-269, 1987.
  • Munke, M., Kraus, J.P., Ohura, T., and Francke, U. The gene for cystathionine b -synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. Am. J. Hum. Genet. 42:550-559, 1988.
  • Kraus, J.P., Novotny, J., Kalousek, F., Swaroop, M., and Rosenberg, L.E. Different structures in the amino terminal domain of ornithine transcarbamylase leader are involved in mitochondrial import and carboxy-terminal cleavage. Proc. Natl. Acad. Sci. USA 85:8905-8909, 1988.
  • Longley, J., Kraus, J., Alonso, M., and Edelson, R. Molecular cloning of CD1a(T6), a human epidermal dendritic cell marker related to class I MHC molecules. J. Invest. Dermatol. 92:628-631, 1989.
  • Ohura, T., Kraus, J.P., and Rosenberg, L.E. Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in normal and propionicacidemia patients. Am. J. Hum. Genet. 45:33-40, 1989.
  • Szpirer, C., Kraus, J.P., Riviere, M., Swaroop, M., Ohura, T., Matsubara, Y., Szpirer, J., Islam, M.Q., and Levan, G. Assignment of the rat genes coding for medium chain acyl-CoA dehydrogenase, isovaleryl CoA dehydrogenase and the b -subunit of propionyl CoA carboxylase to chromosomes 2, 3 and 8, respectively. Cytogenet. Cell Genet. 50:23-26, 1989.
  • Matsubara, Y., Indo, Y., Naito, E., Ozasa, H., Glassberg, R., Vockley, J., Ikeda, Y., Kraus, J., and Tanaka, K. Molecular cloning and nucleotide sequence of cDNAs encoding the precursors of rat long chain acyl-coenzyme A, short chain acyl coenzyme A and isovaleryl-coenzyme A dehydrogenases: Sequence homology of four enzymes of the acyl-CoA dehydrogenase family. J. Biol. Chem. 264:16321-16331, 1989.
  • Cochran, F.B., Sweetman, L., Schmidt, K., Barsh, G., Kraus, J., and Packman, S., Pyridoxine-unresponsive homocystinuria with an unusual clinical course. Am. J. Med. Genet. 35:519-522, 1990.
  • Tahara, T., Kraus, J.P., and Rosenberg, L.E. Direct DNA sequencing of PCR amplified Genomic DNA by the Maxam-Gilbert method. BioTechniques. 8:366-368, 1990.
  • Kraus, J.P., Ohura, T., Tahara, T., and Rosenberg, L.E. Propionicacidemia: Three different mutations in the same exon of the PCCB gene encoding the b -subunit of propionyl CoA carboxylase. J. Jap. Soc. Inher. Metab. Dis. 6:59-72, 1990.
  • Gardiner, K., Horisberger, M., Kraus, J., Tantravahi, U., Korenberg, J., Rao, V., Reddy, S., and Patterson, D. Analysis of human chromosome 21: correlation of physical and cytogenetic maps; gene and CpG island distributions. EMBO J. 9:25-34, 1990.
  • Tahara, T., Kraus, J.P., and Rosenberg, L.E. An unusual insertion/deletion in the gene encoding the b -subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia. Proc. Natl. Acad. Sci USA 87:1372-1376, 1990.
  • Stubbs, L., Kraus, J., and Lehrach, H. The a -A-crystalin and cystathionine b -synthase genes are physically very closely linked in proximal mouse chromosome 17. Genomics 7:284-288, 1990.
  • Locker, J., Gill, T.J., Kraus, J.P., Ohura, T., Swaroop, M., Rivière, M., Islam, M.Q., Levan, G., Szpirer, J., and Szpirer, C. The rat MHC and cystathionine b -synthase gene are syntetic on chromosome 20. Immunogenetics 31:271-274, 1990.
  • Nadeau, J.H., Hermann, B., Bucan, M., Burkart, D., Crosby, J.L., Erhart, M.A., Kosowsky, M., Kraus, J.P., Michiels, F., Schnattinger, A., Tchetgen, M., Varnum, D., Willison, K. Lehrach, H., and Barlow, D. Genetic maps of mouse chromosome 17 including 12 new anonymous DNA loci and 25 anchor loci. Genomics 9:78-89, 1991.
  • Threadgill, D.S., Kraus, J.P., Krawetz, S.A., and Womack, J.E. Evidence for the evolutionary origin of human chromosome 21 from comparative gene mapping in the cow and mouse. Proc. Natl. Acad. Sci. USA 88:154-158, 1991.
  • Wagstaff, J., Korson, M., Kraus, J.P., and Levy, H.L. Severe folate deficiency and pancytopenia in a nutritionally deprived infant with homocystinuria caused by cystathionine beta-synthase deficiency. J. Peds. 118:569-572, 1991.
  • Blouin, J., Aurias, A., Creau-Goldberg, N., Apiou, F., Alcaide-Loridan, C., Bruel, A., Prieur, M., Kraus, J., Delabar, J., Sinet, J., and Sinet, P. Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21. Hum. Genet. 88:167-174, 1991.
  • Falik-Borenstein, T.C., Pribyl, T.M., Pulst, S.M., Van Dyke, D.L., Weiss, L., Chu, M.L., Kraus, J., Marshak, D., and Korenberg, J.R. Stable ring chromosome 21: molecular and clinical definition of the lesion. Am. J. Med. Genet. 42:22-28, 1992.
  • Swaroop, M., Bradley, K., Ohura, T., Tahara, T., Roper, M.D., and Rosenberg, L.E. Rat cystathionine b -synthase: Gene organization and alternative splicing J. Biol. Chem. 267:11455-11461, 1992.
  • Kozich, V. and Kraus, J. P. Screening for mutations by expressing patient cDNA segments in E.coli: homocystinuria due to cystathionine b -synthase deficiency. Human Mutation 1:113-123, 1992.
  • Delabar, J-M, Rahmani, Z., Theophile, D., Blouin, J-L, Bono, R., Kraus, J., Barton, J., Patterson, D., and Sinet, P-M. Gene-dosage mapping of 30 DNA markers on chromosome 21. Genomics 13:887-889, 1992.
  • Roper, M.D., and Kraus, J.P. Rat cystathionine b -synthase: Expression of four alternatively spliced isoforms in transfected cultured cells. Arch. Biochem. Biophys. 298:514-521, 1992.
  • Avramopoulos, D., Cox, T., Kraus, J.P., Chakravarti, A., Antonarakis, S.E. Linkage mapping of the cystathionine b -synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslalted region. Human Genet. 90:566-568, 1993.
  • Tahara, T., Kraus, J.P., Ohura, T., Rosenberg, L.E., and Fenton, W.A. Three independent mutations in the same exon of the PCCB gene: Differences between Caucasian and Japanese propionic acidaemia. J. Inher. Metab. Dis. 16, 353-360, 1993.
  • Kozich, V., de Franchis, R., and Kraus, J.P. Molecular defect in a patient with pyridoxine-responsive homocystinuria. Human Mol. Genet. 2:815-816, 1993.
  • Kraus, J.P., and Tahara, T. Direct DNA sequencing of polymerase chain reaction-amplified genomic DNA by Maxam-Gilbert method. Methods Enzymol. 218:227-233, 1993.
  • Crete, N., Delabar, J.M., Rahmani, Z., Yaspo, M.L., Kraus, J., Marks, A., Sinet, P.M., and Creau-Goldberg N., Partial physical map of human chromosome-21 from fibroblast and lymphocyte DNA. Human Genet 91:245-253, 1993.
  • Kraus, J.P., Le, K., Swaroop, M., Ohura, T., Tahara, T., Rosenberg, L.E., Roper, M.D., and Kozich, V. Human cystathionine b -synthase cDNA: Sequence, alternative splicing, and expression in cultured cells. Human Mol. Genet. 2:1633-1638, 1993.
  • Hu, F.L., Gu, Z., Kozich, V., Kraus, J.P., Ramesh, V., and Shih, V.E. Molecular basis of cystathionine b -synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Human Mol. Genet. 2:1857-1860, 1993.
  • deFranchis R., Kozich V., McInnes, R.R. and Kraus, J.P. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine b -synthase using an improved bacterial expression system. Human Mol Genet. 3:1103-1108, 1994.
  • Kraus, J.P.: Molecular basis of phenotype expression in homocystinuria. J. Inher. Metab. Dis. 17:383-390, 1994.
  • Bukovska, G., Kery, V. and Kraus, J.P. Expression of human cystathionine b -synthase in Escherichia coli: Purification and characterization. Protein Expression and Purification, 5:442-448, 1994.
  • Marble, M., Geraghty, M.T., deFranchis, R., Kraus, J.P. and Valle, D.: Characterization of a cystathionine b -synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. Human Mol. Genet., 3:1883-1886, 1994.
  • Kery, V., Bukovska, G. and Kraus, J.P.: Transsulfuration depends on heme in addition to pyridoxal 5’ - phosphate: Cystathionine b -synthase is a heme protein. J. Biol. Chem., 269:25283-25288, 1994.
  • Sperandeo, M.P., Panico, M., Pepe, A., Candito, M., deFranchis, R., Kraus, J.P., Andria, G. and Sebastio, G.: Molecular analysis of patients affected by homocystinuria due to cystathionine b -synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11. J. Inher. Metab. Dis. 18:211-214, 1995.
  • Gallagher, P.M., Ward, P., Tan, S., Naughten, E., Kraus, J.P., Sellar, G.C., McConnell, D.J., Graham, I. and Whitehead, A.S. High frequency (71%) of cystathionine b -synthase mutation G307S in Irish homocystinuria patients. Human Mutation 6:177-180, 1995.
  • Shih, V.E., Fringer, J.M., Mandell, R., Kraus, J.P., Berry, G.T., Heidenreich, R.A., Korson, M.S., Levy, H.L. and Ramesh, V. A missense mutation (1278T) in the cystathionine b -synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. Am. J. Human Genet. 57:34-39, 1995.
  • Sebastio, G., Sperandeo, M.P., Panico, M., deFranchis, R., Kraus, J.P., and Andria, G. The molecular basis of homocystinuria due to cystathionine b -synthase deficiency in Italian families, and report of four novel mutations. Am. J. Human Genet. 56:1324-1333, 1995.
  • Kozich, V., Kraus, E., deFranchis, R., Fowler, B., Boers, G.H.J., Graham, I. and Kraus, J.P. Hyperhomocysteinemia in premature arterial disease: Examination of cystathionine b -synthase alleles at the molecular level. Human Mol .Genet. 4:623-629, 1995.
  • Kery, V., Elleder, D., and Kraus, J.P.: d -Aminolevulinate increases heme saturation and yield of human cystathionine b -synthase expressed in Escherichia coli. Arch. Biochem. Biophys. 10:24-29, 1995.
  • Kluijtmans, L.A.J., Boers, G.H.J., Stevens, E.M.B., Renier, W.O., Kraus, J.P., Trijbels, F.J.M., van den Heuvel, L.P.W. and Blom, H.J. Defective cystathionine b -synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. J. Clin. Invest. 98:285-289, 1996.
  • Kelson, T., Ohura, T. and Kraus, J.P. Chaperonin-mediated assembly of wild type and mutant subunits of human propionyl-CoA carboxylase expressed in E.coli. Human Mol. Genet 5:331-337, 1996.
  • Roper, M.D., Straubhaar, J.R., Kraus, E., Sokolova, J., Hrebicek, M. and Kraus, J.P. Organization and comparison of the 5’ end of the rat and mouse cystathionine b -synthase genes. Mammalian Genome 7:754-757, 1996.
  • Dawson, P.A., Cochran, D.A.E., Emmerson, B.T., Kraus, J.P., Dudman, N.P.B. and Gordon, R.B. Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine b -synthase. Aust .NZ J. Med. 6:180-185, 1996.
  • Kozich, V., Janosik, M., Sokolova, J., Oliveriusova, J., Orendac, M., Kraus, J.P. and Elleder, D. Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223+37 del 99. J. Inher.Metab. Dis. 20: 363-366, 1997
  • Dawson, P.A., Cox, A.J., Emmerson, B.T., Dudman, N.P.B., Kraus, J.P. and Gordon, R.B. Characterization of five missense mutations in the cystathionine b -synthase gene from three patients with B6 nonresponsive homocystinuria. Eur. J. Hum.Genet. 5:15-21, 1997.
  • Dong, A., Kery, V., Matsuura, J., Manning, M.C., Kraus, J.P. and Carpenter, J.F. Secondary structure of recombinant human cystathionine b -synthase in aqueous solution - effect of ligand binding and proteolytic truncation. Arch.Biochem. Biophys. 344: 125-132, 1997
  • Kraus, J.P. Biochemistry and molecular genetics of cystathionine b -synthase deficiency. Eur. J. Pediat. 157 suppl. 2:S50-S53, 1998.
  • Gordon, R.B., Cox, A.J., Dawson, P.A., Emmerson, B.T., Kraus, J.P. and Dudman, N.P.B. Mutational analysis of the cystathionine b -synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Hum. Mutation, Mutation in Brief #120, 1997.
  • Bao, L., Vlcek, C., Paces, V., and Kraus J.P. Identification and tissue distribution of human cystathionine b -synthase mRNA isoforms. Arch.Biochem.Biophys. 350: 95-103, 1998.
  • Kery, V., Poneleit, L., and Kraus, J.P. Trypsin cleavage of human cystathionine b -synthase into an evolutionary conserved 45kDa active core: Structural and functional consequences. Arch. Biochem. Biophys. 355:222-232,1998.
  • Kraus, J.P., Oliveriusová, J., Sokolová, J., Kraus, E., Vlcek, C., de Franchis, R., Maclean, K., Bao, L., Bukovská, G., Patterson, D., Paces, V., Ansorge, W., Kozich, V. The human cystathionine b -synthase (CBS) gene: complete sequence, alternative splicing and polymorphisms. Genomics, 15;52(3):312-24, 1998
  • Kery, V., Poneleit, L., Meyer, J.D., Manning, M.C. and Kraus, J.P. Binding of pyridoxal 5’-phosphate to a hemeprotein-human cystathionine b -synthase. Biochemistry, 2;38(9):2716-24, 1999
  • Gaustadnes, M., Kluijtmans, L.A.J., Jensen, O.K., Rasmussen, K., Heil, S.G., Kraus, J.P., Blom, H.J., Ingerslev, J., and Rüdiger, N. Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method. FEBS Lett., 17;431(2):175-9, 1998
  • Kluijtmans, L. A., Boers, G. H., Kraus, J. P., van den Heuvel, L. P., Cruysberg, J. R., Trijbels, F. J., and Blom, H. J. (1999) The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. Am J Hum Genet 65: 59–67.
  • Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LAJ, Blom H, Boers GHJ, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M (1999) Cystathionine b-synthase mutations in homocystinuria. Hum.Mutation 13: 362-375.
  • de Franchis R, Kraus E, Sebastio G, Kraus JP (1999) Four novel mutations in the cystathionine b-synthase gene: The effect of a second linked mutation on the severity of the homocystinuric phenotype. Hum.Mutation 13: 453-457.
  • Orendac, M., Muskova, B., Richterova, E., Zvarova, J., Stefek, M., Zaykova, E., Kraus, J. P., Stribrny, J., Hyanek, J. & Kozich, V. (1999). Is the common 844ins68 polymorphism in the cystathionine beta-synthase gene associated with atherosclerosis? J Inherit Metab Dis:22, 674-5.
  • Kluijtmans, L. A., Boers, G. H., Kraus, J. P., van den Heuvel, L. P., Cruysberg, J. R., Trijbels, F. J., and Blom, H. J. (1999) The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. Am J Hum Genet 65: 59–67.
  •   Kozich V, Kraus JP, Hyanek J (1999) Homocysteine, genes and  vitamins:association with cardiovascular disease and with complications of pregnancy. Diabetes, metabolismus, endokrinologie, vyziva 2:113-120 (in Czech)
  • Maclean, K.N., Janošík, M., Oliveriusová, J., Kery, V., and Kraus, J.P. (2000) Transsulfuration  in Saccharomyces cerevisiae is not dependent on heme: Purification and characterization of recombinant yeast cystathionine b-synthase. J.Inorg. Biochem, 81: 161-171.
  • Ravn, K., Chloupkova, M., Christensen, E., Brandt, N.J., Simonsen, H., Kraus, J.P., Nielsen I.M., Skovby, F., and Schwartz, M. (2000) High incidence of propionic acidemia in Greenland due to a prevalent mutation, 1540insCCC, in the gene for the beta subunit of propionyl CoA carboxylase. Am. J. Hum. Genet., 67: 203-206.
  • Chloupkova M, Ravn K, Schwartz M, Kraus JP. (2000) Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli Mol Genet Metab. 71:623-32.
  • Bruno S, Schiaretti F, Burkhard P, Kraus JP, Janosik M, Mozzarelli A. (2001)Functional properties of the active core of human cystathionine beta-synthase crystals. J Biol Chem. 276: 16-19.
  • Janosik M , Meier M , Kery V , Oliveriusova J , Burkhard P , Kraus JP. (2001) Crystallization and preliminary X-ray diffraction analysis of the active core of human recombinant cystathnine beta-synthase: an enzyme involved in vascular disease. Acta Crystallogr.57: 289-291.
  • Janosik, M., Oliveriusova, J., Janosikova, B., Sokolova, J., Kraus, E., Kraus, J.P., and Kozich, V. (2001) Impaired Heme Binding and Aggregation of Mutant Cystathionine beta- Synthase Subunits in Homocystinuria. Am J Hum Genet 68:1506-1513.
  • Vadon-Le Goff, S., Delaforge, M., Boucher, J.L., Janosik, M., Kraus, J.P., and Mansuy, D. 2001. Coordination Chemistry of the Heme in Cystathionine beta-Synthase: Formation of Iron(II)-Isonitrile Complexes. Biochem Biophys Res Commun 283:487-492.
  • Meier, M., Janosik, M., Kery, V., Kraus, J. P., Burkhard, P. (2001) Structure of human cystathionine b-synthase: A unique pyridoxal 5'-phosphate dependent hemeprotein. EMBO J. 20:3910-6.
  • Janosik M, Kery V, Gaustadnes M, Maclean KN, Kraus JP (2001) Regulation of Human Cystathionine beta-Synthase by S-Adenosyl-L- methionine: Evidence for Two Catalytically Active Conformations Involving an Autoinhibitory Domain in the C-Terminal Region. Biochemistry 40:10625-33.
  • Maclean KN, Gaustadnes M, Oliveriusova J, Janosik M, Kraus E, Kozich V, Kery V, Skovby F, Rudiger N, Ingerslev J, Stabler SP, Allen RH, Kraus JP (2002). High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. Hum Mutat. 19(6):641-55.
  • Maclean KN, Janosik M, Kraus E, Kozich V, Allen RH, Raab BK, Kraus JP (2002). Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisiae. J Cell Physiol. 192:81-92.
  • Chloupkova M, Maclean KN, Alkhateeb A, Kraus JP (2002). Propionic acidemia: Analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli. Hum Mutat. 19(6):629-40.
  • Gaustadnes M, Wilcken B, Oliveriusova J, McGill J, Fletcher J, Kraus JP, Wilcken DE (2002): The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Hum Mutat 20:117-26.
  • Stabler SP, Steegborn C, Wahl MC, Oliveriusova J, Kraus JP, Allen RH, Wagner C, Mudd SH (2002): Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency. Metabolism 51:981-8
  • Ratnam S, Maclean KN, Jacobs RL, Brosnan ME, Kraus JP, Brosnan JT (2002): Hormonal regulation of cystathionine beta -synthase expression in liver. J Biol Chem., in press
  • Levy HL, Vargas JE, Waisbren SE, Kurczynski TW, Roeder ER, Schwartz RS, Rosengren S, Prasad C, Greenberg CR, Gilfix BM, MacGregor D, Shih VE, Bao L, Kraus JP (2002): Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis 25:299-314.
  • Ratnam S, Maclean KN, Jacobs RL, Brosnan ME, Kraus JP, Brosnan JT (2002): Hormonal regulation of cystathionine beta-synthase expression in liver. J Biol Chem 277:42912-8.

  • Levy HL, Vargas JE, Waisbren SE, Kurczynski TW, Roeder ER, Schwartz RS, Rosengren S, Prasad C, Greenberg CR, Gilfix BM, MacGregor D, Shih VE, Bao L, Kraus JP (2002): Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis 25:299-314.

  • Oliveriusova J, Kery V, Maclean KN, Kraus JP. (2002) Deletion mutagenesis of human cystathionine beta -synthase: Impact on activity, oligomeric status and S-adenosylmethionine regulation. J.Biol. Chem., 277:48386-94.

  • Orendac M, Zeman J, Stabler SP, Allen RH, Kraus JP, Bodamer O, Stockler-Ipsiroglu S, Kvasnicka J, Kozich V (2003) Homocystinuria due to cystathionine ß -synthase deficiency: Novel biochemical findings and treatment efficacy. J Inherit Metab Dis 26:761-773

  • Meier M, Oliveriusova J, Kraus JP, Burkhard P (2003) Structural insights into mutations of cystathionine beta-synthase. Biochim Biophys Acta 1647:206-213
  • Moat SJ, Bao L, Fowler B, Bonham JR, Walter JH, Kraus JP (2004) The molecular basis of cystathionine beta -synthase (CBS) deficiency in UK and US patients with homocystinuria. Hum Mutat 23:206

  • Maclean KN, Kraus E, Kraus JP (2004) The dominant role of Sp1 in regulating the cystathionine beta -synthase -1a and -1b promoters facilitates potential tissue-specific regulation by Kruppel-like factors. J Biol Chem, 279:8558-8566

  • Miles, EW and Kraus JP (2004) Cystathionine ß-Synthase: Structure, Function, Regulation and Location of Homocystinuria-Causing Mutations. J Biol Chem Minireview, 279: 29871-4.

  • Bar-Or D, Curtis CG, Sullivan A, Rael LT, Thomas GW, Craun M, Bar-Or R, Maclean KN, Kraus JP (2004) Plasma albumin cysteinylation is regulated by cystathionine beta-synthase. Biochem Biophys Res Commun 325:1449-53.

  • Linnebank M, Janosik M, Kozich V, Pronicka E, Kubalska J, Sokolova J, Linnebank A, Schmidt E, Leyendecker C, Klockgether T and others. (2004) The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype. Hum Mutat 24:352-3.

  • Pazicni S, Lukat-Rodgers GS, Oliveriusova J, Rees KA, Parks RB, Clark RW, Rodgers KR, Kraus JP, Burstyn JN. (2004) The redox behavior of the heme in cystathionine beta-synthase is sensitive to pH. Biochemistry 43:14684-95.

  • Pazicni S, Cherney MM, Lukat-Rodgers GS, Oliveriusova J, Rodgers KR, Kraus JP, Burstyn JN (2005) The Heme of Cystathionine beta-synthase Likely Undergoes a Thermally Induced Redox-Mediated Ligand Switch. Biochemistry 44:16785-16795; Chosen as HOT ARTICLE

  • Jiang H, Rao KS, Yee VC, Kraus JP (2005) Characterization of Four Variant Forms of Human Propionyl-CoA Carboxylase Expressed in Escherichia coli. J Biol Chem 280:27719-27727

  • Katsushima F, Oliveriusova J, Sakamoto O, Ohura T, Kondo Y, Iinuma K, Kraus E, Stouracova R, Kraus JP (2005) Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria. Mol Genet Metab. 87:323-328

  • Frank N, Kery V, Maclean KN, Kraus JP (2006) Solvent accessible cysteines in human cystathionine ß-synthase: Crucial role of cysteine 431 in S-adenosyl-L-methionine binding. Biochemistry, 45:11021-11029.

  • Bermúdez M, Frank N, Bernal J, Urreizti R, Briceno I, Merinero B, Perez-Cerdá C, Ugarte M, Grinberg D, Balcells S, Kraus JP (2006) High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia. Hum Mutat. 27:296.

  • Vyletal P, Sokolová J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F , Wilcken B, Wilcken DE, Andria G, Sebastio G , Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Ko ich V. (2007) Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. Hum Mutat. 28:255-264

  • Pong WW, Stouracova R, Frank N, Kraus JP, Eldred WD (2007) Comparative localization of cystathionine beta-synthase and cystathionine gamma-lyase in retina: Differences between amphibians and mammals. J Comp Neurol 505:158-165

  • Cherney MM, Pazicni S, Frank N, Marvin KA, Kraus JP, and Burstyn JN (2007) Ferrous Human Cystathionine ß-synthase Loses Activity During Enzyme Assay Due to a Ligand Switch Process, Biochemistry, 46(45):13199-210

  • Frank, N., Kent JO, Meier M, Kraus JP (2008) Purification and Characterization of the Wild Type and Truncated Human Cystathionine ?-Synthase Enzymes Expressed in E. coli, Arch.Biochem.Biophys., 470:64-72.

  • Maillot F, Kraus JP, Lee PJ (2008) Environmental influences on familial discordance of phenotype in people with homocystinuria: a case report,J Med Case Reports. 2:113.

  • Majtan T, Singh LR, Wang L, Kruger WD, Kraus JP.(2008) Active cystathionine beta-synthase can be expressed in heme-free systems in the presence of metal-substituted porphyrins or a chemical chaperone. J Biol Chem.283(50):34588-95.

  • Jakubowski H, Perla-Kajan J, Finnell RH, Cabrera RM, Wang H, Gupta S, Kruger WD, Kraus JP, Shih DM. (2009) Genetic or nutritional disorders in homocysteine or folate metabolism increase protein N-homocysteinylation in mice. FASEB J. 2009 Feb 9. [Epub ahead of print]

  • Kraus JP, Hasek J, Kozich V, Collard R, Venezia S, Janosikova B, Wang J, Stabler S, Allen RH,Jakobs C, Finn CT, Chien Y-H, Hwu W-L, Hegele RA, Mudd SH.2009.Mol.Genet.Metab.,in press

Publications in PubMed

 

 

Book Chapters

  • Kraus, J.P. Purification of low abundance messenger RNAs by polysome isolation with polyclonal antibodies, in Hybridoma Technology in the Biosciences and Medicine (Springer, T.A., ed.), 1st Edition, Plenum Publishing, pp. 407-418, 1985.
  • Tanaka, K., Matsubara, Y., Indo, Y., Naito, E., Kraus, J., and Ozasa, H. The Acyl-CoA Dehydrogenase Family: Homology and divergence of primary sequence of four acyl-CoA dehydrogenases, and consideration of their functional significance. In: Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects (Tanaka, K., Coates, P.M., eds.), Alan R. Liss, New York, pp.577-598, 1990.
  • Kraus, J.P. Molecular analysis of cystathionine b -synthase - a gene on chromosome 21, in Molecular genetics of chromosome 21 and Down syndrome (Patterson, D. and Epstein, C.J., eds.), Wiley-Liss, New York, pp. 201-214, 1990.
  • Kraus, J.P., and Kozich, V. Pyridoxine responsive and unresponsive homocystinuria, in Proceedings of the 1st International Congress on Vitamins and Biofactors in Life Science (Kobayashi, T., ed.), Ctr. for Academic Pub. Japan, 589-592, 1992.
  • Tahara, T., Kraus, J.P., and Rosenberg, L.E. Direct DNA sequencing of PCR amplified genomic DNA by the Maxam-Gilbert method, in The PCR Technique: DNA Sequencing (Ellingboe, J., Gyllensten, U.B., eds.), Eaton Publishing Co., 27-30, 1992.
  • Whitehead, A.S., Ward, P., Tan, S., Naughten, E., Kraus, J.P., Sellar, G.D., McConnell, D.J., Graham, I., and Gallagher, P.M. The molecular genetics of homocystinuria, hyperhomocysteinaemia, and premature vascular disease in Ireland in Methionine Metabolism: Molecular Mechanisms and Clinical Implications (Mato, J.M. and Caballero, A., eds.), Consejo Superior de Investigaciones Cientificas, 80-83, 1994.
  • Kraus, J.P. Molecular genetics of cystathionine b -synthase in homocystinuria and vascular disease in Homocysteine Metabolism: From Science to Clinical Medicine, (Graham I.,Refsum, H., Rosenberg, I.H.,and Ueland, P.M.,eds.) Kluwer Academic Publishers, Boston, MA, pp.69-76, 1997.
  • Kraus, J.P. Biochemistry and molecular genetics of cystathionine b -synthase in Workshop on Methionine Metabolism: Molecular Mechanisms and Clinical Implications (Mato, J.M. and Caballero, A., eds.), Consejo Superior de Investigaciones Cientificas, Madrid, pp.12-19, 1996.
  • Mudd SH, Levy HL, Kraus JP. Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler K, Vogelstein B (eds). The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp 2007-2056. 2001.
  • Kraus JP, Kozich V (2001) Cystathionine b-Synthase and its Deficiency. In: D.W. Jacobsen, R.Carmel (eds) Homocysteine in Health and Disease, Cambridge University Press, New York, 223-243.
  • Skovby F, Kraus, J.P. (2002) The homocystinurias. In: Royce PM, Steinmann B (eds) Connective Tissue and its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Wiley-Liss, New York, 627-650.
  • Maclean KN, Kraus JP (2004) Hydrogen sulfide production and metabolism in mammalian tissues. In: Wang R (ed) Signal Transduction and the Gasotransmitters, NO, CO, and H2S in Biology and Medicine. Humana Press, Totowa, N.J., p.275-293.