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Full-Text Articles in Nervous System Diseases

Qki-Mediated Cholesterol Biosynthesis In Eye Lens And Myelin Of The Central Nervous System, Seula Shin, Seula Shin Dec 2020

Qki-Mediated Cholesterol Biosynthesis In Eye Lens And Myelin Of The Central Nervous System, Seula Shin, Seula Shin

Dissertations & Theses (Open Access)

Cells obtain cholesterol in two ways, de novo biosynthesis and uptake from circulation. While most tissues utilize both sources, eye lens and brain depend extensively on cholesterol biosynthesis due to the limited supply from circulation. Lens cell membrane consists of highest portion of cholesterol. Brain is the most cholesterol-rich organ, which accounts for 23% of total cholesterol. Genetic mutations of cholesterol biosynthesis enzymes in humans and animal models present cataracts and hypomyelinating disorders linked to neurological impairment. Yet, it remains unclear how gene expression of cholesterol biosynthesis is regulated in lens and brain. Therefore, studying cholesterol biosynthesis in both tissues …


Qki-Mediated Cholesterol Biosynthesis In Eye Lens And Myelin Of The Central Nervous System, Seula Shin, Seula Shin Dec 2020

Qki-Mediated Cholesterol Biosynthesis In Eye Lens And Myelin Of The Central Nervous System, Seula Shin, Seula Shin

Dissertations & Theses (Open Access)

Cells obtain cholesterol in two ways, de novo biosynthesis and uptake from circulation. While most tissues utilize both sources, eye lens and brain depend extensively on cholesterol biosynthesis due to the limited supply from circulation. Lens cell membrane consists of highest portion of cholesterol. Brain is the most cholesterol-rich organ, which accounts for 23% of total cholesterol. Genetic mutations of cholesterol biosynthesis enzymes in humans and animal models present cataracts and hypomyelinating disorders linked to neurological impairment. Yet, it remains unclear how gene expression of cholesterol biosynthesis is regulated in lens and brain. Therefore, studying cholesterol biosynthesis in both tissues …


Characterization Of Novel Animal Models For Parkinson’S Disease, Mohannad Almikhlafi May 2020

Characterization Of Novel Animal Models For Parkinson’S Disease, Mohannad Almikhlafi

Theses & Dissertations

Parkinson’s disease (PD) is neurodegenerative disorder characterized by dopaminergic neuronal loss in the substantia nigra (SN) pars compacta. Mutations in DJ-1, PINK1 and Parkin lead to PD in humans; however, in mice, mutations or knockout of these genes do not lead to disease. Development of small animal models mimicking PD pathogenesis would enable better understanding of the disease. Here, we examined two approaches using laboratory rats. First, DJ-1 knockout rats have been reported to develop movement disorders and loss of neurons similar to human PD. Comprehensive analysis of mitochondrial proteomic alteration in isolated synaptic mitochondria from DJ-1 knockout rats using …


Functional Analysis Of A Critical Glycine (Glycine 12) In Beta-Type Connexins Of Human Skin, Rasheed Bailey May 2020

Functional Analysis Of A Critical Glycine (Glycine 12) In Beta-Type Connexins Of Human Skin, Rasheed Bailey

Biology Theses

At least five beta-type connexins are expressed in various layers of the skin (Cx26, Cx30, Cx30.3, Cx31, and Cx32) and all include a glycine residue at position 12. Glycine12 (G12) is located about halfway through the cytoplasmic amino terminus and has been the focus of several studies related to connexin diseases and gap junction channel structure. The importance of this residue is evident in the severity and diversity of diseases associated with amino acid substitutions at G12 including hereditary forms of skin disease, deafness and neuropathy. This study uses bioinformatic analysis in combination with mutational analysis and electrophysiology to better …


Modeling Genetic Risk Factor Of Alzheimer's Disease "Sorl1" Using Patient Specific Pluripotent Stem Cells, Kamonchanok Kongsri Jan 2020

Modeling Genetic Risk Factor Of Alzheimer's Disease "Sorl1" Using Patient Specific Pluripotent Stem Cells, Kamonchanok Kongsri

Chulalongkorn University Theses and Dissertations (Chula ETD)

Alzheimer’s disease is the most common neurodegenerative; cause of dementia and trends to increase in elder society. There is still not cure. A new strategy development for treatment is needed. SORL1 is a major genetic risk factor associated with sporadic AD. It correlates with degrading amyloid beta (Aβ) by sorting to lysosome. SORL1 overexpression has been reported that reduce Aβ production. However, the molecular mechanism that regulate in neurons is still unclear. The purpose of this study is to generate an effective drug discovery platform for identifying molecules that can modulate SORL1 level in human neurons by using induced pluripotent …