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.

PubWeight™: 1.48‹?› | Rank: Top 4%

🔗 View Article (PMC 1378075)

Published in Am J Hum Genet on July 01, 1999

Authors

L A Kluijtmans1, G H Boers, J P Kraus, L P van den Heuvel, J R Cruysberg, F J Trijbels, H J Blom

Author Affiliations

1: Departments of Pediatrics, University Hospital Nijmegen, The Netherlands.

Articles citing this

Homocysteine and cardiovascular disease: evidence on causality from a meta-analysis. BMJ (2002) 7.14

Folic acid, homocysteine, and cardiovascular disease: judging causality in the face of inconclusive trial evidence. BMJ (2006) 1.93

Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. Am J Hum Genet (2001) 1.29

Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research. Am J Physiol Heart Circ Physiol (2010) 1.23

Chemical chaperone rescue of mutant human cystathionine beta-synthase. Mol Genet Metab (2007) 1.14

Reconciling the evidence on serum homocysteine and ischaemic heart disease: a meta-analysis. PLoS One (2011) 1.09

Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene. J Pediatr (2008) 1.08

Hydrogen sulfide maintains mesenchymal stem cell function and bone homeostasis via regulation of Ca(2+) channel sulfhydration. Cell Stem Cell (2014) 1.01

Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. Hum Mutat (2010) 0.94

Surrogate genetics and metabolic profiling for characterization of human disease alleles. Genetics (2012) 0.94

Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke. PLoS Genet (2014) 0.93

Hyperhomocysteinemia and central retinal vein occlusion in Iranian population. Int Ophthalmol (2007) 0.85

Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis (2002) 0.84

Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children. Behav Brain Funct (2005) 0.82

Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency. J Inherit Metab Dis (2008) 0.78

Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family. JIMD Rep (2013) 0.78

Management and Prevention of Stroke Associated with Elevated Homocysteine. Curr Treat Options Cardiovasc Med (2002) 0.77

Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors. Hum Mutat (2013) 0.77

Hyperhomocysteinemia: a renal and cardiovascular risk factor? Nat Rev Nephrol (2010) 0.77

Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins. Gene (2013) 0.75

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis (2016) 0.75

Articles cited by this

Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem (1987) 281.19

A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res (1988) 77.80

The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet (1985) 4.60

Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch Dis Child (1962) 4.02

HOMOCYSTINURIA: AN ENZYMATIC DEFECT. Science (1964) 3.63

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet (1996) 2.68

Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosis. N Engl J Med (1996) 2.38

Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria. Science (1968) 1.89

The natural history of vascular disease in homocystinuria and the effects of treatment. J Inherit Metab Dis (1997) 1.51

HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHETASE DEFICIENCY: THE MODE OF INHERITANCE. Science (1964) 1.50

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. Am J Hum Genet (1995) 1.44

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. J Clin Invest (1996) 1.42

Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. Hum Mutat (1992) 1.39

Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts. J Clin Invest (1978) 1.35

Three different methods for the determination of total homocysteine in plasma. Ann Clin Biochem (1995) 1.30

Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits. J Biol Chem (1978) 1.30

A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. Hum Mol Genet (1995) 1.24

The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. Am J Hum Genet (1988) 1.18

Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts. Hum Genet (1985) 1.17

Unique efficiency of methionine metabolism in premenopausal women may protect against vascular disease in the reproductive years. J Clin Invest (1983) 1.13

Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria. Hum Mol Genet (1997) 1.13

Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system. Hum Mol Genet (1994) 1.11

Cystathionine synthase activity in human lymphocytes: induction by phytohemagglutinin. J Clin Invest (1972) 1.04

High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients. Hum Mutat (1995) 1.03

A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. Am J Hum Genet (1995) 1.02

Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. Hum Mol Genet (1994) 1.00

Biochemistry and molecular genetics of cystathionine beta-synthase deficiency. Eur J Pediatr (1998) 0.87

Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis. Blood (1998) 0.82

Articles by these authors

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet (1995) 17.27

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet (1995) 5.58

A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet (1998) 4.96

The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet (1985) 4.60

Hyperhomocysteinemia as a risk factor for deep-vein thrombosis. N Engl J Med (1996) 4.11

Plasma homocysteine as a risk factor for vascular disease. The European Concerted Action Project. JAMA (1997) 3.87

Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Science (1984) 3.56

The Charles Bonnet syndrome: a large prospective study in The Netherlands. A study of the prevalence of the Charles Bonnet syndrome and associated factors in 500 patients attending the University Department of Ophthalmology at Nijmegen. Br J Psychiatry (1995) 3.36

[Hemopyrrollactamuria (HPU); from spots to pseudo-disease]. Ned Tijdschr Geneeskd (2003) 3.27

Protection against lethal Sendai virus infection by in vivo priming of virus-specific cytotoxic T lymphocytes with a free synthetic peptide. Proc Natl Acad Sci U S A (1991) 3.15

[Prevention of neural tube defects using folic acid]. Ned Tijdschr Geneeskd (1993) 3.05

Purification of low-abundance messenger RNAs from rat liver by polysome immunoadsorption. Proc Natl Acad Sci U S A (1982) 2.81

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet (2001) 2.80

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet (1996) 2.68

Visual hallucinations in psychologically normal people: Charles Bonnet's syndrome. Lancet (1996) 2.67

Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease. N Engl J Med (1985) 2.49

Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet (1995) 2.35

Role of cobalamin intake and atrophic gastritis in mild cobalamin deficiency in older Dutch subjects. Am J Clin Nutr (1998) 2.26

Delay in diagnosis of homocystinuria: retrospective study of consecutive patients. BMJ (1996) 2.21

Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes. Kidney Int (2001) 2.19

Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein. EMBO J (2001) 2.12

Hyperostosis cranialis interna. A new hereditary syndrome with cranial-nerve entrapment. N Engl J Med (1990) 2.07

Is hyperhomocysteinaemia a risk factor for recurrent venous thrombosis? Lancet (1995) 2.00

Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat (1999) 1.96

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. Proc Natl Acad Sci U S A (1986) 1.94

Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. Kidney Int (2007) 1.93

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet (1999) 1.88

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) 1.85

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 U S A (1986) 1.84

Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism (1994) 1.81

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain (2000) 1.75

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol (1999) 1.72

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat (2000) 1.72

Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study. Arterioscler Thromb Vasc Biol (2001) 1.71

Reduction of anionic sites in the glomerular basement membrane by heparanase does not lead to proteinuria. Kidney Int (2007) 1.70

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet (1994) 1.69

Rat cystathionine beta-synthase. Gene organization and alternative splicing. J Biol Chem (1992) 1.67

Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients. Neurology (1999) 1.67

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. Kidney Int (1998) 1.66

Conditionally immortalized human glomerular endothelial cells expressing fenestrations in response to VEGF. Kidney Int (2006) 1.60

Trypsin cleavage of human cystathionine beta-synthase into an evolutionarily conserved active core: structural and functional consequences. Arch Biochem Biophys (1998) 1.60

Is the common 677C-->T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis. QJM (1997) 1.59

Methotrexate in rheumatoid arthritis: an update with focus on mechanisms involved in toxicity. Semin Arthritis Rheum (1998) 1.59

Genetic characteristics of myoadenylate deaminase deficiency. Ann Neurol (1998) 1.57

Transsulfuration depends on heme in addition to pyridoxal 5'-phosphate. Cystathionine beta-synthase is a heme protein. J Biol Chem (1994) 1.57

5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations are associated with DNA hypomethylation. J Med Genet (2004) 1.53

Homocysteine, vitamin status and risk of vascular disease; effects of gender and menopausal status. European COMAC Group. Eur Heart J (1999) 1.52

Unfiltered coffee increases plasma homocysteine concentrations in healthy volunteers: a randomized trial. Am J Clin Nutr (2000) 1.52

Effects of verocytotoxin-1 on nonadherent human monocytes: binding characteristics, protein synthesis, and induction of cytokine release. Blood (1996) 1.51

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol (2000) 1.47

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem Biophys Res Commun (2000) 1.46

Determinants of plasma homocysteine. Am J Clin Nutr (1998) 1.45

Folate, homocysteine and neural tube defects: an overview. Exp Biol Med (Maywood) (2001) 1.45

Improved vision after intravenous immunoglobulin in stable demyelinating optic neuritis. Ann Neurol (1992) 1.44

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. Am J Hum Genet (1995) 1.44

Cystathionine beta-synthase (human). Methods Enzymol (1987) 1.42

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. J Clin Invest (1996) 1.42

Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview. J Inherit Metab Dis (2006) 1.42

Familial adult-onset muscular dystrophy with leukoencephalopathy. Ann Neurol (1992) 1.40

[Minor symptoms in family practice; keratitis due to ultraviolet rays]. Ned Tijdschr Geneeskd (1992) 1.40

Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. Hum Mutat (1992) 1.39

Molecular cloning of the cDNA coding for rat ornithine transcarbamoylase. Proc Natl Acad Sci U S A (1983) 1.38

Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. Am J Ophthalmol (1991) 1.38

Molecular beacons: a new approach for semiautomated mutation analysis. Clin Chem (1998) 1.37

Coding sequence of the precursor of the beta subunit of rat propionyl-CoA carboxylase. Proc Natl Acad Sci U S A (1986) 1.36

Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import. Proc Natl Acad Sci U S A (1987) 1.35

Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit. Nat Genet (2000) 1.35

Evidence for McKusick's hypothesis of deficient collagen cross-linking in patients with homocystinuria. Biochim Biophys Acta (1996) 1.35

Effects of TNF alpha on verocytotoxin cytotoxicity in purified human glomerular microvascular endothelial cells. Kidney Int (1997) 1.35

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 Res (1985) 1.35

Thermolabile methylenetetrahydrofolate reductase in coronary artery disease. Circulation (1997) 1.35

Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Hum Mol Genet (1993) 1.34

Influence of sulphasalazine, methotrexate, and the combination of both on plasma homocysteine concentrations in patients with rheumatoid arthritis. Ann Rheum Dis (1999) 1.33

Hyperhomocysteinemia in retinal artery and retinal vein occlusion. Am J Ophthalmol (1993) 1.33

Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome. Am J Ophthalmol (2000) 1.32