Results 21 to 30 of about 26,277 (182)

Cystathionine Beta-Synthase [PDF]

Definitions, 2020
CBS1 from Magnaporthe grisea is a structural and functional homolog of the cystathionine beta synthase (CBS) gene from Saccharomyces cerevisiae . Our studies indicated that M.
D. Schomburg, M. Salzmann
semanticscholar   +3 more sources

Cystathionine beta synthase regulates mitochondrial dynamics and function in endothelial cells. [PDF]

FASEB J, 2020
Mutations in the human cystathionine beta synthase (CBS) gene are known to cause endothelial dysfunction responsible for cardiovascular and neurovascular diseases. CBS is the predominant hydrogen sulfide (H2S)‐producing enzyme in endothelial cells (ECs).
Rao G, Murphy B, Dey A, Dwivedi SKD, Zhang Y, Roy RV, Chakraborty P, Bhattacharya R, Mukherjee P.   +8 more
europepmc   +2 more sources

Increased expression of cystathionine beta-synthase and chemokine ligand 21 is closely associated with poor prognosis in extrahepatic cholangiocarcinoma. [PDF]

Medicine (Baltimore), 2020
The expression of Cystathionine beta-synthase (CBS) and Chemokine ligand 21 (CCL21) is associated with the tumorigenesis and progression of a variety of tumors, but whether alterations in their expression levels correlates with the carcinogenesis and ...
Wang L, Yang Z, Wu Z, He J, Xu S, Li D, Zou Q, Yuan Y.   +7 more
europepmc   +2 more sources

Screening of Heteroaromatic Scaffolds against Cystathionine Beta-Synthase Enables Identification of Substituted Pyrazolo[3,4-c]Pyridines as Potent and Selective Orthosteric Inhibitors. [PDF]

Molecules, 2020
Cystathionine β-synthase (CBS) is a key enzyme in the production of the signaling molecule hydrogen sulfide, deregulation of which is known to contribute to a range of serious pathological states.
Fantel AM, Myrianthopoulos V, Georgoulis A, Lougiakis N, Zantza I, Lamprinidis G, Augsburger F, Marakos P, Vorgias CE, Szabo C, Pouli N, Papapetropoulos A, Mikros E.   +12 more
europepmc   +2 more sources

A refined total capsular bag suspension technique for lens subluxation from cystathionine beta-synthase deficiency: A case report and literature review [PDF]

American Journal of Ophthalmology Case Reports
Purpose: To report the application of a refined total capsular bag suspension technique for lens subluxation from Cystathionine beta-synthase (CBS) deficiency.
Yuezhu Lu, Yang Jiang, Zaowen Wang
doaj   +2 more sources

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. [PDF]

JIMD Rep, 2020
CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without
Schwahn BC, Scheffner T, Stepman H, Verloo P, Das AM, Fletcher J, Blom HJ, Benoist JF, Barshop BA, Barea JJ, Feigenbaum A.   +10 more
europepmc   +2 more sources

Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein [PDF]

Biomedicines
Background: Cystathione beta-synthase (CBS) T236N is a novel mutation associated with pyridoxine non-responsiveness, which presents a significant difficulty in the medical treatment of homocystinuria. Reported severe phenotypes in homocystinuria patients
Duaa W. Al-Sadeq, Angelos Thanassoulas, Maria Theodoridou, Gheyath K. Nasrallah, Michail Nomikos   +4 more
doaj   +2 more sources

Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria [PDF]

Biomedicines
Background: Homocystinuria caused by cystathionine β-synthase (CBS) deficiency is the most common congenital disorder related to sulfur amino acid metabolism, manifested by neurological, vascular, and connective tissue involvement.
Xin Liu, Xinhua Liu, Jinfeng Liu, Junhong Guo, Danyao Nie, Jiantao Wang   +5 more
doaj   +2 more sources

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants. [PDF]

Hum Mutat, 2019
Accurate prediction of the impact of genomic variation on phenotype is a major goal of computational biology and an important contributor to personalized medicine.
Kasak L, Bakolitsa C, Hu Z, Yu C, Rine J, Dimster-Denk DF, Pandey G, De Baets G, Bromberg Y, Cao C, Capriotti E, Casadio R, Van Durme J, Giollo M, Karchin R, Katsonis P, Leonardi E, Lichtarge O, Martelli PL, Masica D, Mooney SD, Olatubosun A, Radivojac P, Rousseau F, Pal LR, Savojardo C, Schymkowitz J, Thusberg J, Tosatto SCE, Vihinen M, Väliaho J, Repo S, Moult J, Brenner SE, Friedberg I.   +34 more
europepmc   +2 more sources

Differential expression of cystathionine beta synthase in adolescents with Down syndrome: impact on adiposity. [PDF]

J Diabetes Metab Disord, 2022
Meguid NA, Hemimi M, Ghozlan SAS, Kandeel WA, Hashish AF, Gouda AS, Nazim WS, Mohamed MF.   +7 more
europepmc   +2 more sources