ArticlePloS one2011
Cystathionine beta-synthase deficiency causes fat loss in mice.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 63 citations in OpenAlex.
- Liver-Targeted AAV-DJ-hCBS Therapy Achieves Long-Term Correction of Metabolic Imbalance in CBS-Deficient Mice.International journal of molecular sciences · 2026Article
- Sulfide regulation and catabolism in health and disease.Signal transduction and targeted therapy · 2025Review
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- Cysteine-lowering treatment with mesna against obesity: Proof of concept and results from a human phase I, dose-finding study.Diabetes, obesity & metabolism · 2023Article
- Paracetamol toxicity in classic homocystinuria: Effect ofJIMD reports · 2023Article
- Selective HepaticInternational journal of molecular sciences · 2023Article
- Differential expression of cystathionine beta synthase in adolescents with Down syndrome: impact on adiposity.Journal of diabetes and metabolic disorders · 2022Article
- Inhibition of the 3-mercaptopyruvate sulfurtransferase-hydrogen sulfide system promotes cellular lipid accumulation.GeroScience · 2022Article
- Long-term functional correction of cystathionine β-synthase deficiency in mice by adeno-associated viral gene therapy.Journal of inherited metabolic disease · 2021Article
- Hyperhomocysteinemia: Metabolic Role and Animal Studies with a Focus on Cognitive Performance and Decline-A Review.Biomolecules · 2021Review
- Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.Journal of inherited metabolic disease · 2021Article
- Host cystathionine-γ lyase derived hydrogen sulfide protects against Pseudomonas aeruginosa sepsis.PLoS pathogens · 2021Article
- Regulation of the parental gene GRM4 by circGrm4 RNA transcript and glutamate-mediated neurovascular toxicity in eyes.Molecular and cellular biochemistry · 2021Review
- The Role of HAdvances in experimental medicine and biology · 2021Article
- Hydrogen sulfide regulates insulin secretion and insulin resistance in diabetes mellitus, a new promising target for diabetes mellitus treatment? A review.Journal of advanced research · 2021Review
- Article
- Review
- Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector.Human gene therapy · 2019Article
- Regulators of the transsulfuration pathway.British journal of pharmacology · 2019Review
- Homocysteine regulates fatty acid and lipid metabolism in yeast.The Journal of biological chemistry · 2018Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Cystathionine beta synthase (CBS) is the rate-limiting enzyme responsible for the de novo synthesis of cysteine. Patients with CBS deficiency have greatly elevated plasma total homocysteine (tHcy), decreased levels of plasma total cysteine (tCys), and often a marfanoid appearance characterized by thinness and low body-mass index (BMI). Here, we characterize the growth and body mass characteristics of CBS deficient TgI278T Cbs(-/-) mice and show that these animals have significantly decreased fat mass and tCys compared to heterozygous sibling mice. The decrease in fat mass is accompanied by a 34% decrease in liver glutathione (GSH) along with a significant decrease in liver mRNA and protein for the critical fat biosynthesizing enzyme Stearoyl CoA desaturase-1 (Scd-1). Because plasma tCys has been positively associated with fat mass in humans, we tested the hypothesis that decreased tCys in TgI278T Cbs(-/-) mice was the cause of the lean phenotype by placing the animals on water supplemented with N-acetyl cysteine (NAC) from birth to 240 days of age. Although NAC treatment in TgI278T Cbs(-/-) mice caused significant increase in serum tCys and liver GSH, there was no increase in body fat content or in liver Scd-1 levels. Our results show that lack of CBS activity causes loss of fat mass, and that this effect appears to be independent of low serum tCys.
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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.