Results 11 to 20 of about 975,983 (211)

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. [PDF]

J Inherit Metab Dis, 2017
Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA.   +22 more
europepmc   +10 more sources

H₂S and homocysteine control a novel feedback regulation of cystathionine beta synthase and cystathionine gamma lyase in cardiomyocytes. [PDF]

Sci Rep, 2017
Hydrogen sulfide (H2S), a cardioprotective gas, is endogenously produced from homocysteine by cystathionine beta synthase (CBS) and cystathionine gamma lyase (CSE) enzymes.
Nandi SS, Mishra PK.
europepmc   +5 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   +5 more sources

New insights into the regulation of Cystathionine beta synthase (CBS), an enzyme involved in intellectual deficiency in Down syndrome. [PDF]

Front Neurosci, 2022
Down syndrome (DS), the most frequent chromosomic aberration, results from the presence of an extra copy of chromosome 21. The identification of genes which overexpression contributes to intellectual disability (ID) in DS is important to understand the ...
Conan P, Léon A, Caroff N, Rollet C, Chaïr L, Martin J, Bihel F, Mignen O, Voisset C, Friocourt G.   +9 more
europepmc   +2 more sources

H₂S biogenesis by cystathionine beta-synthase: mechanism of inhibition by aminooxyacetic acid and unexpected role of serine. [PDF]

Cell Mol Life Sci, 2022
Cystathionine beta-synthase (CBS) is a pivotal enzyme of the transsulfuration pathway responsible for diverting homocysteine to the biosynthesis of cysteine and production of hydrogen sulfide (H2S).
Petrosino M, Zuhra K, Kopec J, Hutchin A, Szabo C, Majtan T.   +5 more
europepmc   +2 more sources

Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature. [PDF]

Children (Basel), 2023
Cysthiatonine beta-synthase (CBS) deficiency (CBSD) is an autosomal recessive rare disorder caused by variations on CBS that leads to impaired conversion of homocysteine (Hcy) to cystathionine.
Candela E, Zagariello M, Di Natale V, Ortolano R, Righetti F, Assirelli V, Biasucci G, Cassio A, Pession A, Baronio F.   +9 more
europepmc   +2 more sources

Insights into Domain Organization and Regulatory Mechanism of Cystathionine Beta-Synthase from Toxoplasma gondii. [PDF]

Int J Mol Sci, 2022
Cystathionine beta-synthase (CBS) is a key regulator of homocysteine metabolism. Although eukaryotic CBS have a similar domain architecture with a catalytic core and a C-terminal Bateman module, their regulation varies widely across phyla.
Conter C, Fruncillo S, Favretto F, Fernández-Rodríguez C, Dominici P, Martínez-Cruz LA, Astegno A.   +6 more
europepmc   +2 more sources

Homocysteine Metabolism Pathway Is Involved in the Control of Glucose Homeostasis: A Cystathionine Beta Synthase Deficiency Study in Mouse. [PDF]

Cells, 2022
Cystathionine beta synthase (CBS) catalyzes the first step of the transsulfuration pathway from homocysteine to cystathionine, and its deficiency leads to hyperhomocysteinemia (HHcy) in humans and rodents.
Cruciani-Guglielmacci C, Meneyrol K, Denom J, Kassis N, Rachdi L, Makaci F, Migrenne-Li S, Daubigney F, Georgiadou E, Denis RG, Rodriguez Sanchez-Archidona A, Paul JL, Thorens B, Rutter GA, Magnan C, Le Stunff H, Janel N.   +16 more
europepmc   +2 more sources

Identification of 8-Hydroxyquinoline Derivatives That Decrease Cystathionine Beta Synthase (CBS) Activity. [PDF]

Int J Mol Sci, 2022
CBS encodes a pyridoxal 5′-phosphate-dependent enzyme that catalyses the condensation of homocysteine and serine to form cystathionine. Due to its implication in some cancers and in the cognitive pathophysiology of Down syndrome, the identification of ...
Conan P, Léon A, Gourdel M, Rollet C, Chaïr L, Caroff N, Le Goux N, Le Jossic-Corcos C, Sinane M, Gentile L, Maillebouis L, Loaëc N, Martin J, Vilaire M, Corcos L, Mignen O, Croyal M, Voisset C, Bihel F, Friocourt G.   +19 more
europepmc   +2 more sources

Post-Traumatic Expressions of Aromatase B, Glutamine Synthetase, and Cystathionine-Beta-Synthase in the Cerebellum of Juvenile Chum Salmon, Oncorhynchus keta. [PDF]

Int J Mol Sci
In adult fish, neurogenesis occurs in many areas of the brain, including the cerebellum, with the ratio of newly formed cells relative to the total number of brain cells being several orders of magnitude greater than in mammals.
Pushchina EV, Bykova ME, Varaksin AA.
europepmc   +2 more sources