Journal of Inherited Metabolic Disease, 2023 The loss of cystathionine β‐synthase (CBS), an important homocysteine (Hcy)‐metabolizing enzyme or the loss of PHF8, an important histone demethylase participating in epigenetic regulation, causes severe intellectual disability in humans.
Ł. Witucki, H. Jakubowski
semanticscholar +1 more source
Distribution of two kinds of cystathionine γ-synthase in various bacteria [PDF]
FEMS Microbiology Letters, 1986 Abstract The substrate specificity of cystathionine γ-synthase (EC 4.2.99.9) in various bacteria was examined. O -Succinyl- l -homoserine was used preferably as a substrate by facultative anaerobic Gram-negative bacteria belonging to such genera as Escherichia, Klebsiella, Enterobacter, Citrobacter, Erwinia, Serratia, Proteus and Salmonella .
Hiroshi Kanzaki +3 more
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The Journal of pharmacy and pharmacology, 2021 OBJECTIVES Hydrogen sulfide (H2S) is a neuromodulator that plays a protective role in multiple neurodegenerative diseases including Alzheimer's (AD) and Parkinson's (PD). However, the precise mechanisms underlying its effects against Huntington's disease
Reham A. Mohammed, S. Mansour
semanticscholar +1 more source
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
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CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations [PDF]
, 2004 CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to be regulatory, their exact functions have been unknown.
Anis, Miliea +7 more
core +6 more sources
The endogenous production of hydrogen sulphide in intrauterine tissues [PDF]
, 2009 Background: Hydrogen sulphide is a gas signalling molecule which is produced endogenously from L-cysteine via the enzymes cystathionine beta-synthase (CBS) and cystathionine gamma-lyase (CSE).
Carson, Ray J. +4 more
core +5 more sources
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
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LC-MS proteomics analysis of the iInsulin/IGF-1-deficient Caenorhabditis elegans daf-2(e1370) mutant reveals extensive restructuring of intermediary metabolism [PDF]
, 2014 The insulin/IGF-1 receptor is a major known determinant of dauer formation, stress resistance, longevity, and metabolism in Caenorhabditis elegans. In the past, whole-genome transcript profiling was used extensively to study differential gene expression ...
Braeckman, Bart +7 more
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Dysregulated Choline, Methionine, and Aromatic Amino Acid Metabolism in Patients with Wilson Disease: Exploratory Metabolomic Profiling and Implications for Hepatic and Neurologic Phenotypes. [PDF]
, 2019 Wilson disease (WD) is a genetic copper overload condition characterized by hepatic and neuropsychiatric symptoms with a not well-understood pathogenesis.
Czlonkowska, Anna +6 more
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N-acetylcysteine serves as substrate of 3-mercaptopyruvate sulfurtransferase and stimulates sulfide metabolism in colon cancer cells [PDF]
, 2019 Hydrogen sulfide (H2S) is an endogenously produced signaling molecule. The enzymes 3-mercaptopyruvate sulfurtransferase (MST), partly localized in mitochondria, and the inner mitochondrial membrane-associated sulfide:quinone oxidoreductase (SQR), besides
Forte, Elena +8 more
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