تصفح Biomedical Research Center Research حسب المؤلف "Nomikos, Michail"
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Advancing male age differentially alters levels and localization patterns of PLCzeta in sperm and testes from different mouse strains
Kashir, Junaid; Mistry, Bhavesh; Gumssani, Maha; Rajab, Muhammad; Abu-Dawas, Reema; Almohanna, Falah; Nomikos, Michail; Jones, Celine; Abu-Dawud, Raed; Al-Yacoub, Nadya; Coward, Kevin; Lai, F.; Assiri, Abdullah... more authors ... less authors ( Medknow Publications , 2021 , Article)Sperm-specific phospholipase C zeta (PLC) initiates intracellular calcium (Ca2+) transients which drive a series of concurrent events collectively termed oocyte activation. Numerous investigations have linked abrogation ... -
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 ... -
The Relationship between Changes in MYBPC3 Single-Nucleotide Polymorphism-Associated Metabolites and Elite Athletes’ Adaptive Cardiac Function
Riguene, Emna; Theodoridou, Maria; Barrak, Laila; Elrayess, Mohamed A.; Nomikos, Michail ( MDPI , 2023 , Article Review)Athletic performance is a multifactorial trait influenced by a complex interaction of environmental and genetic factors. Over the last decades, understanding and improving elite athletes’ endurance and performance has ... -
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 ...