Browsing Biomedical Research Center Research by Publisher "Portland Press Ltd"
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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 ... -
Hypertrophic cardiomyopathy-linked variants of cardiac myosin-binding protein C3 display altered molecular properties and actin interaction
( Portland Press Ltd , 2018 , Article)The most common inherited cardiac disorder, hypertrophic cardiomyopathy (HCM), is characterized by thickening of heart muscle, for which genetic mutations in cardiac myosin-binding protein C3 (c-MYBPC3) gene, is the leading ...