Browsing Biomedical Sciences by Author "Safieh-Garabedian, Bared"
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Arrhythmogenic calmodulin E105A mutation alters cardiac RyR2 regulation leading to cardiac dysfunction in zebrafish
Da'as, Sahar I; Thanassoulas, Angelos; Calver, Brian L; Beck, Konrad; Salem, Rola; Saleh, Alaaeldin; Kontogianni, Iris; Al-Maraghi, Ali; Nasrallah, Gheyath K; Safieh-Garabedian, Bared; Toft, Egon; Nounesis, George; Lai, F Anthony; Nomikos, Michail... more authors ... less authors ( Wiley , 2019 , Article)Calmodulin (CaM) is a universal calcium (Ca )-binding messenger that regulates many vital cellular events. In cardiac muscle, CaM associates with ryanodine receptor 2 (RyR2) and regulates excitation-contraction coupling. ... -
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 ...