Publications

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Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model
Bublil EM, Majtan T, Park I, Carrillo RS, Hůlková H, Krijt J, Kožich V, Kraus JP. Homocystinuria, which typically results from cystathionine β-synthase (CBS) deficiency, is the most common defect of sulfur amino acid metabolism. CBS condenses homocysteine and serine to cystathionine that is then converted to cysteine. Individuals with homocystinuria have markedly elevated plasma levels of homocysteine and methionine and reduced concentrations of cystathionine and cysteine. » Read More