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Regulation of Human Cystathionine β-Synthase by S-Adenosyl-l-methionine: Evidence for Two Catalytically Active Conformations Involving an Autoinhibitory Domain in the C-Terminal Region

Biochemistry (Easton), 2001-09, Vol.40 (35), p.10625-10633

2001

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The Human Cystathionine β-Synthase (CBS) Gene: Complete Sequence, Alternative Splicing, and Polymorphisms

Genomics (San Diego, Calif.), 1998-09, Vol.52 (3), p.312-324

1998

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Homocystinuria due to cystathionine β‐synthase deficiency: Novel biochemical findings and treatment efficacy

Journal of inherited metabolic disease, 2003-01, Vol.26 (8), p.761-773

2003

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Transsulfuration depends on heme in addition to pyridoxal 5'-phosphate. Cystathionine beta-synthase is a heme protein

The Journal of biological chemistry, 1994-10, Vol.269 (41), p.25283-25288

1994

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Structure of human cystathionine β-synthase: a unique pyridoxal 5′-phosphate-dependent heme protein

The EMBO journal, 2001-08, Vol.20 (15), p.3910-3916

2001

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Propionic acidemia: neonatal versus selective metabolic screening

Journal of inherited metabolic disease, 2012-01, Vol.35 (1), p.41-49

2012

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The Molecular Basis of Cystathionine β-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, 1999-07, Vol.65 (1), p.59-67

1999

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Rat cystathionine beta-synthase. Gene organization and alternative splicing

The Journal of biological chemistry, 1992-06, Vol.267 (16), p.11455-11461

1992

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Reproductive fitness in maternal homocystinuria due to cystathionine β‐synthase deficiency

Journal of inherited metabolic disease, 2002-08, Vol.25 (4), p.299-314

2002

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High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase

American journal of human genetics, 2000-07, Vol.67 (1), p.203-206

2000

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A missense mutation (1278T) in the cystathionine β-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype

American journal of human genetics, 1995-07, Vol.57 (1), p.34-39

1995

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Trypsin Cleavage of Human Cystathionine β-Synthase into an Evolutionarily Conserved Active Core: Structural and Functional Consequences

Archives of biochemistry and biophysics, 1998-07, Vol.355 (2), p.222-232

1998

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Cystathionine β-synthase mutations in homocystinuria

Human mutation, 1999, Vol.13 (5), p.362-375

1999

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Human cystathionine β-synthase cDNA: sequence, alternative splicing and expression in cultured cells

Human molecular genetics, 1993-10, Vol.2 (10), p.1633-1638

1993

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Molecular basis of phenotype expression in homocystinuria

Journal of inherited metabolic disease, 1994-07, Vol.17 (4), p.383-390

Kraus, J. P.

1994

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The gene for cystathionine β-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17

American journal of human genetics, 1988-04, Vol.42 (4), p.550-559

1988

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Biochemistry and molecular genetics of cystathionine beta-synthase deficiency

European journal of pediatrics, 1998-04, Vol.157 Suppl 2 (S2), p.S50-S53

Kraus, J P

1998

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Is the common 844ins68 polymorphism in the cystathionine β‐synthase gene associated with atherosclerosis?

Journal of inherited metabolic disease, 1999-06, Vol.22 (5), p.674-675

1999

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Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria

American journal of human genetics, 2001-06, Vol.68 (6), p.1506-1513

2001

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Hyperhomocysteinemia in premature arterial disease: examination of cystathionine β-synthase alleles at the molecular level

Human molecular genetics, 1995-04, Vol.4 (4), p.623-629

1995

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Molecular basis of cystathionine β-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria

Human molecular genetics, 1993-11, Vol.2 (11), p.1857-1860

1993

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The molecular basis of homocystinuria due to cystathionine β-synthase deficiency in Italian families, and report of four novel mutations

American journal of human genetics, 1995-06, Vol.56 (6), p.1324-1333

1995

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The Dominant Role of Sp1 in Regulating the Cystathionine β-Synthase –1a and –1b Promoters Facilitates Potential Tissue-specific Regulation by Kruppel-like Factors

The Journal of biological chemistry, 2004-03, Vol.279 (10), p.8558-8566

2004

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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, 1987-07, Vol.262 (21), p.10104-10108

1987

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Evidence for the Evolutionary Origin of Human Chromosome 21 from Comparative Gene Mapping in the Cow and Mouse

Proceedings of the National Academy of Sciences - PNAS, 1991-01, Vol.88 (1), p.154-158

1991

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Regulation of Human Cystathionine β-Synthase by S-Adenosyl-l-methionine: Evidence for Two Catalytically Active Conformations Involving an Autoinhibitory Domain in the C-Terminal Region

The Human Cystathionine β-Synthase (CBS) Gene: Complete Sequence, Alternative Splicing, and Polymorphisms

Homocystinuria due to cystathionine β‐synthase deficiency: Novel biochemical findings and treatment efficacy

Transsulfuration depends on heme in addition to pyridoxal 5'-phosphate. Cystathionine beta-synthase is a heme protein

Structure of human cystathionine β-synthase: a unique pyridoxal 5′-phosphate-dependent heme protein

Propionic acidemia: neonatal versus selective metabolic screening

The Molecular Basis of Cystathionine β-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical and Clinical Phenotype and on Response to Treatment

Rat cystathionine beta-synthase. Gene organization and alternative splicing

Reproductive fitness in maternal homocystinuria due to cystathionine β‐synthase deficiency

High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase

A missense mutation (1278T) in the cystathionine β-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype

Trypsin Cleavage of Human Cystathionine β-Synthase into an Evolutionarily Conserved Active Core: Structural and Functional Consequences

Cystathionine β-synthase mutations in homocystinuria

Human cystathionine β-synthase cDNA: sequence, alternative splicing and expression in cultured cells

Molecular basis of phenotype expression in homocystinuria

The gene for cystathionine β-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17

Biochemistry and molecular genetics of cystathionine beta-synthase deficiency

Is the common 844ins68 polymorphism in the cystathionine β‐synthase gene associated with atherosclerosis?

Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria

Hyperhomocysteinemia in premature arterial disease: examination of cystathionine β-synthase alleles at the molecular level

Molecular basis of cystathionine β-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria

The molecular basis of homocystinuria due to cystathionine β-synthase deficiency in Italian families, and report of four novel mutations

The Dominant Role of Sp1 in Regulating the Cystathionine β-Synthase –1a and –1b Promoters Facilitates Potential Tissue-specific Regulation by Kruppel-like Factors

Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat liver medium chain acyl coenzyme A dehydrogenase

Evidence for the Evolutionary Origin of Human Chromosome 21 from Comparative Gene Mapping in the Cow and Mouse

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