تصفح Biomedical Sciences حسب المؤلف "Thanassoulas, Angelos"
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Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria
Al-Sadeq, Duaa W.; Conter, Carolina; Thanassoulas, Angelos; Al-Dewik, Nader; Safieh-Garabedian, Bared; Martínez-Cruz, Luis Alfonso; Nasrallah, Gheyath K.; Astegno, Alessandra; Nomikos, Michail... more authors ... less authors ( 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 ... -
Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype
Al-Sadeq, Duaa W.; Thanassoulas, Angelos; Islam, Zeyaul; Kolatkar, Prasanna; Al-Dewik, Nader; Safieh-Garabedian, Bared; Nasrallah, Gheyath K.; Nomikos, Michail... more authors ... less authors ( Elsevier , 2022 , Article)The prevalence of homocystinuria in Qatar is 1:1800, mainly due to a founder missense mutation p.R336C. • The cystathionine beta-synthase (CBS) R336C mutant was bacterially expressed, purified and its molecular properties ...