ArticleProceedings of the National Academy of Sciences of the United States of America1994
A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 75 citations in OpenAlex.
- Impact of primary sequence changes on the self-association properties of mammalian cystathionine beta-synthase enzymes.Protein science : a publication of the Protein Society · 2024Article
- Cellular turnover and degradation of the most common missense cystathionine beta-synthase variants causing homocystinuria.Protein science : a publication of the Protein Society · 2024Article
- How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.Human genetics · 2022Review
- Long-term functional correction of cystathionine β-synthase deficiency in mice by adeno-associated viral gene therapy.Journal of inherited metabolic disease · 2021Article
- HPharmacological research · 2020Review
- A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.Genome medicine · 2020Article
- Phylogenetic debugging of a complete human biosynthetic pathway transplanted into yeast.Nucleic acids research · 2020Article
- Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector.Human gene therapy · 2019Article
- In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.Human mutation · 2019Article
- S-adenosylhomocysteine hydrolase over-expression does not alter S-adenosylmethionine or S-adenosylhomocysteine levels in CBS deficient mice.Molecular genetics and metabolism reports · 2018Article
- The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.Human mutation · 2017Article
- An extended set of yeast-based functional assays accurately identifies human disease mutations.Genome research · 2016Article
- Efforts to make and apply humanized yeast.Briefings in functional genomics · 2016Review
- Article
- Contemporary, yeast-based approaches to understanding human genetic variation.Current opinion in genetics & development · 2013Review
- Mono and dual cofactor dependence of human cystathionine β-synthase enzyme variants in vivo and in vitro.G3 (Bethesda, Md.) · 2013Article
- Surrogate genetics and metabolic profiling for characterization of human disease alleles.Genetics · 2012Article
- A systematic analysis of cell cycle regulators in yeast reveals that most factors act independently of cell size to control initiation of division.PLoS genetics · 2012Article
- Extracellular transsulfuration generates hydrogen sulfide from homocysteine and protects endothelium from redox stress.American journal of physiology. Heart and circulatory physiology · 2010Article
- Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.PLoS genetics · 2010Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Human cystathionine beta-synthase (CBS; EC 4.2.1.22) deficiency results in a recessive genetic disorder whose clinical and biochemical manifestations vary greatly among affected individuals. In an effort to identify and analyze mutations in the human CBS gene, we have developed a yeast expression system for human CBS. We have cloned and sequenced a human cDNA that codes for CBS and have expressed the human CBS protein in yeast cells lacking endogenous CBS. The human enzyme produced in yeast is functional both in vitro and in vivo. We have also cloned and sequenced the yeast gene, CYS4, that codes for CBS. The predicted human and yeast CBS proteins are 38% identical and 72% similar to each other, as well as sharing significant similarity with bacterial cysteine synthase. These results demonstrate the evolutionary conservation of CBS and establish the utility of a yeast expression system for studying human CBS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.