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- Endoplasmic reticulum (2)
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Articles 1 - 5 of 5
Full-Text Articles in Medical Genetics
The Role Of Ceramides As Biomarkers And Therapeutic Targets For Cardiometabolic Disease And Its Intersection With Cellular Aging, Youssef Moustafa Shalaby
The Role Of Ceramides As Biomarkers And Therapeutic Targets For Cardiometabolic Disease And Its Intersection With Cellular Aging, Youssef Moustafa Shalaby
Thesis/ Dissertation Defenses
Ceramides (Cer), a subclass of sphingolipids with potent bioactive properties, have gained recognition as key players in the pathogenesis of cardiometabolic diseases (CMD). They modulate critical cellular functions such as apoptosis, inflammation, insulin signaling, and oxidative stress. This dissertation explores the dual role of Cer as both early diagnostic markers and therapeutic targets, bridging clinical insights with mechanistic understanding through a combination of human and experimental studies.
A highly sensitive liquid chromatography–tandem mass spectrometry (LC-MS/MS) method was developed and validated to quantify intracellular levels of specific Cer species, including CerC16:0, CerC18:0, CerC22:0, CerC24:0, and CerC24:1. This method was translated into …
The Cellular Trafficking And Targeting Of Angiotensin-Converting-Enzyme-2 (Ace2) And Neutral-Amino-Acid-Transporter (B0at1) Variants: Implications For The Pathogenesis Of Associated Diseases And Therapy, Nesreen Fayyad Al-Khofash
The Cellular Trafficking And Targeting Of Angiotensin-Converting-Enzyme-2 (Ace2) And Neutral-Amino-Acid-Transporter (B0at1) Variants: Implications For The Pathogenesis Of Associated Diseases And Therapy, Nesreen Fayyad Al-Khofash
Thesis/ Dissertation Defenses
Angiotensin-converting enzyme 2 (ACE2) and the amino acid transporter B0AT1 are essential for blood pressure regulation, amino acid absorption, and viral entry. Their interaction is crucial in both normal physiology and disease, including hypertension, Hartnup disease, and SARS-CoV-2 infection. However, the effects of genetic variants on their biogenesis, trafficking, and function remain poorly understood. This PhD thesis investigates how specific ACE2 and B0AT1 variants influence their subcellular localization and interactions. A multidisciplinary approach, incorporating site-directed mutagenesis, confocal microscopy, Western blotting, and in silico modelling, was used to examine 39 ACE2 variants and 18 B0AT1 mutations. Results showed that wild-type ACE2 …
Elucidating The Pathogenic Mechanisms Of Disease-Causing Variants In The Low-Density Lipoprotein Receptor (Ldlr) And The Very-Low-Density Lipoprotein Receptor (Vldlr), Aseel Adnan Jawabri
Elucidating The Pathogenic Mechanisms Of Disease-Causing Variants In The Low-Density Lipoprotein Receptor (Ldlr) And The Very-Low-Density Lipoprotein Receptor (Vldlr), Aseel Adnan Jawabri
Thesis/ Dissertation Defenses
The Low-Density Lipoprotein Receptor (LDLR) and the Very-Low-Density Lipoprotein Receptor (VLDLR) are major members of the LDLR family of proteins, and they have been shown to be responsible for Familial hypercholesterolemia (FH) and Cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1 (CAMRQ1), respectively. FH is an autosomal dominant disorder characterized by increased LDL-cholesterol levels mainly caused by mutations in LDLR. Clinically, FH is characterized by increased levels of LDL-C, tendon xanthomas, corneal arcus, and premature coronary artery diseases (CAD) such as atherosclerosis, if left untreated. CAMRQ-related disorders are a group of rare, heterogeneous, autosomal recessive conditions characterized by cerebellar …
Genomics Insights Into Anti-Platelets Therapy: Unraveling Of Variants And The Implementation Of Clopidogrel-Guided Therapy In The United Arab Emirates, Lubna Qasem Khasawneh
Genomics Insights Into Anti-Platelets Therapy: Unraveling Of Variants And The Implementation Of Clopidogrel-Guided Therapy In The United Arab Emirates, Lubna Qasem Khasawneh
Thesis/ Dissertation Defenses
Anti-platelet therapy is a cornerstone in the management of cardiovascular diseases such as acute coronary syndrome (ACS) and stroke. These medications are essential for reducing the risk of thrombotic events by preventing platelet aggregation. However, variations in cardiovascular pharmacogenes can significantly impact the metabolism, efficacy, and safety of anti-platelet therapies, making personalized medicine increasingly important for optimizing treatment outcomes. Pharmacogenomic testing has emerged as a crucial tool in tailoring anti-platelet therapy, particularly for patients with subtherapeutic responses due to genetic factors. While extensive research has been conducted globally to identify and study the effect of the pharmacogenomic variants that influence …
Delineating The Cellular Mechanisms Of Endoplasmic Reticulum-Retained Endoglin Mutants Causing Hereditary Hemorrhagic Telangiectasia Type 1, Nesrin Mohammed Gariballa
Delineating The Cellular Mechanisms Of Endoplasmic Reticulum-Retained Endoglin Mutants Causing Hereditary Hemorrhagic Telangiectasia Type 1, Nesrin Mohammed Gariballa
Dissertations
Endoglin, also known as cluster of differentiation 105 (CD105), is an auxiliary receptor in the TGFβ signaling pathway. It is predominantly expressed in endothelial cells as a component of the heterotetrameric receptor dimers comprising type I, type II receptors and the binding ligands. Mutations in ENG, the gene encoding endoglin, have been associated with Hereditary Hemorrhagic Telangiectasia type 1 (HHT1), a rare autosomal dominant inherited disorder affecting about 1 in 5000-8000 individuals, which is generally characterized by vascular malformations. Secretory and many endomembrane proteins synthesized in the Endoplasmic Reticulum (ER) are subjected to a highly stringent protein folding and assembly …