Results 101 to 110 of about 12,769 (186)

Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample [PDF]

, 2018
X-linked adrenoleukodystrophy (X-ALD) is the most common inherited leukodystrophy. Nevertheless, no genotype-phenotype correlation has been established so far.
Aubourg, Patrick, Bao, Xinhua, Cao, Guangna, Köhler, Wolfgang, Linnebank, Michael, Semmler, Alexander, Weller, Michael   +6 more
core  

Hydrogen sulfide and its role in female reproduction

Frontiers in Veterinary Science
Hydrogen sulfide (H2S) is a gaseous signaling molecule produced in the body by three enzymes: cystathionine-β-synthase (CBS), cystathionine-γ-lyase (CSE) and 3-mercaptopyruvate sulfurtransferase (3-MST).
Aneta Pilsova, Zuzana Pilsova, Barbora Klusackova, Natalie Zelenkova, Eva Chmelikova, Pavla Postlerova, Marketa Sedmikova   +6 more
doaj   +1 more source

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

Front Neurosci, 2022
Conan P, Léon A, Caroff N, Rollet C, Chaïr L, Martin J, Bihel F, Mignen O, Voisset C, Friocourt G.   +9 more
europepmc   +1 more source

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   +1 more source

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

Int J Mol Sci, 2022
Conter C, Fruncillo S, Favretto F, Fernández-Rodríguez C, Dominici P, Martínez-Cruz LA, Astegno A.   +6 more
europepmc   +1 more source

Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts [PDF]

, 2011
Aleš Hnízda, Vojtěch Jurga, Kateřina Raková, Viktor Kožich   +3 more
core   +1 more source

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

Int J Mol Sci, 2022
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   +1 more source

Cystathionine Beta-Synthase [PDF]

, 2020
openaire   +1 more source

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

Cell Mol Life Sci, 2022
Petrosino M, Zuhra K, Kopec J, Hutchin A, Szabo C, Majtan T.   +5 more
europepmc   +1 more source

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
Candela E, Zagariello M, Di Natale V, Ortolano R, Righetti F, Assirelli V, Biasucci G, Cassio A, Pession A, Baronio F.   +9 more
europepmc   +1 more source