ArticleMolecular genetics and metabolism2009
Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.
Article in Molecular genetics and metabolism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
33 citing papers in PubMed, 66 citations in OpenAlex.
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- Glycerol-3-phosphate activates ChREBP, FGF21 transcription and lipogenesis in citrin deficiency.Nature metabolism · 2025Article
- Explore the role of CBS in stomach adenocarcinoma based on the sulfur-containing amino acid metabolism network.Scientific reports · 2025Article
- Functional importance of Ser323 in cysteine desulfhydrase and cystathionine gamma-lyase MccB of Staphylococcus aureus.Journal of microbiology (Seoul, Korea) · 2025Article
- Persulfidation of Human CystathionineAntioxidants (Basel, Switzerland) · 2024Article
- Multiomic screening of invasive GBM cells reveals targetable transsulfuration pathway alterations.The Journal of clinical investigation · 2023Article
- Impact of vitamin B6 deficiency on the severity of diabetic peripheral neuropathy - A cross sectional study.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2023Article
- NOS3 and CTH gene mutations as new molecular markers for detection of lung adenocarcinoma.PeerJ · 2023Article
- Review
- The Expression and Activity of Rhodanese, 3-Mercaptopyruvate Sulfurtransferase, Cystathionine γ-Lyase in the Most Frequently Chosen Cellular Research Models.Biomolecules · 2021Article
- HAntioxidants (Basel, Switzerland) · 2021Article
- Discovery and characterization of small molecule inhibitors of cystathionine gamma-synthase with in planta activity.Plant biotechnology journal · 2021Article
- Neuroprotective Roles of the Reverse Transsulfuration Pathway in Alzheimer's Disease.Frontiers in aging neuroscience · 2021Article
- Cystathionine gamma lyase and hydrogen sulfide: new players in orthodontic root resorption.Annals of translational medicine · 2020Article
- Activation of the reverse transsulfuration pathway through NRF2/CBS confers erastin-induced ferroptosis resistance.British journal of cancer · 2020Article
- Cystathionine as a marker for 1p/19q codeleted gliomas by in vivo magnetic resonance spectroscopy.Neuro-oncology · 2019Article
- Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Article
- Chemical Biology of HChemical reviews · 2018Review
Corrections and comments
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Authors and funding
15 authors at 9 institutions in 5 countries.
Funding
Abstract
We report studies of six individuals with marked elevations of cystathionine in plasma and/or urine. Studies of CTH, the gene that encodes cystathionine gamma-lyase, revealed the presence among these individuals of either homozygous or compound heterozygous forms of a novel large deletion, p.Gly57_Gln196del, two novel missense mutations, c.589C>T (p.Arg197Cys) and c.932C>T (p.Thr311Ile), and one previously reported alteration, c.200C>T (p.Thr67Ile). Another novel missense mutation, c.185G>T (p.Arg62His), was found in heterozygous form in three mildly hypercystathioninemic members of a Taiwanese family. In one severely hypercystathioninemic individual no CTH mutation was found. Brief clinical histories of the cystathioninemic/cystathioninuric patients are presented. Most of the novel mutations were expressed and the CTH activities of the mutant proteins determined. The crystal structure of the human enzyme, hCTH, and the evidence available as to the effects of the mutations in question, as well as those of the previously reported p.Gln240Glu, on protein structure, enzymatic activity, and responsiveness to vitamin B(6) administration are discussed. Among healthy Czech controls, 9.3% were homozygous for CTH c.1208G>T (p.Ser403Ile), previously found homozygously in 7.5% of Canadians for whom plasma total homocysteine (tHcy) had been measured. Compared to wild-type homozygotes, among the 55 Czech c.1208G>T (p.Ser403Ile) homozygotes a greater level of plasma cystathionine was found only after methionine loading. Three of the four individuals homozygous or compound heterozygous for inactivating CTH mutations had mild plasma tHcy elevations, perhaps indicating a cause-and-effect relationship. The experience with the present patients provides no evidence that severe loss of CTH activity is accompanied by adverse clinical effects.
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Registered trials
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