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FIU Electronic Theses and Dissertations

Neurodegenerative diseases

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Full-Text Articles in Biochemistry, Biophysics, and Structural Biology

Trinucleotide Repeat Instability Modulated By Dna Repair Enzymes And Cofactors, Yaou Ren May 2018

Trinucleotide Repeat Instability Modulated By Dna Repair Enzymes And Cofactors, Yaou Ren

FIU Electronic Theses and Dissertations

Trinucleotide repeat (TNR) instability including repeat expansions and repeat deletions is the cause of more than 40 inherited incurable neurodegenerative diseases and cancer. TNR instability is associated with DNA damage and base excision repair (BER). In this dissertation research, we explored the mechanisms of BER-mediated TNR instability via biochemical analysis of the BER protein activities, DNA structures, protein-protein interaction, and protein-DNA interaction by reconstructing BER in vitro using synthesized oligonucleotide TNR substrates and purified human proteins. First, we evaluated a germline DNA polymerase β (pol β) polymorphic variant, pol βR137Q, in leading TNR instability-mediated cancers or neurodegenerative diseases. We find ...


Development Of A Maldi-Tof-Ms Method For The Analysis Of Cyanobacterial Neurotoxin Β-N-Methylamino-L-Alanine (Bmaa) In Search Of Bmaa Incorporation In Biological Samples, Laura M. Conklin Nov 2015

Development Of A Maldi-Tof-Ms Method For The Analysis Of Cyanobacterial Neurotoxin Β-N-Methylamino-L-Alanine (Bmaa) In Search Of Bmaa Incorporation In Biological Samples, Laura M. Conklin

FIU Electronic Theses and Dissertations

Beta-N-methylamino-L-alanine (BMAA) is a non-protein amino acid produced by many cyanobacteria, and thought to induce neurotoxic effects through excitotoxicity, contributing to neurodegenerative diseases such as Amyotrophic Lateral Sclerosis/Parkinsonism-dementia complex (ALS-PDC) and Alzheimer’s. The ubiquitous nature of cyanobacteria, and evidence of biomagnification through our food web, creates a dire need for the development of an analytical platform that will provide accurate identification and quantification of BMAA amounts in our ecosystem and potential food supply. The present study evaluated the ability of a MALDI-ToF-MS method to detect and quantify BMAA in a variety of biological matrices. Through validation ...