Browsing by Subject "cystathionine β-synthase (CBS)"
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Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria
( Portland Press Ltd , 2024 , Article)Homocystinuria is a rare disease caused by mutations in the CBS gene that results in a deficiency of cystathionine β-synthase (CBS). CBS is an essential pyridoxal 50-phosphate (PLP)-dependent enzyme in the transsulfuration ... -
STRUCTURAL AND FUNCTIONAL APPROACHES TOWARD ACTIVITY RESTORATION OF NOVEL CYSTATHIONINE BETA-SYNTHASE MUTATIONS
(2024 , Dissertation)Homocystinuria, a rare disorder stemming from mutations in the CBS gene, results in cystathionine β-synthase (CBS) deficiency. CBS is a pivotal enzyme whose activity is enhanced by the allosteric regulator S-adenosylmethionine ...