Browsing by Author "Safieh-Garabedian, Bared"
Now showing items 1-6 of 6
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Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria
( 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 ... -
Cerebrospinal fluid α-synuclein species in cognitive and movements disorders
( Multidisciplinary Digital Publishing Institute (MDPI) , 2021 , Article)Total CSF α-synuclein (t-α-syn), phosphorylated α-syn (pS129-α-syn) and α-syn oligomers (o-α-syn) have been studied as candidate biomarkers for synucleinopathies, with suboptimal specificity and sensitivity in the ... -
Cerebrospinal α-Synuclein Oligomers Reflect Disease Motor Severity in DeNoPa Longitudinal Cohort
( Wiley , 2021 , Article)Background: Tangible efforts have been made to identify biomarkers for Parkinson's disease (PD) diagnosis and progression, with α-synuclein (α-syn) related biomarkers being at the forefront. Objectives: The objectives of ... -
Divergent Biochemical Properties and Disparate Impact of Arrhythmogenic Calmodulin Mutations on Zebrafish Cardiac Function
( John Wiley & Sons , 2024 , Article)Calmodulin (CaM) is a ubiquitous, small cytosolic calcium (Ca2+)-binding sensor that plays a vital role in many cellular processes by binding and regulating the activity of over 300 protein targets. In cardiac muscle, CaM ... -
Oligomeric and phosphorylated alpha-synuclein as potential CSF biomarkers for Parkinson’s disease
( BioMed Central , 2016 , Article)Background Despite decades of intensive research, to date, there is no accepted diagnosis for Parkinson’s disease (PD) based on biochemical analysis of blood or CSF. However, neurodegeneration in the brains of PD patients ... -
Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype
( 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 ...
