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A Clinically Relevant Variant of the Human Hydrogen Sulfide-Synthesizing Enzyme Cystathionine β-Synthase: Increased CO Reactivity as a Novel Molecular Mechanism of Pathogenicity?
The human disease classical homocystinuria results from mutations in the gene encoding the pyridoxal 5′-phosphate- (PLP-) dependent cystathionine β-synthase (CBS), a key enzyme in the transsulfuration pathway that controls homocysteine levels, and is a major source of the signaling molecule hydrogen...
Autores principales: | Vicente, João B., Colaço, Henrique G., Malagrinò, Francesca, Santo, Paulo E., Gutierres, André, Bandeiras, Tiago M., Leandro, Paula, Brito, José A., Giuffrè, Alessandro |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5381205/ https://www.ncbi.nlm.nih.gov/pubmed/28421128 http://dx.doi.org/10.1155/2017/8940321 |
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