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dc.contributor.advisorZinsmaier, Konraden
dc.contributor.authorLane, Alyssa Caroline
dc.creatorLane, Alyssa Carolineen
dc.date.accessioned2017-07-28T20:48:21Z
dc.date.available2017-07-28T20:48:21Z
dc.date.issued2017
dc.identifier.urihttp://hdl.handle.net/10150/625031
dc.description.abstractThis thesis serves as a review of the current literature and knowledge surrounding autosomal dominant Adult-Onset Neuronal Ceroid Lipofuscinosis, its underlying mutations, and disease pathophysiology. ANCL has been extensively researched in the past two decades and the major breakthroughs regarding this neurodegenerative disease are highlighted in the following pages. The mutations L115R and L116Δ in the DNAJC5 gene encoding cysteine-string protein alpha have been identified as the underlying source of ANCL. Impaired functioning of CSPα somehow leads to neurodegeneration, however its pathogenic pathways remain unclear. Recognizing the mechanisms by which mutant CSPα may lead to disease-onset is the key to understanding ANCL and, therefore, the focus of this literature review. First, a general introduction to various physiological pathways essential for understanding ANCL is provided. This sets the stage for part II, in which the current literature on NCL is consolidated, allowing the pieces of the ANCL puzzle to fall together. This synopsis is given as persuasion for an overarching process of ANCL disease pathology involving many complex mechanistic pathways combined.
dc.language.isoen_USen
dc.publisherThe University of Arizona.en
dc.rightsCopyright © is held by the author. Digital access to this material is made possible by the University Libraries, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author.en
dc.titleThe Pathophysiology of Autosomal Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis and the Role of Cysteine-String Protein Alphaen_US
dc.typetexten
dc.typeElectronic Thesisen
thesis.degree.grantorUniversity of Arizonaen
thesis.degree.levelbachelorsen
thesis.degree.disciplineHonors Collegeen
thesis.degree.disciplinePhysiologyen
thesis.degree.nameB.S.H.S.en
refterms.dateFOA2018-06-23T22:12:49Z
html.description.abstractThis thesis serves as a review of the current literature and knowledge surrounding autosomal dominant Adult-Onset Neuronal Ceroid Lipofuscinosis, its underlying mutations, and disease pathophysiology. ANCL has been extensively researched in the past two decades and the major breakthroughs regarding this neurodegenerative disease are highlighted in the following pages. The mutations L115R and L116Δ in the DNAJC5 gene encoding cysteine-string protein alpha have been identified as the underlying source of ANCL. Impaired functioning of CSPα somehow leads to neurodegeneration, however its pathogenic pathways remain unclear. Recognizing the mechanisms by which mutant CSPα may lead to disease-onset is the key to understanding ANCL and, therefore, the focus of this literature review. First, a general introduction to various physiological pathways essential for understanding ANCL is provided. This sets the stage for part II, in which the current literature on NCL is consolidated, allowing the pieces of the ANCL puzzle to fall together. This synopsis is given as persuasion for an overarching process of ANCL disease pathology involving many complex mechanistic pathways combined.


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