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Disease-causing cystathionine beta-synthase linker mutations impair allosteric regulation.
Roman JV, Mascarenhas R, Ceric K, Ballou DP, Banerjee R. Roman JV, et al. J Biol Chem. 2023 Dec;299(12):105449. doi: 10.1016/j.jbc.2023.105449. Epub 2023 Nov 8. J Biol Chem. 2023. PMID: 37949228 Free PMC article.
Cystathionine beta-synthase (CBS) catalyzes the committing step in the transsulfuration pathway, which is important for clearing homocysteine and furnishing cysteine. ...Pre-steady state kinetic analyses reveal that the K384E/N substitutions exh …
Cystathionine beta-synthase (CBS) catalyzes the committing step in the transsulfuration pathway, which is import …
Cystathionine-beta-synthase expression correlates with tumour progression and adverse prognosis in patients with colon cancer.
Hu XJ, Sun Y, Liu GJ, Zhang J, Zhang LX, Peng YH. Hu XJ, et al. J Int Med Res. 2024 Sep;52(9):3000605241263726. doi: 10.1177/03000605241263726. J Int Med Res. 2024. PMID: 39324183 Free PMC article.
OBJECTIVE: To investigate the levels of cystathionine-beta-synthase (CBS) in colon cancer tissues compared with adjacent control tissues; and to examine the relationship between CBS level and clinical characteristics and prognosis. ...There were …
OBJECTIVE: To investigate the levels of cystathionine-beta-synthase (CBS) in colon cancer tissues compared with …
Cystathionine beta-synthase is required for oocyte quality by ensuring proper meiotic spindle assembly.
Cao Y, Zhu X, Zhen P, Tian Y, Ji D, Xue K, Yan W, Chai J, Liu H, Wang W. Cao Y, et al. Cell Prolif. 2022 Dec;55(12):e13322. doi: 10.1111/cpr.13322. Epub 2022 Aug 19. Cell Prolif. 2022. PMID: 36053797 Free PMC article.
OBJECTIVES: Poor oocyte quality is detrimental to fertilization and embryo development, which causes infertility. Cystathionine beta-synthase (CBS) is one of the key enzymes modulating the metabolism of homocysteine (Hcy). Studies have shown tha …
OBJECTIVES: Poor oocyte quality is detrimental to fertilization and embryo development, which causes infertility. Cystathionine be …
CRISPR screening identifies protein methylation and ubiquitination modifications that modulate aflatoxin B1 cytotoxicity.
Yang H, Ji X, Zhong H, Yang X, Hu D, Cai G, Wu Z. Yang H, et al. Sci China Life Sci. 2025 Jul;68(7):2121-2136. doi: 10.1007/s11427-024-2866-1. Epub 2025 Mar 27. Sci China Life Sci. 2025. PMID: 40172759
To deeply understand the host-toxin interaction, we performed CRISPR screening and identified cystathionine beta-synthase (CBS) as a critical host gene affecting AFB(1) cytotoxicity. Mechanistic studies revealed that CBS affects AFB(1)-induced c …
To deeply understand the host-toxin interaction, we performed CRISPR screening and identified cystathionine beta-synthase …
Understanding the Impact of Mutations in the Cystathionine Beta-Synthase Gene: Towards Novel Therapeutics for Homocystinuria.
Majtan T, Mijatovic E, Petrosino M. Majtan T, et al. Mol Cell Biol. 2025;45(8):327-342. doi: 10.1080/10985549.2025.2511338. Epub 2025 Jun 10. Mol Cell Biol. 2025. PMID: 40495464 Free article. Review.
Classical homocystinuria (HCU), an inborn error of sulfur amino acid metabolism, results from cystathionine beta-synthase (CBS) deficiency. CBS regulates methionine conversion into metabolites critical for redox balance (cysteine, glutathione) a …
Classical homocystinuria (HCU), an inborn error of sulfur amino acid metabolism, results from cystathionine beta-synthase …
How to fix a broken protein: restoring function to mutant human cystathionine beta-synthase.
Kruger WD. Kruger WD. Hum Genet. 2022 Jul;141(7):1299-1308. doi: 10.1007/s00439-021-02386-w. Epub 2021 Oct 12. Hum Genet. 2022. PMID: 34636997 Free PMC article. Review.
Inborn errors of metabolism (IEM) comprise a large class of recessive genetic diseases involving disorders of cellular metabolism that tend to be caused by missense mutations in which a single incorrect amino acid is substituted in the polypeptide chain. Cystathionine b …
Inborn errors of metabolism (IEM) comprise a large class of recessive genetic diseases involving disorders of cellular metabolism that tend …
Methionine synthetase A2756G and Cystathionine-beta-synthase 844ins68 polymorphisms and coronary artery disease: A meta-analysis.
Li YY, Wang H, Zhang YY. Li YY, et al. Am J Med Sci. 2025 May;369(5):574-584. doi: 10.1016/j.amjms.2024.11.011. Epub 2024 Nov 26. Am J Med Sci. 2025. PMID: 39608640
OBJECTIVE: Methionine synthetase (MS) A2756G and Cystathionine-beta-synthase (CBS) 844ins68 gene polymorphisms were indicated to be associated with increased coronary artery disease (CAD) risk. ...This meta-analysis aimed to clarify the relationship be …
OBJECTIVE: Methionine synthetase (MS) A2756G and Cystathionine-beta-synthase (CBS) 844ins68 gene polymorphisms w …
Cellular turnover and degradation of the most common missense cystathionine beta-synthase variants causing homocystinuria.
Mijatovic E, Ascenção K, Szabo C, Majtan T. Mijatovic E, et al. Protein Sci. 2024 Aug;33(8):e5123. doi: 10.1002/pro.5123. Protein Sci. 2024. PMID: 39041895 Free PMC article.
Homocystinuria (HCU) due to cystathionine beta-synthase (CBS) deficiency is the most common inborn error of sulfur amino acid metabolism. ...Here, we developed a human HEK293-based cellular model lacking intrinsic CBS and stably overexpressing w …
Homocystinuria (HCU) due to cystathionine beta-synthase (CBS) deficiency is the most common inborn error of sulf …
The disease-linked R336C mutation in cystathionine beta-synthase disrupts communication with the PLP cofactor, yet maintains the enzyme's overall structural integrity.
Conter C, Núñez-Franco R, Al-Sadeq DW, Fernández-Rodríguez C, Goikoetxea-Usandizaga N, Nasrallah GK, Nomikos M, Martinez-Chantar ML, Astegno A, Jiménez-Osés G, Martínez-Cruz LA. Conter C, et al. FEBS J. 2025 Sep;292(18):4933-4954. doi: 10.1111/febs.70116. Epub 2025 May 6. FEBS J. 2025. PMID: 40327797
Cystathionine beta-synthase (CBS) is a pyridoxal-phosphate (PLP)-dependent enzyme essential for the reverse transsulfuration pathway, where homocysteine and serine combine to form cystathionine, the immediate precursor of cysteine. Mutati …
Cystathionine beta-synthase (CBS) is a pyridoxal-phosphate (PLP)-dependent enzyme essential for the reverse tran …
Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?
Kožich V, Majtan T. Kožich V, et al. J Inherit Metab Dis. 2024 Sep;47(5):841-859. doi: 10.1002/jimd.12767. Epub 2024 Jun 14. J Inherit Metab Dis. 2024. PMID: 38873792 Review.
This review summarises progress in the research of homocystinuria (HCU) in the past three decades. HCU due to cystathionine beta-synthase (CBS) was discovered in 1962, and Prof. Jan Peter Kraus summarised developments in the field in the first-ever Kom …
This review summarises progress in the research of homocystinuria (HCU) in the past three decades. HCU due to cystathionine beta …
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