Browsing Biomedical Research Center by Author "Thanassoulas, Angelos"
Now showing items 1-3 of 3
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Arrhythmia-Associated Calmodulin E105A Mutation Alters the Binding Affinity of CaM to a Ryanodine Receptor 2 CaM-Binding Pocket
Thanassoulas, Angelos; Theodoridou, Maria; Barrak, Laila; Riguene, Emna; Alyaarabi, Tamader; Elrayess, Mohamed A.; Lai, F. Anthony; Nomikos, Michail... more authors ... less authors ( MDPI , 2023 , Article)Calmodulin (CaM) is a small, multifunctional calcium (Ca2+)-binding sensor that binds and regulates the open probability of cardiac ryanodine receptor 2 (RyR2) at both low and high cytosolic Ca2+ concentrations. Recent ... -
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 ...