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Article

Correction of disease-causing CBS mutations in yeast.

Nature genetics - 1 May 1998

Shan X, Kruger W D

Abstract excerpt

Mutations in cystathionine beta-synthase (CBS) are known to cause homocystinuria, a recessive disorder characterized by excessive levels of total homocysteine (tHcy) in plasma. The primary cause of mortality is thromboembolism induced by the excessive tHcy levels. Mild increases in tHcy levels are a significant risk factor in the development of vascular disease in the general population. This can result from...

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Identifiers

PMID: 9590298
DOI: 10.1038/ng0598-91

Genes

CBS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Correction of disease-causing CBS mutations in yeast.PMID 9590298Read ↗

Mutations in the regulatory domain of cystathionine beta-synthase can functionally suppress patient-derived mutations in cisSemantic proximity Read ↗

Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.Semantic proximity Read ↗

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.Semantic proximity Read ↗

Functional characterization of human methylenetetrahydrofolate reductase in Saccharomyces cerevisiae.Semantic proximity Read ↗

Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.Semantic proximity Read ↗

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.Semantic proximity Read ↗

A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.Semantic proximity Read ↗

Surrogate genetics and metabolic profiling for characterization of human disease alleles.Semantic proximity Read ↗

A new mutation trans to I278T cystathionine beta-synthase associated with Factor V Leiden causes mild homocystinuria but severe vascular disease.Semantic proximity Read ↗

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.Semantic proximity Read ↗

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthaseSemantic proximity Read ↗

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.Semantic proximity Read ↗

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