Cystathionine beta-synthase
The CBS gene encodes an enzyme involved in homocystein metabolism. Mutations cause an autosomal recessive deficiency which results in homocysteinuria and thrombosis.
Genetests:
Related Diseases:
References:
1. |
Shan X et al. (1998) Correction of disease-causing CBS mutations in yeast.
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2. |
Sperandeo MP et al. (1995) 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.
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3. |
Chassé JF et al. (1995) Genomic organization of the human cystathionine beta-synthase gene: evidence for various cDNAs.
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4. |
Shih VE et al. (1995) A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
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5. |
Kraus JP et al. (1993) Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells.
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6. |
Kruger WD et al. (1994) A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes.
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7. |
Avramopoulos D et al. (1993) Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region.
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8. |
Kozich V et al. (1993) Molecular defect in a patient with pyridoxine-responsive homocystinuria.
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9. |
Kluijtmans LA et al. (1996) Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
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10. |
Sperandeo MP et al. (1996) A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA.
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11. |
Aral B et al. (1997) Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.
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12. |
None (1997) The structure of a domain common to archaebacteria and the homocystinuria disease protein.
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13. |
Kim CE et al. (1997) Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
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14. |
Chassé JF et al. (1997) Human cystathionine beta-synthase: gene organization and expression of different 5' alternative splicing.
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15. |
Kim YJ et al. (1974) On the mechanism of pyridoxine responsive homocystinuria. II. Properties of normal and mutant cystathionine beta-synthase from cultured fibroblasts.
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16. |
Kraus JP et al. (1998) The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms.
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17. |
Franco RF et al. () Heterogeneous ethnic distribution of the 844ins68 in the cystathionine beta-synthase gene.
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18. |
Kery V et al. (1999) Binding of pyridoxal 5'-phosphate to the heme protein human cystathionine beta-synthase.
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19. |
Bross P et al. (1999) Protein misfolding and degradation in genetic diseases.
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20. |
Shan X et al. (2001) Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.
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21. |
Pogribna M et al. (2001) Homocysteine metabolism in children with Down syndrome: in vitro modulation.
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22. |
Robert K et al. (2003) Expression of the cystathionine beta synthase (CBS) gene during mouse development and immunolocalization in adult brain.
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23. |
Robert K et al. (2003) Altered gene expression in liver from a murine model of hyperhomocysteinemia.
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24. |
Scott JW et al. (2004) CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.
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25. |
Namekata K et al. (2004) Abnormal lipid metabolism in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemia.
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26. |
Gupta S et al. (2008) Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.
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27. |
Skovby F et al. (2010) A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.
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28. |
None (2017) Cystathionine β-synthase deficiency: Of mice and men.
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29. |
Goldstein JL et al. (1972) Cystathionine synthase activity in human lymphocytes: induction by phytohemagglutinin.
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30. |
Kluijtmans LA et al. (1996) Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
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31. |
Skovby F et al. (1984) Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA.
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32. |
Hu FL et al. (1993) Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
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33. |
Gallagher PM et al. (1995) High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients.
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34. |
Sebastio G et al. (1995) The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
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35. |
Watanabe M et al. (1995) Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia.
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36. |
None (1994) Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.
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37. |
Kruger WD et al. (1995) A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
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38. |
Tsai MY et al. (1996) High prevalence of a mutation in the cystathionine beta-synthase gene.
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39. |
Gaustadnes M et al. (1999) Prevalence of congenital homocystinuria in Denmark.
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40. |
Kraus JP et al. (1999) Cystathionine beta-synthase mutations in homocystinuria.
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41. |
Kluijtmans LA et al. (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.
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42. |
Gaustadnes M et al. (2000) Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants.
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43. |
Janosík M et al. (2001) Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
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44. |
Maclean KN et al. (2002) High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
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45. |
Kelly PJ et al. (2003) Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.
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46. |
Kruger WD et al. (2003) Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
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47. |
Wang L et al. (2005) Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
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48. |
Lee SJ et al. (2005) Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
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49. |
Urreizti R et al. (2006) The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
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50. |
Kraus J et al. (1978) Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits.
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51. |
Kozich V et al. (1992) Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.
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52. |
Stubbs L et al. (1990) The alpha-A-crystallin and cystathionine beta-synthase genes are physically very closely linked in proximal mouse chromosome 17.
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53. |
Münke M et al. (1988) The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17.
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54. |
Chadefaux B et al. (1985) Cystathionine beta synthase: gene dosage effect in trisomy 21.
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55. |
Skovby F et al. (1984) Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids.
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56. |
NCBI article
NCBI 875
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57. |
OMIM.ORG article
Omim 613381
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Update: Aug. 14, 2020