ReviewMolecular genetics and metabolism2017
Cystathionine β-synthase deficiency: Of mice and men.
Review in Molecular genetics and metabolism, 2017. 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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Who cites it
33 citing papers in PubMed, 63 citations in OpenAlex.
- Recorded ocular diagnoses in adults with homocystinuria: A propensity score-matched cohort study.AJO international · 2026Article
- Liver-Targeted AAV-DJ-hCBS Therapy Achieves Long-Term Correction of Metabolic Imbalance in CBS-Deficient Mice.International journal of molecular sciences · 2026Article
- The Role of Estradiol in Oxidative Stress in Health and Cystathionine ß-Synthase Deficiency: A Mechanistic Model.CPT: pharmacometrics & systems pharmacology · 2026Article
- Hydrogen Sulfide Signaling in Neurodegenerative Movement Disorders.Handbook of experimental pharmacology · 2026Review
- Review
- Article
- Article
- Defective quality control autophagy in Hyperhomocysteinemia promotes ER stress and consequent neuronal apoptosis through proteotoxicity.Cell communication and signaling : CCS · 2023Article
- Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy.Journal of clinical medicine research · 2023Review
- One Carbon Metabolism andLivers · 2022Article
- Differential expression of cystathionine beta synthase in adolescents with Down syndrome: impact on adiposity.Journal of diabetes and metabolic disorders · 2022Article
- Transsulfuration, minor player or crucial for cysteine homeostasis in cancer.Trends in cell biology · 2022Review
- Emerging roles of cystathionine β-synthase in various forms of cancer.Redox biology · 2022Review
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- The Pathophysiology of HBiomolecules · 2022Review
- Host cystathionine-γ lyase derived hydrogen sulfide protects against Pseudomonas aeruginosa sepsis.PLoS pathogens · 2021Article
- Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention.Frontiers in neuroscience · 2021Review
- CRY1-CBS binding regulates circadian clock function and metabolism.The FEBS journal · 2021Article
- Vitamin BOxidative medicine and cellular longevity · 2021Article
- Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Cystathionine β-synthase (CBS) deficiency (Online Mendelian Inheritance in Man [OMIM] 236,200) is an autosomal recessive disorder that is caused by mutations in the CBS gene. It is the most common inborn error of sulfur metabolism and is the cause of classical homocystinuria, a condition characterized by very high levels of plasma total homocysteine and methionine. Although recognized as an inborn error of metabolism over 60years ago, these is still much we do not understand related to how this specific metabolic defect gives rise to its distinct phenotypes. To try and answer these questions, several groups have developed mouse models on CBS deficiency. In this article, we will review various mouse models of CBS deficiency and discuss how these mouse models compare to human CBS deficient patients.
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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.