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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
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 …
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
Cystathionine-beta-synthase (CBS)/H2S system promotes lymph node metastasis of esophageal squamous cell carcinoma (ESCC) by activating SIRT1.
Liu Y, Pan L, Li Y, Deng Y, Han X, Fu H, Wang T. Liu Y, et al. Carcinogenesis. 2022 May 19;43(4):382-392. doi: 10.1093/carcin/bgac002. Carcinogenesis. 2022. PMID: 34994384
Previous studies have demonstrated that Cystathionine-beta-synthase (CBS)/H2S system plays important roles in progression of various cancer. ...Functional studies demonstrated that CBS could significantly promote lymph node metastasis of ESCC tu …
Previous studies have demonstrated that Cystathionine-beta-synthase (CBS)/H2S system plays important roles in pr …
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 …
Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.
Wasim M, Khan HN, Ayesha H, Iqbal M, Tawab A, Irfan M, Kanhai W, Goorden SMI, Stroomer L, Salomons G, Vaz FM, Karnebeek CDMV, Awan FR. Wasim M, et al. J Pediatr Endocrinol Metab. 2021 Dec 14;35(3):325-332. doi: 10.1515/jpem-2021-0508. Print 2022 Mar 28. J Pediatr Endocrinol Metab. 2021. PMID: 34905667
BACKGROUND: Classical homocystinuria (HCU) is an autosomal recessive inborn error of metabolism, which is caused by the cystathionine-beta-synthase (CBS: encoded by CBS) deficiency. Symptoms of untreated classical HCU patients include intellectu …
BACKGROUND: Classical homocystinuria (HCU) is an autosomal recessive inborn error of metabolism, which is caused by the cystathionine
Cystathionine beta-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M; E-HOD consortium. Kožich V, et al. J Inherit Metab Dis. 2021 May;44(3):677-692. doi: 10.1002/jimd.12338. Epub 2020 Dec 28. J Inherit Metab Dis. 2021. PMID: 33295057 Free PMC article.
Cystathionine beta-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications. ...A
Cystathionine beta-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental probl
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 …
Understanding the role of R266K mutation in cystathionine beta-synthase (CBS) enzyme: an in silico study.
Bhatt A, Ali ME. Bhatt A, et al. J Biomol Struct Dyn. 2022;40(23):12690-12698. doi: 10.1080/07391102.2021.1975564. Epub 2021 Sep 8. J Biomol Struct Dyn. 2022. PMID: 34495791
Human cystathionine beta-synthase (hCBS) is a Heme-containing, unique pyridoxal 5'-phosphate (PLP) dependent enzyme. CBS catalyzes the bio-chemical condensation reactions in the transsulfuration pathway. ...
Human cystathionine beta-synthase (hCBS) is a Heme-containing, unique pyridoxal 5'-phosphate (PLP) dependent enzyme. …
LncRNA SNHG1 alleviated apoptosis and inflammation during ischemic stroke by targeting miR-376a and modulating CBS/H(2)S pathway.
Lv L, Xi HP, Huang JC, Zhou XY. Lv L, et al. Int J Neurosci. 2021 Dec;131(12):1162-1172. doi: 10.1080/00207454.2020.1782904. Epub 2020 Jul 7. Int J Neurosci. 2021. PMID: 32532171
RESULTS: Our research revealed that mRNA level of SNHG1 and CBS in HCMEC/D3 cells was downregulated while miR-376a was upregulated under OGD conditions. ...Mechanistically, SNHG1 directly targeted miR-376a, and CBS was a target of miR-376a. Moreover, SNHG1 exert its …
RESULTS: Our research revealed that mRNA level of SNHG1 and CBS in HCMEC/D3 cells was downregulated while miR-376a was upregulated un …
19 results