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Jan Kraus

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Yang Su; Katherine M Freeman; Jan P Kraus; Rachel Linck; Tomas Majtan; Sarah Ponter; Judith N Burstyn
Comparative study of enzyme activity and heme reactivity in Drosophila melanogaster and Homo sapiens cystathionine β-synthases.
Aaron T Smith; Daniel J Stevens; Yang Su; Jan P Kraus; Tomas Majtan; Judith N Burstyn
Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase.
Tomas Majtan; Jan P Kraus
Folding and activity of mutant cystathionine β-synthase depends on the position and nature of the purification tag: characterization of the R266K CBS mutant.

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2013: Yang Su; Katherine M Freeman; Jan P Kraus; Rachel Linck; Tomas Majtan; Sarah Ponter; Judith N Burstyn
Comparative study of enzyme activity and heme reactivity in Drosophila melanogaster and Homo sapiens cystathionine β-synthases.
Biochemistry 2013;52(4):741-51.
2012: Aaron T Smith; Daniel J Stevens; Yang Su; Jan P Kraus; Tomas Majtan; Judith N Burstyn
Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase.
Biochemistry 2012;51(32):6360-70.
2012: Tomas Majtan; Jan P Kraus
Folding and activity of mutant cystathionine β-synthase depends on the position and nature of the purification tag: characterization of the R266K CBS mutant.
Protein expression and purification 2012;82(2):317-24.
2011: Aaron T Smith; Tomas Majtan; Katherine M Freeman; Yang Su; Jan P Kraus; Judith N Burstyn
Cobalt cystathionine β-synthase: a cobalt-substituted heme protein with a unique thiolate ligation motif.
Inorganic chemistry 2011;50(10):4417-27.
2011: Tomas Majtan; Katherine M Freeman; Aaron T Smith; Judith N Burstyn; Jan P Kraus
Purification and characterization of cystathionine β-synthase bearing a cobalt protoporphyrin.
Archives of biochemistry and biophysics 2011;508(1):25-30.
2011: Tomas Majtan; Frank E Frerman; Jan P Kraus
Effect of cobalt on Escherichia coli metabolism and metalloporphyrin formation.
Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine 2011;24(2):335-47.
2010: 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; Milan Elleder; Jan P Kraus
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.
Molecular genetics and metabolism 2010;101(2-3):163-71.
2010: Kenneth N Maclean; Jakub Sikora; Viktor Kožich; Hua Jiang; Lori S Greiner; Eva Kraus; Jakub Krijt; Katherine H Overdier; Renata Collard; Gary L Brodsky; Lynne Meltesen; Linda S Crnic; Robert H Allen; Sally P Stabler; Milan Elleder; Rima Rozen; David Patterson; Jan P Kraus
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.
Molecular genetics and metabolism 2010;101(2-3):153-62.
2010: Viktor Kozich; Jitka Sokolová; Veronika Klatovská; Jan Krijt; Miroslav Janosík; Karel Jelínek; Jan P Kraus
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
Human mutation 2010;31(7):809-19.
2010: Tomas Majtan; Lu Liu; John F Carpenter; Jan P Kraus
Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.
The Journal of biological chemistry 2010;285(21):15866-73.
2009: Jan P Kraus; Jindrich Hasek; Viktor Kozich; Renata Collard; Sarah Venezia; Bohumila Janosíková; Jian Wang; Sally P Stabler; Robert H Allen; Cornelis Jakobs; Christine T Finn; Yin-Hsiu Chien; Wuh-Liang Hwu; Robert A Hegele; S Harvey Mudd
Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.
Molecular genetics and metabolism 2009;97(4):250-9.
2008: Tomas Majtan; Laishram R Singh; Liqun Wang; warren kruger; Jan P Kraus
Active cystathionine beta-synthase can be expressed in heme-free systems in the presence of metal-substituted porphyrins or a chemical chaperone.
The Journal of biological chemistry 2008;283(50):34588-95.
2008: Nina Frank; Jana O Kent; Markus Meier; Jan P Kraus
Purification and characterization of the wild type and truncated human cystathionine beta-synthase enzymes expressed in E. coli.
Archives of biochemistry and biophysics 2008;470(1):64-72.
2007: Melisa M Cherney; Samuel Pazicni; Nina Frank; Katherine A Marvin; Jan P Kraus; Judith N Burstyn
Ferrous human cystathionine beta-synthase loses activity during enzyme assay due to a ligand switch process.
Biochemistry 2007;46(45):13199-210.
2007: Winnie W Pong; Renata Stouracova; Nina Frank; Jan P Kraus; William D Eldred
Comparative localization of cystathionine beta-synthase and cystathionine gamma-lyase in retina: differences between amphibians and mammals.
The Journal of comparative neurology 2007;505(2):158-65.
2007: Petr Vyletal; Jitka Sokolová; David N Cooper; Jan P Kraus; Michael Krawczak; Guglielmina Pepe; Olga Rickards; Hans Georg Koch; Michael Linnebank; Leo A J Kluijtmans; Henk J Blom; Godfried H J Boers; Mette Gaustadnes; Flemming Skovby; Bridget Wilcken; David E L Wilcken; Generoso Andria; Gianfranco Sebastio; Eileen Naughten; Sufin Yap; Toshihiro Ohura; Ewa Pronicka; Aranka Laszlo; Viktor Kozich
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Human mutation 2007;28(3):255-64.
2006: Nina Frank; Vladimir Kery; Kenneth N Maclean; Jan P Kraus
Solvent-accessible cysteines in human cystathionine beta-synthase: crucial role of cysteine 431 in S-adenosyl-L-methionine binding.
Biochemistry 2006;45(36):11021-9.
2006: Fumio Katsushima; Jana Oliveriusova; Osamu Sakamoto; Toshihiro Ohura; Yoshiaki Kondo; Kazuie Iinuma; Eva Kraus; Renata Stouracova; Jan P Kraus
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.
Molecular genetics and metabolism 2006;87(4):323-8.
2006: Marta Bermúdez; Nina Frank; Jaime Bernal; Roser Urreizti; Ignacio Briceño; Begoña Merinero; Celia Perez-Cerdá; Magdalena Ugarte; Daniel Grinberg; Susana Balcells; Jan P Kraus
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
Human mutation 2006;27(3):296.
2005: Samuel Pazicni; Melisa M Cherney; Gudrun S Lukat-Rodgers; Jana Oliveriusová; Kenton R Rodgers; Jan P Kraus; Judith N Burstyn
The heme of cystathionine beta-synthase likely undergoes a thermally induced redox-mediated ligand switch.
Biochemistry 2005;44(51):16785-95.
2005: Hua Jiang; K Sudhindra Rao; Vivien C Yee; Jan P Kraus
Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.
The Journal of biological chemistry 2005;280(30):27719-27.
2005: David Bar-Or; Leonard T Rael; Gregory W Thomas; Jan P Kraus
Inhibitory effect of copper on cystathionine beta-synthase activity: protective effect of an analog of the human albumin N-terminus.
Protein and peptide letters 2005;12(3):271-3.
2004: David Bar-Or; C Gerald Curtis; Andrea Sullivan; Leonard T Rael; Gregory W Thomas; Michael L Craun; Raphael Bar-Or; Kenneth N Maclean; Jan P Kraus
Plasma albumin cysteinylation is regulated by cystathionine beta-synthase.
Biochemical and biophysical research communications 2004;325(4):1449-53.
2004: Samuel Pazicni; Gudrun S Lukat-Rodgers; Jana Oliveriusová; Katherine A Rees; Ryan B Parks; Robert W Clark; Kenton R Rodgers; Jan P Kraus; Judith N Burstyn
The redox behavior of the heme in cystathionine beta-synthase is sensitive to pH.
Biochemistry 2004;43(46):14684-95.
2004: Michael Linnebank; Miroslav Janosik; Viktor Kozich; Ewa Pronicka; Jolanta Kubalska; Jitka Sokolova; Anja Linnebank; Eva Schmidt; Christina Leyendecker; Thomas Klockgether; Jan P Kraus; Hans Georg Koch
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.
Human mutation 2004;24(4):352-3.
2004: Kenneth N Maclean; Eva Kraus; Jan P Kraus
The dominant role of Sp1 in regulating the cystathionine beta-synthase -1a and -1b promoters facilitates potential tissue-specific regulation by Kruppel-like factors.
The Journal of biological chemistry 2004;279(10):8558-66.
2003: Markus Meier; Jana Oliveriusova; Jan P Kraus; Peter Burkhard
Structural insights into mutations of cystathionine beta-synthase.
Biochimica et biophysica acta 2003;1647(1-2):206-13.
2003: M Orendác; Jirí Zeman; Sally P Stabler; R H Allen; Jan P Kraus; Olaf Bodamer; Sylvia Stöckler-Ipsiroglu; J Kvasnicka; Viktor Kozich
Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy.
Journal of inherited metabolic disease 2003;26(8):761-73.
2002: Jana Oliveriusová; Vladimir Kery; Kenneth N Maclean; Jan P Kraus
Deletion mutagenesis of human cystathionine beta-synthase. Impact on activity, oligomeric status, and S-adenosylmethionine regulation.
The Journal of biological chemistry 2002;277(50):48386-94.
2002: Shobhitha Ratnam; Kenneth N Maclean; René L Jacobs; Margaret E Brosnan; Jan P Kraus; John T Brosnan
Hormonal regulation of cystathionine beta-synthase expression in liver.
The Journal of biological chemistry 2002;277(45):42912-8.
2002: Sally P Stabler; Clemens Steegborn; Markus C Wahl; Jana Oliveriusova; Jan P Kraus; Robert H Allen; Conrad Wagner; S Harvey Mudd
Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency.
Metabolism: clinical and experimental 2002;51(8):981-8.
2002: Mette Gaustadnes; Bridget Wilcken; Jana Oliveriusova; Jim McGill; Janice Fletcher; Jan P Kraus; David E L Wilcken
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
Human mutation 2002;20(2):117-26.
2002: Kenneth N Maclean; Miroslav Janosík; Eva Kraus; Viktor Kozich; Robert H Allen; Beverly K Raab; Jan P Kraus
Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisiae.
Journal of cellular physiology 2002;192(1):81-92.
2002: Kenneth N Maclean; Mette Gaustadnes; Jana Oliveriusová; Miroslav Janosík; Eva Kraus; Viktor Kozich; Vladimir Kery; Flemming Skovby; Niels Rüdiger; Jørgen Ingerslev; Sally P Stabler; Robert H Allen; Jan P Kraus
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Human mutation 2002;19(6):641-55.
2002: Maria Chloupkova; Kenneth N Maclean; Asem Alkhateeb; Jan P Kraus
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
Human mutation 2002;19(6):629-40.
2001: Jitka Sokolová; Bohumila Janosíková; Joseph D Terwilliger; T Freiberger; Jan P Kraus; Viktor Kozich
Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.
Human mutation 2001;18(6):548-9.
2001: Miroslav Janosík; Vladimir Kery; Mette Gaustadnes; Kenneth N Maclean; Jan P Kraus
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 2001;40(35):10625-33.
2001: Markus Meier; Miroslav Janosik; Vladimir Kery; Jan P Kraus; Peter Burkhard
Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein.
The EMBO journal 2001;20(15):3910-6.
2001: Miroslav Janosík; Jana Oliveriusová; Bohumila Janosíková; Jitka Sokolová; Eva Kraus; Jan P Kraus; Viktor Kozich
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
American journal of human genetics 2001;68(6):1506-13.
2001: S Vadon-Le Goff; Marcel Delaforge; Jean-Luc Boucher; Miroslav Janosik; Jan P Kraus; Daniel Mansuy
Coordination chemistry of the heme in cystathionine beta-synthase: formation of iron(II)-isonitrile complexes.
Biochemical and biophysical research communications 2001;283(2):487-92.
2001: Michael Linnebank; A Homberger; Jan P Kraus; Erik Harms; Viktor Kozich; Hans Georg Koch
Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12.
Human mutation 2001;17(4):350-1.
2001: Miroslav Janosik; Markus Meier; Vladimir Kery; Jana Oliveriusova; Peter Burkhard; Jan P Kraus
Crystallization and preliminary X-ray diffraction analysis of the active core of human recombinant cystathionine beta-synthase: an enzyme involved in vascular disease.
Acta crystallographica. Section D, Biological crystallography 2001;57(Pt 2):289-91.
2001: Stefano Bruno; Francesca Schiaretti; Peter Burkhard; Jan P Kraus; Miroslav Janosik; Andrea Mozzarelli
Functional properties of the active core of human cystathionine beta-synthase crystals.
The Journal of biological chemistry 2001;276(1):16-9.
2000: Maria Chloupkova; Kirstine Ravn; Marianne Schwartz; Jan P Kraus
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.
Molecular genetics and metabolism 2000;71(4):623-32.
2000: Kenneth N Maclean; Miroslav Janosík; Jana Oliveriusová; Vladimir Kery; Jan P Kraus
Transsulfuration in Saccharomyces cerevisiae is not dependent on heme: purification and characterization of recombinant yeast cystathionine beta-synthase.
Journal of inorganic biochemistry 2000;81(3):161-71.
2000: Kirstine Ravn; Maria Chloupkova; Ernst Christensen; NJ Brandt; Henrik Simonsen; Jan P Kraus; I M Nielsen; Flemming Skovby; Marianne Schwartz
High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.
American journal of human genetics 2000;67(1):203-6.
1999: Leo A J Kluijtmans; Godfried H J Boers; Jan P Kraus; L P van den Heuvel; J R Cruysberg; Frans J M Trijbels; H J Blom
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.
American journal of human genetics 1999;65(1):59-67.
1999: M Orendác; B Musková; E Richterová; Jana Zvárová; M Stefek; E Zaykova; Jan P Kraus; J Stríbrný; Josef Hyánek; Viktor Kozich
Is the common 844ins68 polymorphism in the cystathionine beta-synthase gene associated with atherosclerosis?
Journal of inherited metabolic disease 1999;22(5):674-5.
1999: Vladimir Kery; L Poneleit; Jeffrey D Meyer; Mark C Manning; Jan P Kraus
Binding of pyridoxal 5'-phosphate to the heme protein human cystathionine beta-synthase.
Biochemistry 1999;38(9):2716-24.
1999: Raffaella de Franchis; Eva Kraus; Viktor Kozich; Gianfranco Sebastio; Jan P Kraus
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype.
Human mutation 1999;13(6):453-7.
1999: Jan P Kraus; Miroslav Janosík; Viktor Kozich; R Mandell; Vivian E Shih; Maria Pia Sperandeo; Gianfranco Sebastio; Raffaella de Franchis; Generoso Andria; Leo A J Kluijtmans; H Blom; Godfried H J Boers; Ross B Gordon; P Kamoun; M Y Tsai; warren kruger; Hans Georg Koch; T Ohura; Mette Gaustadnes
Cystathionine beta-synthase mutations in homocystinuria.
Human mutation 1999;13(5):362-75.
1998: Jan P Kraus; Jana Oliveriusová; Jitka Sokolová; Eva Kraus; Cestmir Vlcek; Raffaella de Franchis; Kenneth N Maclean; L Bao; D Patterson; Václav Paces; Wilhelm Ansorge; Viktor Kozich
The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms.
Genomics 1998;52(3):312-24.
1998: Mette Gaustadnes; Leo A J Kluijtmans; O K Jensen; K Rasmussen; Sandra G Heil; Jan P Kraus; H J Blom; Jørgen Ingerslev; Niels Rüdiger
Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.
FEBS letters 1998;431(2):175-9.
1998: Vladimir Kery; L Poneleit; Jan P Kraus
Trypsin cleavage of human cystathionine beta-synthase into an evolutionarily conserved active core: structural and functional consequences.
Archives of biochemistry and biophysics 1998;355(2):222-32.
1998: Jan P Kraus
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
European journal of pediatrics 1998;157 Suppl 2():S50-3.
1998: L Bao; Cestmir Vlcek; Václav Paces; Jan P Kraus
Identification and tissue distribution of human cystathionine beta-synthase mRNA isoforms.
Archives of biochemistry and biophysics 1998;350(1):95-103.
1998: Ross B Gordon; A J Cox; Paul A Dawson; Brett Emmerson; Jan P Kraus; N P Dudman
Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online.
Human mutation 1998;11(4):332.
1997: Aichun Dong; Vladimir Kery; JE Matsuura; Mark C Manning; Jan P Kraus; John F Carpenter
Secondary structure of recombinant human cystathionine beta-synthase in aqueous solution: effect of ligand binding and proteolytic truncation.
Archives of biochemistry and biophysics 1997;344(1):125-32.
1997: Viktor Kozich; Miroslav Janosík; Jitka Sokolová; Jana Oliveriusová; M Orendác; Jan P Kraus; Daniel Elleder
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.
Journal of inherited metabolic disease 1997;20(3):363-6.
1997: Paul A Dawson; A J Cox; Brett Emmerson; N P Dudman; Jan P Kraus; Ross B Gordon
Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
European journal of human genetics : EJHG 1997;5(1):15-21.
1996: M D Roper; J R Straubhaar; Eva Kraus; Jitka Sokolová; Martin Hrebícek; Jan P Kraus
Comparison of the 5' end of the rat and mouse cystathionine beta-synthase genes.
Mammalian genome : official journal of the International Mammalian Genome Society 1996;7(10):754-7.
1996: Leo A J Kluijtmans; Godfried H J Boers; E M Stevens; W O Renier; Jan P Kraus; Frans J M Trijbels; L P van den Heuvel; Henk J Blom
Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
The Journal of clinical investigation 1996;98(2):285-9.
1996: Paul A Dawson; D A Cochran; Brett Emmerson; Jan P Kraus; Nicholas P B Dudman; Ross B Gordon
Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
Australian and New Zealand journal of medicine 1996;26(2):180-5.
1996: T L Kelson; T Ohura; Jan P Kraus
Chaperonin-mediated assembly of wild-type and mutant subunits of human propionyl-CoA carboxylase expressed in Escherichia coli.
Human molecular genetics 1996;5(3):331-7.
1995: V E Shih; J M Fringer; R Mandell; Jan P Kraus; G T Berry; R A Heidenreich; Mark S Korson; Harvey L Levy; Vijaya Ramesh
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
American journal of human genetics 1995;57(1):34-9.
1995: Gianfranco Sebastio; Maria Pia Sperandeo; M Panico; Raffaella de Franchis; Jan P Kraus; Generoso Andria
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
American journal of human genetics 1995;56(6):1324-33.
1995: Viktor Kozich; Eva Kraus; Raffaella de Franchis; B Fowler; Godfried H J Boers; I Graham; Jan P Kraus
Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.
Human molecular genetics 1995;4(4):623-9.
1995: Vladimir Kery; Daniel Elleder; Jan P Kraus
Delta-aminolevulinate increases heme saturation and yield of human cystathionine beta-synthase expressed in Escherichia coli.
Archives of biochemistry and biophysics 1995;316(1):24-9.
1995: Maria Pia Sperandeo; M Panico; A Pepe; M Candito; Raffaella de Franchis; Jan P Kraus; Generoso Andria; Gianfranco Sebastio
Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.
Journal of inherited metabolic disease 1995;18(2):211-4.
1994: Vladimir Kery; G Bukovska; Jan P Kraus
Transsulfuration depends on heme in addition to pyridoxal 5'-phosphate. Cystathionine beta-synthase is a heme protein.
The Journal of biological chemistry 1994;269(41):25283-8.
1994: G Bukovska; Vladimir Kery; Jan P Kraus
Expression of human cystathionine beta-synthase in Escherichia coli: purification and characterization.
Protein expression and purification 1994;5(5):442-8.
1994: Raffaella de Franchis; Viktor Kozich; R R McInnes; Jan P Kraus
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.
Human molecular genetics 1994;3(7):1103-8.
1994: Jan P Kraus
Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.
Journal of inherited metabolic disease 1994;17(4):383-90.
1993: F L Hu; Z Gu; Viktor Kozich; Jan P Kraus; Vijaya Ramesh; V E Shih
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
Human molecular genetics 1993;2(11):1857-60.
1993: Jan P Kraus; K Le; M Swaroop; T Ohura; T Tahara; L E Rosenberg; M D Roper; Viktor Kozich
Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells.
Human molecular genetics 1993;2(10):1633-8.
1993: Viktor Kozich; Raffaella de Franchis; Jan P Kraus
Molecular defect in a patient with pyridoxine-responsive homocystinuria.
Human molecular genetics 1993;2(6):815-6.
1993: Jan P Kraus; T Tahara
Direct DNA sequencing of polymerase chain reaction-amplified genomic DNA by Maxam-Gilbert method.
Methods in enzymology 1993;218():227-33.
1993: T Tahara; Jan P Kraus; T Ohura; L E Rosenberg; Wayne A Fenton
Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.
Journal of inherited metabolic disease 1993;16(2):353-60.
1992: M D Roper; Jan P Kraus
Rat cystathionine beta-synthase: expression of four alternatively spliced isoforms in transfected cultured cells.
Archives of biochemistry and biophysics 1992;298(2):514-21.
1992: M Swaroop; K Bradley; T Ohura; T Tahara; M D Roper; L E Rosenberg; Jan P Kraus
Rat cystathionine beta-synthase. Gene organization and alternative splicing.
The Journal of biological chemistry 1992;267(16):11455-61.
1992: Viktor Kozich; Jan P Kraus
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.
Human mutation 1992;1(2):113-23.
1992: Jan P Kraus; Viktor Kozich
Pyridoxine responsive and unresponsive homocystinuria.
Journal of nutritional science and vitaminology 1992;Spec No():589-92.
1990: T Tahara; Jan P Kraus; L E Rosenberg
An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(4):1372-6.
1990: Joseph Locker; Thomas J Gill; Jan P Kraus; T Ohura; M Swarop; Michèle Rivière; M Q Islam; Göran Levan; Josiane Szpirer; Claude Szpirer
The rat MHC and cystathionine beta-synthase gene are syntenic on chromosome 20.
Immunogenetics 1990;31(4):271-4.
1990: Jan P Kraus
Molecular analysis of cystathionine beta-synthase--a gene on chromosome 21.
Progress in clinical and biological research 1990;360():201-14.
1989: T Ohura; Jan P Kraus; L E Rosenberg
Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.
American journal of human genetics 1989;45(1):33-40.
1989: Claude Szpirer; Jan P Kraus; Michèle Rivière; M Swaroop; T Ohura; Y Matsubara; Josiane Szpirer; M Q Islam; Göran Levan
Assignment of the rat genes coding for medium-chain acyl-CoA dehydrogenase, isovaleryl-CoA dehydrogenase, and the beta subunit of propionyl-CoA carboxylase to chromosomes 2, 3, and 8, respectively.
Cytogenetics and cell genetics 1989;50(1):23-6.
1988: Jan P Kraus; J Novotný; F Kalousek; M Swaroop; L E Rosenberg
Different structures in the amino-terminal domain of the ornithine transcarbamylase leader peptide are involved in mitochondrial import and carboxyl-terminal cleavage.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(23):8905-9.
1988: M Münke; Jan P Kraus; T Ohura; U Francke
The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17.
American journal of human genetics 1988;42(4):550-9.
1987: E S Sztul; J P Hendrick; Jan P Kraus; D Wall; F Kalousek; L E Rosenberg
Import of rat ornithine transcarbamylase precursor into mitochondria: two-step processing of the leader peptide.
The Journal of cell biology 1987;105(6 Pt 1):2631-9.
1987: Jan P Kraus; Y Matsubara; David Barton; TL Yang-Feng; R Glassberg; M Ito; Y Ikeda; J Mole; U Francke; K Tanaka
Isolation of cDNA clones coding for rat isovaleryl-CoA dehydrogenase and assignment of the gene to human chromosome 15.
Genomics 1987;1(3):264-9.
1987: Y Matsubara; Jan P Kraus; H Ozasa; R Glassberg; G Finocchiaro; Y Ikeda; J Mole; L E Rosenberg; K Tanaka
Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat liver medium chain acyl coenzyme A dehydrogenase.
The Journal of biological chemistry 1987;262(21):10104-8.
1987: W A Fenton; A M Hack; Jan P Kraus; L E Rosenberg
Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.
Proceedings of the National Academy of Sciences of the United States of America 1987;84(5):1421-4.
1986: Jan P Kraus; Frank Firgaira; J Novotný; F Kalousek; K R Williams; C Williamson; T Ohura; L E Rosenberg
Coding sequence of the precursor of the beta subunit of rat propionyl-CoA carboxylase.
Proceedings of the National Academy of Sciences of the United States of America 1986;83(21):8049-53.
1986: Jan P Kraus; C L Williamson; Frank Firgaira; T L Yang-Feng; M Münke; U Francke; L E Rosenberg
Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase.
Proceedings of the National Academy of Sciences of the United States of America 1986;83(7):2047-51.
1986: L E Rosenberg; W A Fenton; Arthur L Horwich; F Kalousek; Jan P Kraus
Targeting of nuclear-encoded proteins to the mitochondrial matrix: implications for human genetic defects.
Annals of the New York Academy of Sciences 1986;488():99-108.
1985: Jan P Kraus; P E Hodges; C L Williamson; Arthur L Horwich; F Kalousek; K R Williams; L E Rosenberg
A cDNA clone for the precursor of rat mitochondrial ornithine transcarbamylase: comparison of rat and human leader sequences and conservation of catalytic sites.
Nucleic acids research 1985;13(3):943-52.
1984: Frank Firgaira; J P Hendrick; F Kalousek; Jan P Kraus; L E Rosenberg
RNA required for import of precursor proteins into mitochondria.
Science (New York, N.Y.) 1984;226(4680):1319-22.
1984: Arthur L Horwich; W A Fenton; K R Williams; F Kalousek; Jan P Kraus; R F Doolittle; W Konigsberg; L E Rosenberg
Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.
Science (New York, N.Y.) 1984;224(4653):1068-74.
1983: Arthur L Horwich; Jan P Kraus; K Williams; F Kalousek; W Konigsberg; L E Rosenberg
Molecular cloning of the cDNA coding for rat ornithine transcarbamoylase.
Proceedings of the National Academy of Sciences of the United States of America 1983;80(14):4258-62.
1983: Jan P Kraus; F Kalousek; L E Rosenberg
Biosynthesis and mitochondrial processing of the beta subunit of propionyl coenzyme A carboxylase from rat liver.
The Journal of biological chemistry 1983;258(12):7245-8.