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Full-Text Articles in Biology

Notch Regulates Vascular Collagen Iv Basement Membrane Through Modulation Of Lysyl Hydroxylase 3 Trafficking, Stephen J.B. Gross Jan 2021

Notch Regulates Vascular Collagen Iv Basement Membrane Through Modulation Of Lysyl Hydroxylase 3 Trafficking, Stephen J.B. Gross

Electronic Theses and Dissertations

Collagen type IV (Col IV) is a basement membrane protein associated with early blood vessel morphogenesis and is essential for blood vessel stability. Defects in vascular Col IV deposition are the basis of heritable disorders, such as small vessel disease, marked by cerebral hemorrhage and drastically shorten lifespan. To date, little is known about how endothelial cells regulate the intracellular transport and selective secretion of Col IV in response to angiogenic cues, leaving a void in our understanding of this process. Our aim was to identify trafficking pathways that regulate Col IV deposition during angiogenic blood vessel development. We have …


Understanding Patterns And Functional Impacts Of An Invasive Tree And Its Biological Control In A Riparian System, Annie L. Henry Jan 2021

Understanding Patterns And Functional Impacts Of An Invasive Tree And Its Biological Control In A Riparian System, Annie L. Henry

Electronic Theses and Dissertations

Invasive species have become an inextricable part of the landscape, particularly in riparian plant communities, and removal is often a key component of restoration programs. Biological control (biocontrol) is a method of removal that is often both efficient and effective. However, the impact of biocontrol on target species and indirect effects from invasive species removal can be hard to predict. While monitoring the impact of invasive species removal usually involves some species-based assessment such as changes in diversity, historically dominant species or native species, these strategies do not typically provide insight into the mechanisms underlying plant community response to removal. …


Development Of Endoplasmic Reticulum Targeted Probes And Red Fluorescent Probes For Detecting Zinc, Drew Maslar Jan 2021

Development Of Endoplasmic Reticulum Targeted Probes And Red Fluorescent Probes For Detecting Zinc, Drew Maslar

Electronic Theses and Dissertations

Zinc (Zn2+) is the second most abundant transition metal in the body and is important in various biological functions. Fluorescent sensors based on circularly permuted fluorescent proteins (cpFPs) have been previously made to detect labile, or unbound, Zn2+ within the cytoplasm of cells. These sensors have proven invaluable for studying Zn2+, however, these sensors are limited to their use in the cytoplasm and by the fact that only green cpFP have been utilized to create fluorescent Zn2+ sensors. In this thesis, we use a combination of peptide targeting sequences, site-directed mutagenesis, and rational design …


Optimized Microbial Recombinant Production Of Hiv-1 Anti-Envelope Antibody Fragments With Applications To Single Particle Tracking Of Virus Assembly, Merissa Michelle Bruns Jan 2021

Optimized Microbial Recombinant Production Of Hiv-1 Anti-Envelope Antibody Fragments With Applications To Single Particle Tracking Of Virus Assembly, Merissa Michelle Bruns

Electronic Theses and Dissertations

In my findings, I have established a set series of protocols to recombinantly produce, purify and apply various fluorescent probes in vitro for the fluorescent labeling and study of the human immunodeficiency virus type 1 (HIV-1) envelope (Env) protein during HIV viral assembly. There remains insufficient knowledge about the molecular dynamics and interactions of HIV-1 Env protein with its counterpart, Gag, on the inner host cell surface during assembly of a mature virus particle. There also remains an insufficient amount of data for the understanding and clarification of the mechanism of action of a known host cell HIV-1 restriction factor, …


Identification Of Loci Influencing Teosinte Crossing Barrier 1 (Tcb1) Efficacy In Maize By Quantitative Trait Loci (Qtl) Mapping And Genome-Wide Association Study (Gwas), Namrata Maharjan Jan 2021

Identification Of Loci Influencing Teosinte Crossing Barrier 1 (Tcb1) Efficacy In Maize By Quantitative Trait Loci (Qtl) Mapping And Genome-Wide Association Study (Gwas), Namrata Maharjan

Electronic Theses and Dissertations

Pollen cross-contamination has been a major problem for maize breeders. Various mechanical methods applied to avoid the contaminations are ineffective. The genetic factors related to maize fertilization can be used to develop an effective method to prevent pollen contamination. Pollen rejection ability controlled by Teosinte crossing barrier 1 (Tcb1) is such a genetic system. Silks possessing dominant Tcb1-s reject pollen possessing the recessive allele (tcb1). Successful fertilization occurs when Tcb1-s pollen falls upon tcb1 silks. The efficacy of dominant Tcb1-s was, however, reduced when repeatedly backcross with maize inbred lines, which suggests that there are modifiers to Tcb1-s. To find …


Pollinator Ecology In Agroecosystems Of Eastern South Dakota, Isabela Beatriz Vilella-Arnizaut Jan 2021

Pollinator Ecology In Agroecosystems Of Eastern South Dakota, Isabela Beatriz Vilella-Arnizaut

Electronic Theses and Dissertations

Community structure contributes to ecosystem persistence and stability. To understand the mechanisms underlying pollination and community stability of natural areas in a human influenced landscape, a better understanding of the interaction patterns between plants and pollinators in disturbed landscapes is needed. Furthermore, understanding the potential conservation value in green spaces such as botanical gardens could assist in preserving and bolstering plant-pollinator interactions. Our study takes place in the Northern Great Plains which still retains extensive tracts of remnant temperate grassland habitat within a matrix of varying land-uses. First, we used a network-based approach to quantify how temperate grassland attributes and …


The Effects Of Saline Soil On Microbiome And The Isolation Of Root-Associated Microbes To Relieve Salinity Stress, Duncan Jakubowski Jan 2021

The Effects Of Saline Soil On Microbiome And The Isolation Of Root-Associated Microbes To Relieve Salinity Stress, Duncan Jakubowski

Electronic Theses and Dissertations

Increasing levels of salinity in once-viable lands for crop production is a serious and growing problem in the Northern Great Plains. The objectives of this study were to determine the effects of saline soil on the microbial composition of plant roots and bulk soil, to measure metabolic changes in plant roots from saline soil, to determine the viability of root-associated microbes as inoculants to increase stress tolerance in plants, as well as determine the impact of saline soil on nitrogen cycling genes linked to greenhouse gas production. This study hypothesizes that high soil salinity levels have a significant impact on …


Electrical Sensing In Non-Excitable Cells To Promote Galvanotaxis And Tissue Survival, Anyesha Sarkar Jan 2021

Electrical Sensing In Non-Excitable Cells To Promote Galvanotaxis And Tissue Survival, Anyesha Sarkar

Electronic Theses and Dissertations

Weak DC fields have been shown to induce polarity, cell migration and cell proliferation in 2D cultures in vitro. To understand the mechanism by which non-excitable cells sense such weak EFs, we have investigated the mechanism of cathode-directed water flow (electro-osmosis) in the boundary layer of cells by reducing it with neutral, viscous polymers. Our results indicate that low molecular weight polymers decrease cathodal migration and promote anodal migration in a concentration dependent manner. High molecular weight polymers do not affect directionality and can be explained using porosity and hydraulic permeability between the polymers. These results provide the first evidence …


Microbial Community Responses To Salinification: Applications In Climate Change And Extreme Environments, Eric Weingarten Jan 2021

Microbial Community Responses To Salinification: Applications In Climate Change And Extreme Environments, Eric Weingarten

Electronic Theses and Dissertations

Sediment microbial community responses to elevated salinity are important in predicting the effects of sea level rise as well as in understanding those communities that can thrive in extreme environments. In this dissertation, I use natural and field experiments to investigate how salinity influences microbiome structure in coastal wetlands. Through the use of amplicon sequencing, I demonstrate that there are compositional differences between the microbiota of four wetland salinity classes: limnetic, oligohaline, mesohaline, and polyhaline. These results were reciprocated in a microcosm study exposing freshwater sediment to meso- and polyhaline conditions, showing that communities shifted proportionally to the magnitude of …


Bio-Inspired Materials For Electrochemical Sensors, Matthew Joseph Hummel Jan 2021

Bio-Inspired Materials For Electrochemical Sensors, Matthew Joseph Hummel

Electronic Theses and Dissertations

Electrochemical biosensors are a rapidly growing research area that has greatly improved its specificity, accuracy, and precision in the detection of biomolecules in contemporary literature and industry alike. Typically, these systems exist in a three-electrode conformation with a working electrode functioning as the anode, a counter electrode functioning as the cathode, and a reference electrode allowing for the control of potential in the system. The method by which these sensors work is through the sharing of electrons via redox reactions with the target molecule and the working electrode or modifications on its surface. By exploiting the function of biomaterials that …


How Do Prey Capture And Simulated Fire Affect Growth And Nutrient Limitation In A Carnivorous Pitcher Plant, Sarracenia Alata?, Jalen Christopher Holloway Jan 2021

How Do Prey Capture And Simulated Fire Affect Growth And Nutrient Limitation In A Carnivorous Pitcher Plant, Sarracenia Alata?, Jalen Christopher Holloway

Electronic Theses and Dissertations

Carnivorous plants are defined as being able to benefit from the nutrients of prey in the environment, and have at least one trait that either retrieves, ingests, or lures a prey to its traps. The association of carnivorous plants with fire-prone habitats was initially described as a paradox, considering that carnivorous plants are often associated with nutrient-poor soils and fires can increase soil nutrient availability. This apparent paradox assumes, however, that the nutrients that increase in availability following fire are those also provided by prey, which might not be true. In habitats with nitrogen-poor soils, fire has been shown to …


Identifying The Effects Naturally Forming Bacterial Communities Have On The Efficiency Of Passive Remediation Systems Built To Treat Abandoned Coal Mine Drainage, Michelle M. Valkanas Dec 2020

Identifying The Effects Naturally Forming Bacterial Communities Have On The Efficiency Of Passive Remediation Systems Built To Treat Abandoned Coal Mine Drainage, Michelle M. Valkanas

Electronic Theses and Dissertations

Abandoned mine drainage (AMD) has resulted in worldwide devastation. Passive remediation systems (PRS) are a cost-effective option to treat AMD. While the geochemistry (abiotic) of these systems is well understood, little work has been done to characterize the microbial communities (biotic) that naturally form within these systems. The goal of this dissertation was to identify the effects that bacterial communities have on the efficiency of PRSs. Four passive remediation sites built to treat coal mine drainage were studied: two that treat acidic discharges (Boyce and Middle Branch) and two that treat circumneutral discharges (Wingfield Pines and Lowber). Survey studies suggested …


Early Life History Of Tarpon (Megalops Atlanticus) In South Carolina Estuaries: Assessment Of Juvenile Recruitment And Validity Of Aging And Back-Calculation Methods, Garrett M. Elmo Dec 2020

Early Life History Of Tarpon (Megalops Atlanticus) In South Carolina Estuaries: Assessment Of Juvenile Recruitment And Validity Of Aging And Back-Calculation Methods, Garrett M. Elmo

Electronic Theses and Dissertations

No abstract provided.


Residency, Diel Movement, And Tidal Patterns Of Large Juvenile Bull Sharks (Carcharhinus Leucas) In Winyah Bay, Sc, Jeremy Lee Arnt Dec 2020

Residency, Diel Movement, And Tidal Patterns Of Large Juvenile Bull Sharks (Carcharhinus Leucas) In Winyah Bay, Sc, Jeremy Lee Arnt

Electronic Theses and Dissertations

No abstract provided.


Undergraduate Students Use Moral Reasoning And Belief In Genetic Determinism In Response To A Crispr/Cas9 Socioscientific Issue., Katie M. Seiter Dec 2020

Undergraduate Students Use Moral Reasoning And Belief In Genetic Determinism In Response To A Crispr/Cas9 Socioscientific Issue., Katie M. Seiter

Electronic Theses and Dissertations

This dissertation explores how students reason about genetic engineering socioscientific issues (SSIs) related to a recently developed, powerful genome editing technology called CRISPR/Cas9. It is divided into three chapters. Chapter One describes an exploratory study that characterized students’ moral reasoning using a sociocultural theoretical framework. I used content analysis and logistic regression to investigate how academic and social factors influenced moral reasoning. Students generally opposed the use of CRISPR/Cas9 technology for non-medical enhancements, and the moral considerations used were influenced by genetics knowledge level and demographic variables such as gender and socio-economic status. Further investigation of moral perspectives for students …


On The Straight And Narrow: How Cultural Beliefs About Sex/Gender Manifest In College Biology Learning Environments., Katherine Ray Kng Dec 2020

On The Straight And Narrow: How Cultural Beliefs About Sex/Gender Manifest In College Biology Learning Environments., Katherine Ray Kng

Electronic Theses and Dissertations

This dissertation focused on the ways that social beliefs about sex/gender and sexuality manifest in biology classrooms. Especially for health science students, classes include topics like sex, sexuality, sexual behaviors, or sex determination that forms the foundation of their understanding of human forms and behaviors. If the information they receive does not include the LGBTQIA+ community, their education will fail to adequately prepare them for the reality of healthcare practice where they will be expected to treat all patients with dignity and respect. There are three chapters in this dissertation. In chapter one, I asked what beliefs about and conceptions …


Evaluating The Biological Effects And Safety Of Exposure To Low, Putatively Safe Concentrations Of The Common Pesticide Chlorpyrifos Using An Anuran Model, Sara Mcclelland Aug 2020

Evaluating The Biological Effects And Safety Of Exposure To Low, Putatively Safe Concentrations Of The Common Pesticide Chlorpyrifos Using An Anuran Model, Sara Mcclelland

Electronic Theses and Dissertations

In the US, over 1.1 billion pounds of pesticides are applied annually. Unfortunately, pesticides contaminate natural habitats affecting animal health. Chlorpyrifos (CPF) is an organophosphorous insecticide that contaminates surface waters. Few studies have assessed the impacts of CPF at low, ecologically realistic doses. I aimed to test the effects of low dose CPF exposures on biological parameters including body morphology, hormone levels, and brain development in Northern Leopard Frogs (Lithobates pipiens), a common vertebrate model. To determine if CPF exposure has direct impacts or indirectly impacts animals through the disruption of the food web, I examined CPF exposure …


Use Of Multibeam And Split-Beam Sonar To Observe Changes In Fish School Biomass In Relation To Dolphin Abundance, Reece Eleanor Aponte Aug 2020

Use Of Multibeam And Split-Beam Sonar To Observe Changes In Fish School Biomass In Relation To Dolphin Abundance, Reece Eleanor Aponte

Electronic Theses and Dissertations

No abstract provided.


Assessing The Impact Of Restored Wetlands On Bat Foraging Activity Over Nearby Farmland, Philip Allagas Aug 2020

Assessing The Impact Of Restored Wetlands On Bat Foraging Activity Over Nearby Farmland, Philip Allagas

Electronic Theses and Dissertations

Up to 87% of the world’s wetlands have been destroyed, considerably reducing ecosystem services these wetlands once provided. More recently, many wetlands are being restored in an attempt to regain their ecosystem service. This study seeks to determine the effects of restored wetlands on local bat habitat use. Bat activity was found to be significantly higher around the wetlands when compared to distant grassy fields; however, no significant difference was found among the restored wetlands and a remote cattle farm containing multiple water features. Geospatial models of bat distribution and bat foraging were produced using machine learning that showed higher …


Bdnf-Related Gene Expression Of Laser Capture Microdissected Glutamate Neurons From The Anterior Cingulate Cortex In Mouse Models Of Autism Spectrum Disorder, Misty Owens Aug 2020

Bdnf-Related Gene Expression Of Laser Capture Microdissected Glutamate Neurons From The Anterior Cingulate Cortex In Mouse Models Of Autism Spectrum Disorder, Misty Owens

Electronic Theses and Dissertations

Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting social behaviors. ASD affects 1 in 59 children with males affected more frequently. ASD is postulated to result from excitatory and inhibitory neurotransmission imbalances. Brain-derived neurotrophic factor (BDNF) signaling affects ASD by influencing synaptogenesis, plasticity, and survival. Studying early in-utero neuropathological changes within ASD requires the use of animal models. Expression of BDNF-associated genes were analyzed within laser capture microdissected pyramidal neurons from the anterior cingulate cortex of male and female BTBR and valproic acid mouse models. No expression differences were found in any gene comparing the three groups. Gender comparisons …


The Effects Of Elevation On Foraging Behavior Of Bats In Southern Appalachia, Victoria Long Aug 2020

The Effects Of Elevation On Foraging Behavior Of Bats In Southern Appalachia, Victoria Long

Electronic Theses and Dissertations

There are limited studies on bat activity in higher elevations in the Appalachian region. Levels of bat activity were compared in south central Appalachia at low (< 914.4 m) and high (> 1, 524 m) elevations in open, forest edge, and riparian habitats. Additionally, habitat suitability was modeled for a common species, big brown bat (Eptesicus fuscus). The study started May 27th 2019, and sites were monitored biweekly until October 2nd 2019. Six species and one genus were recorded during the study. Species from the Myotis genus were grouped together because of similar call characteristics. Results show that species were significantly more …


Testing The Potential Of Environmental Dna: Genetic Monitoring Of Estuarine And Coastal Bottlenose Dolphin (Tursiops Truncatus) Stocks In South Carolina, Kathryn Greiner-Ferris May 2020

Testing The Potential Of Environmental Dna: Genetic Monitoring Of Estuarine And Coastal Bottlenose Dolphin (Tursiops Truncatus) Stocks In South Carolina, Kathryn Greiner-Ferris

Electronic Theses and Dissertations

Environmental DNA (eDNA) analysis is a non-invasive monitoring technique that can detect and potentially monitor elusive marine mammals. To date, the majority of eDNA studies have been performed in freshwater environments, partially due to methodological challenges posed by higher salinities and increased dilution effects of large water masses in marine environments. The objective of this study was to design and optimize species-specific oligonucleotide PCR primers to accurately detect and quantify common bottlenose dolphin (Tursiops truncatus) eDNA collected from the marine environment and to evaluate potential trends between eDNA concentration and dolphin abundance and seasonality. Primer pairs were designed to target …


A Genomic Analysis Of Bobcat Populations In North America With A Comparison To The Canada Lynx: An Assessment Of Local Adaptation To Unique Ecoregions And Phylogeography, Jennifer C. Broderick May 2020

A Genomic Analysis Of Bobcat Populations In North America With A Comparison To The Canada Lynx: An Assessment Of Local Adaptation To Unique Ecoregions And Phylogeography, Jennifer C. Broderick

Electronic Theses and Dissertations

Bobcats (Lynx rufus) are an ecologically and genetically diverse species with a large contiguous range throughout North America. The species not only has a wide array of phenotypic variation compared to other mammals, but shows marked adaptability across ecozones with differing ecological influences. It is these various selective pressures in distinctive parts of the continent that have likely led to localized adaptations within the bobcat metapopulations. The species is also marked by its ability to maintain connectivity and populations in anthropogenically developed areas, an advantage it has over other felids, including its close relative the Canada lynx ( …


Pilot Study Exploring The Effect Of Targeted Cox-2 Inhibition In Macrophages Responding To Neuronal Injury; Promoting Enhanced Axonal Regeneration, Alyssa Brauckmann May 2020

Pilot Study Exploring The Effect Of Targeted Cox-2 Inhibition In Macrophages Responding To Neuronal Injury; Promoting Enhanced Axonal Regeneration, Alyssa Brauckmann

Electronic Theses and Dissertations

Celecoxib nanoemulsion (CXB-NE) has been developed as a macrophage targeted analgesics by Dr. Janjic and her team at Duquesne University, (Janjic et al, 2018; Liu et al, 2020; Saleem et al, 2019b; Vasudeva et al, 2014). The CXB-NE nanoemulsion carrying a Nonsteroidal Anti-inflammatory (NSAID) inhibitor of COX-2 activity result in a reduction in PGE2 expression in macrophages. Using CXB-NE in rats that have peripheral nerve injury constricting the sciatic nerve relieves hypersensitivity, a pain-like behavior. The treatment also decreases inflammation associated with this chronic constriction injury (Janjic et al, 2018; Saleem et al, 2019b; Stevens et al, 2019). In this …


Chronoecology Of A Cave-Dwelling Orb-Weaver Spider, Meta Ovalis (Araneae: Tetragnathidae), Rebecca Steele May 2020

Chronoecology Of A Cave-Dwelling Orb-Weaver Spider, Meta Ovalis (Araneae: Tetragnathidae), Rebecca Steele

Electronic Theses and Dissertations

Circadian clocks enable coordination of essential biological and metabolic processes in relation to the 24-hour light cycle. However, there are many habitats that are not subject to this light cycle, such as the deep sea, arctic regions, and cave systems. This study analyzes the circadian pattern of isolated populations of a subterranean spider, Meta ovalis from two Tennessee caves and five Indiana caves. Locomotor activity was recorded with TriKinetics LAM50 Locomotor Activity Monitor under a 12-hour light (L), 12-hour dark (D) (LD 12:12) cycle preceding total darkness (DD). Significant differences were found within and among populations found in Tennessee cave …


Glare Reduction By Dark Facial Markings And Bills In Birds, Clara Lebow May 2020

Glare Reduction By Dark Facial Markings And Bills In Birds, Clara Lebow

Electronic Theses and Dissertations

Avian facial plumage, bill coloration, and feather microstructure may serve one or more adaptive functions. Several researchers have proposed that dark eyestripes, bills, and facial masks aid in reducing glare, however, there have been relatively few tests of this hypothesis. Dark facial markings have been shown to have an adaptive glare-reduction function in recent field studies of a few species, but this hypothesis has never been tested in a broad multispecies analysis. It is likely that feather microstructure influences feather brightness and has an effect on the efficacy of glare reduction properties of feathers. I examined the link between dark …


Efficient Conditional Inactivation Of Rdh10 Reveals Important Role Of Retinoic Acid During Lung Branching Morphogenesis., Nhut Quang Huy Tran May 2020

Efficient Conditional Inactivation Of Rdh10 Reveals Important Role Of Retinoic Acid During Lung Branching Morphogenesis., Nhut Quang Huy Tran

Electronic Theses and Dissertations

Birth defects are complicated pathological processes. Many birth defects can be traced back to disrupted regulation of molecular signaling pathways during embryogenesis. One of the most important gene regulatory factors during embryo development is retinoic acid (RA). However, studying the specific roles of RA in each organ during embryogenesis in vivo is challenging. The Sandell laboratory has a conditional mutant mouse model that can potentially be used for studying the role of RA during embryogenesis by inducing stage-specific RA deficiency. This model allows retinol dehydrogenase 10 (Rdh10), a gene required for RA production, to be inactivated at a …


Aboveground-Belowground Interactions: Roles Of Soil Biotic And Abiotic Factors On Switchgrass's (Panicum Virgatum) Growth, Defense Against Herbivory And Cell Wall Chemistry., Binod Basyal May 2020

Aboveground-Belowground Interactions: Roles Of Soil Biotic And Abiotic Factors On Switchgrass's (Panicum Virgatum) Growth, Defense Against Herbivory And Cell Wall Chemistry., Binod Basyal

Electronic Theses and Dissertations

Plants constantly interact with their biotic and abiotic soil environments. Most terrestrial plants form beneficial associations with soil microbes such as arbuscular mycorrhizal (AM) fungi, which are widely known for their ability to transfer soil phosphorus and nitrogen to the host plants. They help plants tolerate drought stress and improve plant defense against herbivores such as plant-parasitic nematodes (PPNs). This dissertation investigates the role of AM fungi on switchgrass’s (Panicum virgatum) growth, cell wall chemistry, and defense against PPNs using a combination of growth chamber and field studies. Switchgrass is a native warm-season species which is gaining traction as candidate …


Tobacco Enhances Bacterial-Induced Periodontal Bone Loss In Mice., Mina Iskander May 2020

Tobacco Enhances Bacterial-Induced Periodontal Bone Loss In Mice., Mina Iskander

Electronic Theses and Dissertations

Background: Tobacco smoking is the leading environmental risk factor for periodontal diseases. Delineation of the mechanisms underlying tobacco-induced or exacerbated periodontitis is hampered by the lack of an appropriate and reliable animal model. Hypothesis: We hypothesized that Porphyromonas-gingivalis-infected, cigarette smoke-exposed mice would represent reproducible models of acute (ligature model) and chronic (oral gavage model) tobacco-enhanced periodontitis that reflect multiple aspects of the disease noted in human smokers. Methods: In a chronic oral gavage disease model, Balb/c mice (6-8 weeks, 4 groups of n = 6 per group) were exposed to smoke produced by a Teague-10 smoking machine from 1R6F research …


Cellular And Organismal Ramifications Of De Novo Purine Synthesis Dysregulation, Randall Craig Mazzarino Jan 2020

Cellular And Organismal Ramifications Of De Novo Purine Synthesis Dysregulation, Randall Craig Mazzarino

Electronic Theses and Dissertations

Purines are a class of nitrogenous bases and are essential small molecules to life. Purines are used within the cell as genetic information carriers, energy currency, signaling molecules, and cofactors for multiple processes. They are formed through de novo and salvage pathways found in cells across the phylogenetic tree. The substrates of enzymes within de novo purine synthesis are known to influence other processes within the cell, such as energy homeostasis. In humans, de novo purine synthesis disorders are rare, with around 100 people identified. These patients exhibit a range of phenotypes, with varying degrees of mental retardation, seizure activity, …