Research Topics
Genomes and GenesSpecies | JAN KRAUSSummaryAffiliation: University of Colorado Health Sciences Center Country: USA Publications
Research Grants
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Detail Information
Publications
The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphismsJ P Kraus
Department of Pediatrics, University of Colorado School of Medicine, Denver, Colorado 80262, USA
Genomics 52:312-24. 1998..Additionally, we report on a number of DNA sequence repeats that are polymorphic in North American and European Caucasians...- Cystathionine beta-synthase mutations in homocystinuriaJ P Kraus
Department of Pediatrics, University of Colorado School of Medicine, Denver 80262, USA
Hum Mutat 13:362-75. 1999..Mutations due to deaminations of methylcytosines represent 53% of all point substitutions in the coding region of the CBS gene... - Solvent-accessible cysteines in human cystathionine beta-synthase: crucial role of cysteine 431 in S-adenosyl-L-methionine bindingNina Frank
Department of Pediatrics, University of Colorado School of Medicine at Fitzsimons, 12800 East 19th Avenue, Mail Stop 8313, P O Box 6511, Aurora, Colorado 80045 0511, USA
Biochemistry 45:11021-9. 2006.... - Ferrous human cystathionine beta-synthase loses activity during enzyme assay due to a ligand switch processMelisa M Cherney
Department of Chemistry, University of Wisconsin, Madison, Wisconsin 53706, USA
Biochemistry 46:13199-210. 2007..The slow and irreversible loss of FeII CBS enzyme activity in vitro resembles protein denaturation, and suggests that a simple regulatory mechanism based on the heme redox state is unlikely... - The dominant role of Sp1 in regulating the cystathionine beta-synthase -1a and -1b promoters facilitates potential tissue-specific regulation by Kruppel-like factorsKenneth N Maclean
Department of Pediatrics, University of Colorado School of Medicine, Denver, Colorado 80262, USA
J Biol Chem 279:8558-66. 2004.... - High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutationsKenneth N Maclean
Department of Pediatrics, University of Colorado School of Medicine, Denver, Colorado, USA
Hum Mutat 19:641-55. 2002.... 
Purification and characterization of the wild type and truncated human cystathionine beta-synthase enzymes expressed in E. coliNina Frank
Department of Pediatrics, University of Colorado School of Medicine, UCHSC, RC1 North, Rm 4128, 12800, Mail Stop 8313, P O Box 6511, Aurora, CO 80045 0511, USA
Arch Biochem Biophys 470:64-72. 2008..The activity of the enzyme was unaffected by the redox status of the heme iron. Finally, we show that CBS is stimulated by S-adenosyl- l-methionine but not its analogs...- Deletion mutagenesis of human cystathionine beta-synthase. Impact on activity, oligomeric status, and S-adenosylmethionine regulationJana Oliveriusova
Department of Pediatrics, University of Colorado School of Medicine, Denver 80262, USA
J Biol Chem 277:48386-94. 2002.... - Active cystathionine beta-synthase can be expressed in heme-free systems in the presence of metal-substituted porphyrins or a chemical chaperoneTomas Majtan
Department of Pediatrics, University of Colorado, Denver, Aurora, Colorado 80045, USA
J Biol Chem 283:34588-95. 2008.... - Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisiaeKenneth N Maclean
Department of Pediatrics, University of Colorado School of Medicine, Denver, Colorado 80262, USA
J Cell Physiol 192:81-92. 2002..Our data indicates that screening compounds for the ability to affect transsulfuration in cultured cell models must take proliferation status into account to avoid masking regulatory interactions that may be of significance in vivo... - Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiencySally P Stabler
Department of Medicine, University of Colorado Health Sciences Center, Denver, CO 80262, USA
Metabolism 51:981-8. 2002.... - Structural insights into mutations of cystathionine beta-synthaseMarkus Meier
, Biozentrum, University of Basel, Klingelbergstrasse 70, CH-4056, Basel, Switzerland
Biochim Biophys Acta 1647:206-13. 2003..We have recently solved the crystal structure of a truncated form of this enzyme, which enables us to correlate some of these mutations with the structure... - Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutationsEdith Wilson Miles
NIDDK, National Institutes of Health, Bethesda, Maryland 20892-0830, USA
J Biol Chem 279:29871-4. 2004 - The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatmentMette Gaustadnes
Cardiovascular Genetics Laboratory, Prince of Wales Hospital, Randwick, New South Wales, Australia
Hum Mutat 20:117-26. 2002..The G307S mutation always resulted in a severe non-responsive phenotype, whereas I278T resulted in a milder B6 responsive phenotype. From our results, we were also able to establish three other mild mutations: P49L, R369C, and V371M... - Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coliHua Jiang
Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado 80045, USA
J Biol Chem 280:27719-27. 2005..The strong favorable effect of the co-expressed chaperone proteins on PCC folding, assembly, and activity suggest that propionic acidemia may be amenable to chaperone therapy... - High prevalence of CBS p.T191M mutation in homocystinuric patients from ColombiaMarta Bermudez
Instituto de Genetica Humana Pontificia Universidad Javeriana, Bogota, Colombia
Hum Mutat 27:296. 2006..T191M mutation, a new mutation, p.A288T, was identified in a single individual. In this paper we present the first characterization, at a molecular level, of patients with homocystinuria from Colombia... - Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversionPetr Vyletal
Center for Applied Genomics, Institute of Inherited Metabolic Disorders, Charles University 1st Faculty of Medicine, Prague, Czech Republic
Hum Mutat 28:255-64. 2007..833C; -] chromosomes may have originated by recurrent gene conversion employing the common nonpathogenic c.[833C; 844_845ins68] chromosomes as templates... - The heme of cystathionine beta-synthase likely undergoes a thermally induced redox-mediated ligand switchSamuel Pazicni
Department of Chemistry, University of Wisconsin Madison, Madison, Wisconsin 53706, USA
Biochemistry 44:16785-95. 2005.... - Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuriaFumio Katsushima
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
Mol Genet Metab 87:323-8. 2006..Patient-derived lymphocytes, however, showed no detectable CBS subunits. As previously hypothesized, the increased aggregation of mutant CBS subunits might be a common pathogenic mechanism in CBS deficiency... - Inhibitory effect of copper on cystathionine beta-synthase activity: protective effect of an analog of the human albumin N-terminusDavid Bar-Or
Department of Trauma Research and Trauma Services, Swedish Medical Center, 501 E. Hampden Avenue, Englewood, CO 80113, USA
Protein Pept Lett 12:271-3. 2005..The use of copper chelators could significantly reduce in vivo homocysteine levels... - Plasma albumin cysteinylation is regulated by cystathionine beta-synthaseDavid Bar-Or
Trauma Research Department, Swedish Medical Center, Englewood, CO, USA
Biochem Biophys Res Commun 325:1449-53. 2004..CysAlb may serve as a biomarker for the severity of gut ischemia, and high Hcy may explain endothelial damage associated with this model. Additionally, active CBS is essential for the formation of CysAlb... - The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuriaStuart J Moat
Cardiovascular Sciences Research Group, University of Wales College of Medicine, Heath Park, Cardiff, UK
Hum Mutat 23:206. 2004..The spectrum of mutations observed in the patients from the UK and US is closer to that which is observed in Northern Europe and bears less resemblance to that observed in Ireland... - Hormonal regulation of cystathionine beta-synthase expression in liverShobhitha Ratnam
Department of Biochemistry, Memorial University of Newfoundland, St John s, Newfoundland A1B 3X9, Canada
J Biol Chem 277:42912-8. 2002..These results show that insulin has a direct role in regulating homocysteine metabolism. Altered insulin levels in diseases such as diabetes may influence homocysteine metabolism by regulating the hepatic transsulfuration pathway... - The redox behavior of the heme in cystathionine beta-synthase is sensitive to pHSamuel Pazicni
Department of Chemistry, University of Wisconsin, Madison, Wisconsin 53706, USA
Biochemistry 43:14684-95. 2004..Given that the redox behavior of the CBS heme appears to be controlled by pH, interplay of pH and oxidation state effects must occur if CBS activity is redox regulated...
Research Grants
- Homocysteine & Heme: A Role in Thrombosis?JAN KRAUS; Fiscal Year: 2009..This project looks at the errors in the CBS protein, and tries to learn from those errors how the protein normally works. ..