Cystathionine β synthase deficiency affects mouse endochondral ossification [PDF]
The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology, 2004 AbstractCystathionine β synthase (CBS) is a crucial regulator of plasma concentrations of homocysteine. Severe hyperhomocysteinemia due to CBS deficiency confers diverse clinical manifestations, notably characteristic skeletal abnormalities. To investigate this aspect of hyperhomocysteinemia, we analyzed the skeleton of CBS‐deficient mice, a murine ...
Karine, Robert +4 more
openaire +2 more sources
Dental complications in homocystinurias
Molecular Genetics and Metabolism Reports, 2023 Background: Cystathionine beta synthase deficiency (causing classical homocystinuria) has been associated with high-arched palates and crowded teeth, but little has been said about other oral health complications.
Kimberly A. Chapman +4 more
doaj +1 more source
Mucosal acidification increases hydrogen sulfide release through up-regulating gene and protein expressions of cystathionine gamma-lyase in the rat gastric mucosa [PDF]
Iranian Journal of Basic Medical Sciences, 2016 Objective(s): This study was performed to investigate the effects of mucosal acidification on mRNA expression and protein synthesis of cystathionine gamma lyase (CSE), cystathionine beta synthase (CBS), and mucosal release of H2S in gastric mucosa in ...
Seyyed Ali Mard +3 more
doaj
Orphanet Journal of Rare Diseases, 2022 Background Betaine is an “alternate” methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in the liver and kidney.
Apolline Imbard +14 more
doaj +1 more source
Duchenne's muscular dystrophy involves a defective transsulfuration pathway activity
Redox Biology, 2021 Duchenne muscular dystrophy (DMD) is the most frequent X chromosome-linked disease caused by mutations in the gene encoding for dystrophin, leading to progressive and unstoppable degeneration of skeletal muscle tissues.
E. Panza +11 more
doaj +1 more source
Divergent behavior of hydrogen sulfide pools and of the sulfur metabolite lanthionine, a novel uremic toxin, in dialysis patients. [PDF]
, 2016 Dialysis patients display a high cardiovascular mortality, the causes of which are still not completely explained, but are related to uremic toxicity.
Amoresano, A +10 more
core +1 more source
Animal Research and One Health, EarlyView.The transition period in dairy cows, spanning 3 weeks before and after calving, is a critical phase characterized by increased nutrient demands, reduced dry matter intake (DMI), and elevated risk of metabolic disorders such as negative nutrient balance (NNB), lipolysis, proteolysis, and oxidative stress.
Mohammed S. Seleem +5 more
wiley +1 more source
The metIC operon involved in methionine biosynthesis in Bacillus subtilis is controlled by transcription antitermination [PDF]
, 2002 There are two major pathways for methionine biosynthesis in micro-organisms. Little is known about these pathways in Bacillus subtilis. The authors assigned a function to the metI (formerly yjcI) and metC (formerly yjcJ) genes of B.
Auger, S +3 more
core +2 more sources
Role of selenium in the pathophysiology of cardiorenal anaemia syndrome
ESC Heart Failure, Volume 12, Issue 2, Page 770-780, April 2025.Abstract Chronic kidney disease (CKD) and cardiovascular disease (CVD) have multiple bidirectional mechanisms, and anaemia is one of the critical factors that are associated with the progression of the two disorders [referred to as cardiorenal anaemia syndrome (CRAS)].
Shigeyuki Arai +2 more
wiley +1 more source
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America [PDF]
, 2006 Classical homocystinuria is due to cystathionine beta-synthase (CBS) deficiency. More than 130 mutations, which differ in prevalence and severity, have been described at the CBS gene.
Asteggiano, Carla +18 more
core +1 more source