Homocystinuria due to cystathionine beta synthase deficiency
Indian Journal of Dermatology, Venereology and Leprology, 2008 A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and finger spasms. Biochemical findings include increased levels of homocysteine in the blood-106.62 micromol/L (normal levels: 5.90-16 micromol/L).
Rao, T Narayana +4 more
openaire +2 more sources
The Quantitative Significance of the Transsulfuration Enzymes for H2S Production in Murine Tissues [PDF]
, 2011 The enzymes of the transsulfuration pathway, cystathionine --synthase (CBS) and cystathionine --lyase (CSE), are important for the endogenous production of hydrogen sulfide (H2S), a gaseous signaling molecule. The relative contributions of CBS and CSE to
Kery V +6 more
core +1 more source
Endosymbiosis in trypanosomatids: the genomic cooperation between bacterium and host in the synthesis of essential amino acids is heavily influenced by multiple horizontal gene transfers [PDF]
, 2013 Background Trypanosomatids of the genera Angomonas and Strigomonas live in a mutualistic association characterized by extensive metabolic cooperation with obligate endosymbiotic Betaproteobacteria.
Alves, João M.P. +10 more
core +5 more sources
Frequent epigenetic silencing of the folate-metabolising gene cystathionine-beta-synthase in gastrointestinal cancer. [PDF]
PLoS ONE, 2012 Both gastric and colorectal cancers (CRC) are the most frequently occurring malignancies worldwide with the overall survival of these patients remains unsatisfied.
Hong Zhao +10 more
doaj +1 more source
Functional characterization and structure-guided mutational analysis of the transsulfuration enzyme cystathionine γ-lyase from toxoplasma gondii [PDF]
, 2018 Sulfur-containing amino acids play essential roles in many organisms. The protozoan parasite Toxoplasma gondii includes the genes for cystathionine β-synthase and cystathionine γ-lyase (TgCGL), as well as for cysteine synthase, which are crucial enzymes ...
Astegno, A. +6 more
core +2 more sources
A continuous spectrophotometric assay for human cystathionine beta-synthase [PDF]
Analytical Biochemistry, 2005 We report a new continuous spectrophotometric assay for human cystathionine beta-synthase (hCBS). This assay relies upon the finding that hCBS will take cysteamine in place of L-homocysteine, thereby producing thialysine. Thialysine is, in turn, decarboxylated by lysine decarboxylase, releasing CO2 that is monitored by the sequential action of ...
Weijun, Shen +3 more
openaire +2 more sources
Isolated aortic root dilation in homocystinuria [PDF]
, 2017 BACKGROUND: Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta.
Davison, JE +8 more
core +2 more sources
Chemical Proteomics Identifies Ketogenesis‐Mediated Cysteine Modifications Regulating Redox Function
Angewandte Chemie, EarlyView.Herein, we report ketone body induce cysteine modifications beyond lysine acylation, as revealed by integrating chemical proteomics with open‐search methods. Among the modifications, cysteine crotonation (Ccr) was chemically validated by endogenous peptide‐based co‐elution assays.
Yuan‐Fei Zhou +8 more
wiley +2 more sources
Hydrogen sulfide pathway and skeletal muscle: an introductory review. [PDF]
, 2018 The presence of the H2 S pathway in skeletal muscle (SKM) has recently been established. SKM expresses the three constitutive H2 S-generating enzymes in animals and humans, and it actively produces H2 S.
Armogida Chiara +2 more
core +4 more sources
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula [PDF]
, 2015 Acessível em: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375120/Homocystinuria due to cystathionine β-synthase deficiency or "classical homocystinuria" is a rare autosomal recessive condition resulting in altered sulfur metabolism with elevated ...
E Martins +25 more
core +1 more source