تصفح Biomedical Sciences حسب المؤلف "Nomikos, Michail"
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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 ... -
Functional characterization of human myosin-binding protein C3 variants associated with hypertrophic cardiomyopathy reveals exon-specific cardiac phenotypes in zebrafish model
Da'as, Sahar I.; Yalcin, Huseyin C.; Nasrallah, Gheyath K.; Mohamed, Iman A.; Nomikos, Michail; Yacoub, Magdi H.; Fakhro, Khalid A.... more authors ... less authors ( Wiley , 2020 , Article)© 2020 Wiley Periodicals, Inc. Myosin-binding protein C 3 (MYBPC3) variants are the most common cause of hypertrophic cardiomyopathy (HCM). HCM is a complex cardiac disorder due to its significant genetic and clinical ... -
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 ... -
Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model
Da’as, Sahar Isa; Hasan, Waseem; Salem, Rola; Younes, Nadine; Abdelrahman, Doua; Mohamed, Iman A.; Aldaalis, Arwa; Temanni, Ramzi; Mathew, Lisa Sara; Lorenz, Stephan; Yacoub, Magdi; Nomikos, Michail; Nasrallah, Gheyath K.; Fakhro, Khalid A.... more authors ... less authors ( MDPI , 2022 , Article)Variants in cardiac myosin-binding protein C (cMyBP-C) are the leading cause of inherited hypertrophic cardiomyopathy (HCM), demonstrating the key role that cMyBP-C plays in the heart’s contractile machinery. To investigate ...