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Full-Text Articles in Medicine and Health Sciences

Palmitoylation As A Regulator Of Maguk Proteins Postsynaptic Localization, Rozena Shirvani-Arani, Santiago Balderas, Yonghong Zhang, Xioaqian Fang Sep 2023

Palmitoylation As A Regulator Of Maguk Proteins Postsynaptic Localization, Rozena Shirvani-Arani, Santiago Balderas, Yonghong Zhang, Xioaqian Fang

Research Symposium

Synaptic plasticity is the ability of the brain to make changes and the changes occur at synapses. To achieve the complicated functions, a good number of proteins are present at synapse and are called synaptic proteins. To stabilize these proteins at synapses, proteins are modified through posttranslational modifications (PTMs). The most studied PTMs include phosphorylation, acetylation, ubiquitination, glycosylation, palmitoylation, etc. Palmitoylation is a type of lipid modification and has received more attention recently for its contribution to protein trafficking, localization, and interaction in various synaptic plasticity. The membrane-associated guanylate kinase (MAGUK) family includes PSD-95, PSD-93 (also known as chapsyn-110), SAP102, …


Differential Response Of C9orf72 Transcripts Following Neuronal Depolarization, Layla T. Ghaffari, Davide Trotti, Aaron R. Haeusler May 2023

Differential Response Of C9orf72 Transcripts Following Neuronal Depolarization, Layla T. Ghaffari, Davide Trotti, Aaron R. Haeusler

Farber Institute for Neuroscience Faculty Papers

The (G4C2)n nucleotide repeat expansion (NRE) mutation in C9orf72 is the most common genetic cause of ALS and FTD. The biological functions of C9orf72 are becoming understood, but it is unclear if this gene is regulated in a neural-specific manner. Neuronal activity is a crucial modifier of biological processes in health and neurodegenerative disease contexts. Here, we show that prolonged membrane depolarization in healthy human iPSC-cortical neurons leads to a significant downregulation of a transcript variant 3 (V3) of C9orf72, with a concomitant increase in variant 2 (V2), which leads to total C9orf72 RNA transcript levels remaining unchanged. However, the …


Investigating Physical Therapy Students’ Perceived Levels Of Self-Confidence To Apply Sensory Neuroscience Concepts, Jeanne Welch, Olawunmi Obisesan May 2023

Investigating Physical Therapy Students’ Perceived Levels Of Self-Confidence To Apply Sensory Neuroscience Concepts, Jeanne Welch, Olawunmi Obisesan

Research Day

Purpose/Hypothesis: Guided by the theory of social constructivism, the purpose of this study was to investigate the overall impact of an experiential summative group assignment, The Great Toe Assignment (TGTA), on Doctor of Physical Therapy students’ perceptions of their level of self-confidence in applying sensory neuroscience concepts learned during an academic term. This study’s research questions were: What is the overall impact of an experiential summative group assignment on students’ perceptions of self-confidence in applying neuroscience concepts learned during an academic term? Are there any statistically significant differences in measurements of perceptions of students’ level of self-confidence measured at Week …


Toward A Comprehensive Account Of Orientation Selectivity In The Retina., Megan Zipperer May 2023

Toward A Comprehensive Account Of Orientation Selectivity In The Retina., Megan Zipperer

Electronic Theses and Dissertations

Retinal Ganglion Cells (RGCs) form functionally distinct signaling channels that selectively encode features of the visual input including direction of motion, contrast polarity, size, and color. A highly conserved visual channel amongst vertebrates conveys orientation selectivity, i.e., the selective firing of neuronal cells in response to elongated stimuli along a preferred orientation. Orientation selectivity is an apparent critical computation and several studies have reported aspects of it, including cell type identity in anatomical reconstructions, and functional characterization of at least four different identified RGC types. But how cell types in the different studies relate is not well resolved; the mechanisms …


Redefining Drug Education: A Neuroscience-Based Class For High Schoolers, Talia Frost-Belansky Apr 2023

Redefining Drug Education: A Neuroscience-Based Class For High Schoolers, Talia Frost-Belansky

WWU Honors College Senior Projects

There is a desperate need to move beyond abstinence-only drug education for high schoolers to address rising overdose rates and acknowledge an industry targeting teenagers for highly potent drugs. Neuroscience offers students insight into how drugs affect the reward system and alter the ability for endogenous systems to modulate essential functions. I created a lesson plan titled, “The Neuroscience of Addiction” for a class at Sehome High School for students in grades 9-12. The presentation addresses the role of dopamine in addiction, the discrepancy between drug policy and scientific understanding, how potency affects tolerance, how motivation for drug seeking evolves …


Evaluating Law Enforcement De-Escalation Tactics Used With Individuals Exhibiting Psychotic Symptomology, Jasmine Morgan Apr 2023

Evaluating Law Enforcement De-Escalation Tactics Used With Individuals Exhibiting Psychotic Symptomology, Jasmine Morgan

Senior Theses and Projects

This study evaluated the use of de-escalation measures utilized by police officers in the state of Connecticut. In particular, it focused on the use of training measures used in conjunction with individuals displaying symptoms of severe mental illness, more specifically psychotic disorders. Data was collected via an online software, allowing participants to undergo a series of survey and hypothetical scenario-based questions. The study examined demographic information, trainings regarding weapon exposure and mental illness, and de-escalation tactics used when interacting with individuals showing symptoms of psychosis. Regarding sample demographics, it was found that the 22 participants were mostly Caucasian (77%), male …


Differential Expression Of Interferon-Induced Protein With Tetratricopeptide Repeats 3 (Ifit3) In Alzheimer's Disease And Hiv-1 Associated Neurocognitive Disorders, Armando Garces, Bryan Martinez, Roberto De La Garza, Deepa Roy, Kaylie-Anna Vallee, Jerel Adam Fields, David J. Moore, Hansapani Rodrigo, Upal Roy Feb 2023

Differential Expression Of Interferon-Induced Protein With Tetratricopeptide Repeats 3 (Ifit3) In Alzheimer's Disease And Hiv-1 Associated Neurocognitive Disorders, Armando Garces, Bryan Martinez, Roberto De La Garza, Deepa Roy, Kaylie-Anna Vallee, Jerel Adam Fields, David J. Moore, Hansapani Rodrigo, Upal Roy

Health & Biomedical Sciences Faculty Publications and Presentations

The United Nations projects that one in every six people will be over the age of 65 by the year 2050. With a rapidly aging population, the risk of Alzheimer's disease (AD) becomes a major concern. AD is a multifactorial disease that involves neurodegeneration in the brain with mild dementia and deficits in memory and other cognitive domains. Additionally, it has been established that individuals with Human Immunodeficiency Virus-1 (HIV-1) experience a 5 to 10-year accelerated aging and an increased risk of developing HIV-associated neurocognitive disorders (HAND). Despite a significant amount of clinical evidence pointing towards a potential overlap between …


Differentiating Pc12 Cells To Evaluate Neurite Densities Through Live-Cell Imaging, Jordyn Karliner, Diane E Merry Jan 2023

Differentiating Pc12 Cells To Evaluate Neurite Densities Through Live-Cell Imaging, Jordyn Karliner, Diane E Merry

Department of Biochemistry and Molecular Biology Faculty Papers

Although PC12 cells are a valuable tool in neuroscience research, previously published PC12 cell differentiation techniques fail to consider the variability in differentiation rates between different PC12 cell strains and clonal variants. Here, we present a comprehensive protocol to differentiate PC12 cells into equivalent neurite densities through live-cell imaging for morphological, immunocytochemical, and biochemical analyses. We detail steps on optimized substrate coating, plating techniques, culture media, validation steps, and quantification techniques.


A Single-Case Alternating Treatments Design Utilzing Quantitative Electroencephalography To Observe And Measure Mental State Trends During Individual Participant Non-Nature-Based Small Initiative Adventure Therapy Experiences, Patrick Lane Robert Mcmillion Jan 2023

A Single-Case Alternating Treatments Design Utilzing Quantitative Electroencephalography To Observe And Measure Mental State Trends During Individual Participant Non-Nature-Based Small Initiative Adventure Therapy Experiences, Patrick Lane Robert Mcmillion

Graduate Research Theses & Dissertations

This single-case alternating-treatments design research study observed and measured mental state trends during the counseling approach known as Adventure Therapy (AT) using quantitative electroencephalography (qEEG). Participants wore a qEEG headset while participating in a multi-stage AT experience. Two problems were addressed in this study. The first was the lack of research in AT utilizing other empirical measures beyond subjective report surveys and the outcomes of specific programs. The second was the lack of neuroscientific measurement of counseling approaches and interventions within the field of counseling in general. There is a need for empirical evidence supporting AT to address access barriers …


The Role Of The Nlrp3 Inflammasome In Alzheimer's Disease, Ethan S. Terman Jan 2023

The Role Of The Nlrp3 Inflammasome In Alzheimer's Disease, Ethan S. Terman

Undergraduate Research Posters

This study examines the consequences of Alzheimer’s in rat and mice test subjects. The goal is to identify the effects of certain NLRP3 inhibiting drugs and to see if there are any noticeable effects in regards to impeding the pathological development of Alzheimer’s disease. The results are visualized by implementing the immunohistochemical process to identify neurodegeneration in the brain and to assess the expression levels of amyloid beta as an indicator of Alzheimer’s pathology. Other tests are also conducted on these transgenic mice to gauge cognitive functioning levels during the onset of their disease, those being behavior tests, but not …


Shared Brain And Genetic Architectures Between Mental Health And Physical Activity, Wei Zhang, Sarah E. Paul, Anderson M. Winkler, Ryan Bogdan, Janine D. Bijsterbosch Oct 2022

Shared Brain And Genetic Architectures Between Mental Health And Physical Activity, Wei Zhang, Sarah E. Paul, Anderson M. Winkler, Ryan Bogdan, Janine D. Bijsterbosch

School of Medicine Publications and Presentations

Physical activity is correlated with, and effectively treats various forms of psychopathology. However, whether biological correlates of physical activity and psychopathology are shared remains unclear. Here, we examined the extent to which the neural and genetic architecture of physical activity and mental health are shared. Using data from the UK Biobank (N = 6389), we applied canonical correlation analysis to estimate associations between the amplitude and connectivity strength of subnetworks of three major neurocognitive networks (default mode, DMN; salience, SN; central executive networks, CEN) with accelerometer-derived measures of physical activity and self-reported mental health measures (primarily of depression, anxiety …


Brain-Wide Analysis Of The Supraspinal Connectome Reveals Anatomical Correlates To Functional Recovery After Spinal Injury, Zimei Wang, Adam Romanski, Vatsal Mehra, Yunfang Wang, Matthew Brannigan, Benjamin C. Campbell, Gregory A. Petsko, Pantelis Tsoulfas, Murray G. Blackmore Jul 2022

Brain-Wide Analysis Of The Supraspinal Connectome Reveals Anatomical Correlates To Functional Recovery After Spinal Injury, Zimei Wang, Adam Romanski, Vatsal Mehra, Yunfang Wang, Matthew Brannigan, Benjamin C. Campbell, Gregory A. Petsko, Pantelis Tsoulfas, Murray G. Blackmore

Biomedical Sciences Faculty Research and Publications

The supraspinal connectome is essential for normal behavior and homeostasis and consists of numerous sensory, motor, and autonomic projections from brain to spinal cord. Study of supraspinal control and its restoration after damage has focused mostly on a handful of major populations that carry motor commands, with only limited consideration of dozens more that provide autonomic or crucial motor modulation. Here, we assemble an experimental workflow to rapidly profile the entire supraspinal mesoconnectome in adult mice and disseminate the output in a web-based resource. Optimized viral labeling, 3D imaging, and registration to a mouse digital neuroanatomical atlas assigned tens of …


Computational Modeling Of Threat Learning Reveals Links With Anxiety And Neuroanatomy In Humans, Rany Abend, Diana Burk, Sonia G. Ruiz, Andrea L. Gold, Julia L. Napoli, Jennifer C. Britton, Kalina J. Michalska, Tomer Shechner, Anderson M. Winkler, Ellen Leibenluft Apr 2022

Computational Modeling Of Threat Learning Reveals Links With Anxiety And Neuroanatomy In Humans, Rany Abend, Diana Burk, Sonia G. Ruiz, Andrea L. Gold, Julia L. Napoli, Jennifer C. Britton, Kalina J. Michalska, Tomer Shechner, Anderson M. Winkler, Ellen Leibenluft

School of Medicine Publications and Presentations

Influential theories implicate variations in the mechanisms supporting threat learning in the severity of anxiety symptoms. We use computational models of associative learning in conjunction with structural imaging to explicate links among the mechanisms underlying threat learning, their neuroanatomical substrates, and anxiety severity in humans. We recorded skin-conductance data during a threat-learning task from individuals with and without anxiety disorders (N=251; 8-50 years; 116 females). Reinforcement-learning model variants quantified processes hypothesized to relate to anxiety: threat conditioning, threat generalization, safety learning, and threat extinction. We identified the best-fitting models for these processes and tested associations among latent learning parameters, whole-brain …


An Unfinished Melody: Mental Illness, Worship Music, And The Tension Of The Pentecostal “Now” And “Not Yet, Brianna Turbeville Apr 2022

An Unfinished Melody: Mental Illness, Worship Music, And The Tension Of The Pentecostal “Now” And “Not Yet, Brianna Turbeville

Masters of Theological Studies

According to the National Institute of Mental Health, it is estimated that nearly 20% of adults within the United States suffer from some form of mental illness.1 With roughly one-fifth, if not more, of the entire U.S. population facing a daily internal battle of some sort, this is an issue that is certainly elemental to the overarching purpose of the Church as an agent of reconciliation of creation with Creator. A prevalent problem requires prevalent solutions. What is something even more pervasive in every culture than mental health? Music. Melodies and lyrics are native to virtually every individual on earth. …


Physiological Effects Of Activity-Based Anorexia In Female Rats And An Overview Of Eating Disorders, Madelyn Uyemura Jan 2022

Physiological Effects Of Activity-Based Anorexia In Female Rats And An Overview Of Eating Disorders, Madelyn Uyemura

Regis University Student Publications (comprehensive collection)

The aim of this thesis is to bring AN to the foreground of conversation both in a scientific and sociological framework. Nearly 40 million Americans suffer from anxiety disorders, which is characterized by the feeling of a loss of control. In some cases, another disorder called anorexia nervosa (AN) can codevelop. AN is characterized by a refusal, and inability, to maintain a healthy body weight. Some suffering from anxiety may restrict caloric intake and increase exercise to cope with stress. This results in extreme caloric deprivation. AN can be modeled in rats using an activity-based anorexia (ABA) method. In …


Backward Walking: A Novel Marker Of Fall Risk, Cognitive Dysfunction, And Myelin Damage In Persons With Multiple Sclerosis, Erin Edwards Jan 2022

Backward Walking: A Novel Marker Of Fall Risk, Cognitive Dysfunction, And Myelin Damage In Persons With Multiple Sclerosis, Erin Edwards

Wayne State University Dissertations

Multiple sclerosis (MS) is a progressive, neurologic disease of the central nervous system that causes debilitating motor, sensory and cognitive impairments. As a result, persons with MS are at an increased risk for falls and falls represent a serious public health concern for the MS population. The current clinical measures used to assess fall risk in MS patients lack sensitivity and predictive validity for falls and are limited in their ability to capture to multiple functional domains (i.e., motor, sensory, cognitive and pathological domains) that are impaired by MS. Backward walking sensitively detects falls in the elderly and other neurologic …


Medical Schools Ignore The Nature Of Consciousness At Great Cost, Anoop Kumar Jul 2021

Medical Schools Ignore The Nature Of Consciousness At Great Cost, Anoop Kumar

Journal of Wellness

The essential question of the relationship between consciousness and matter is ignored in medical school curricula, leading to a machine-like view of the human being that contributes to physician burnout and intellectual dissatisfaction. The evidence suggesting that the brain may not be the seat of consciousness is generally ignored to preserve the worldview of the primacy of matter. By investigating new frameworks detailing the nature of consciousness at different levels of hierarchy, we can bring intellectual rigor to a once opaque subject that supports a fundamental reality about our experience: We are human beings, not only human bodies.


Aberrant Azin2 And Polyamine Metabolism Precipitates Tau Neuropathology, Leslie A. Sandusky-Beltran, Andrii Kovalenko, Devon S. Placides, Kevin Ratnasamy, Chao Ma, Jerry B. Hunt, Huimin Liang, John Ivan T. Calahatian, Camilla Michalski, Margaret Fahnestock, Laura J. Blair, April L. Darling, Jeremy D. Baker, Sarah N. Fontaine, Chad A. Dickey, Joshua J. Gamsby, Kevin R. Nash, Erin L. Abner, Maj-Linda B. Selenica, Daniel C. Lee Feb 2021

Aberrant Azin2 And Polyamine Metabolism Precipitates Tau Neuropathology, Leslie A. Sandusky-Beltran, Andrii Kovalenko, Devon S. Placides, Kevin Ratnasamy, Chao Ma, Jerry B. Hunt, Huimin Liang, John Ivan T. Calahatian, Camilla Michalski, Margaret Fahnestock, Laura J. Blair, April L. Darling, Jeremy D. Baker, Sarah N. Fontaine, Chad A. Dickey, Joshua J. Gamsby, Kevin R. Nash, Erin L. Abner, Maj-Linda B. Selenica, Daniel C. Lee

Sanders-Brown Center on Aging Faculty Publications

Tauopathies display a spectrum of phenotypes from cognitive to affective behavioral impairments; however, mechanisms promoting tau pathology and how tau elicits behavioral impairment remain unclear. We report a unique interaction between polyamine metabolism, behavioral impairment, and tau fate. Polyamines are ubiquitous aliphatic molecules that support neuronal function, axonal integrity, and cognitive processing. Transient increases in polyamine metabolism hallmark the cell’s response to various insults, known as the polyamine stress response (PSR). Dysregulation of gene transcripts associated with polyamine metabolism in Alzheimer’s disease (AD) brains were observed, and we found that ornithine decarboxylase antizyme inhibitor 2 (AZIN2) increased to …


Linking Brain Structure To Function To Value-Based Choice, Josiah Leong Nov 2020

Linking Brain Structure To Function To Value-Based Choice, Josiah Leong

Publications and Presentations

What humans choose and how their brains make choices are central questions in psychology and neuroscience. Neuroimaging research is advancing models of functional brain activity that not only correlate with, but also predict, value-based choices in humans. Physiological research in animals suggests that monosynaptic axons structurally connect the brain circuits predictive of choice. However, similar structural connections have only recently been characterized in humans, and researchers are now starting to explore links from structural brain connections to functional brain activity to behavioral choice. In this lecture, Leong presents recent findings that link multimodal neuroimaging measurements to individual differences in value-based …


Evaluation Of Aging And Genetic Mutation Variants On Tauopathy, Amber M. Tetlow Nov 2020

Evaluation Of Aging And Genetic Mutation Variants On Tauopathy, Amber M. Tetlow

USF Tampa Graduate Theses and Dissertations

Alzheimer’s disease (AD) is characterized by amyloid β plaques and neurofibrillary tau tangles (NFTs). While research has demonstrated amyloid pathology occurs prior to tau pathology, or tauopathy, tau has proven to be more toxic. Tauopathy is associated with cognitive declines and neurodegeneration. These findings have highlighted the importance of further understanding tauopathy. In the progression of tauopathy, there is an observable immune response that can be measured by glial cells such as microglia. Activated microglia are known to exacerbate tauopathy rather than reducing the pathology. Research has indicated that with increased age there is an increased risk for AD-related tauopathy …


Meaning In Architecture: Affordances, Atmosphere And Mood, Bob Condia, Michael Arbib, Colin Ellard, Brent Chamberlain, Kevin Rooney Apr 2020

Meaning In Architecture: Affordances, Atmosphere And Mood, Bob Condia, Michael Arbib, Colin Ellard, Brent Chamberlain, Kevin Rooney

NPP eBooks

Abstract: Meaning in Architecture: Affordances, Atmosphere and Mood, began as a public forum about human awareness of building, specifically speaking to the significance of affordances, embodied simulation theory, atmosphere and mood. It is herewith presented in copy form for broader distribution. An exchange between scientists and architects, this symposium was the inaugural Interface event of ANFA (the Academy of Neuroscience for Architecture, Salk Institute) held 17 April 2018 in the Regnier Forum of APDesign, Kansas State University. The authors for Meaning in Architecture: Affordances, Atmosphere and Mood will escort you to the intersection of deep brain function, as studied by …


Predator Odor Stress On Stress And Metabolic Endocrine, Morgan Block, Katie Wilk Apr 2020

Predator Odor Stress On Stress And Metabolic Endocrine, Morgan Block, Katie Wilk

Student Scholars Day Posters

It is known that the brain and gut ‘talk’ to each other, which is important for both physical and mental health as shown by associations between metabolic syndrome and mental illness in humans. Neuropeptides found in both the brain and gut are active in this communication and may mediate links between stress, metabolism, and psychopathology. This study aims to determine whether single exposure to predator odor is able to produce long-term changes in the endocrine system as measured by plasma concentrations of the “stress hormone” corticosterone and “hunger hormone” ghrelin. Male and female mice were exposed to one hour of …


Multi-Domain Cognitive Assessment Of Male Mice Shows Space Radiation Is Not Harmful To High-Level Cognition And Actually Improves Pattern Separation, Cody W. Whoolery, Sanghee Yun, Ryan P. Reynolds, Melanie J. Lucero, Ivan Soler, Fionya H. Tran, Naoki Ito, Rachel L. Redfield, Devon R. Richardson, Hung-Ying Shih, Phillip D. Rivera, Benjamin P. C. Chen, Shari G. Birnbaum, Ann M. Stowe, Amelia J. Eisch Feb 2020

Multi-Domain Cognitive Assessment Of Male Mice Shows Space Radiation Is Not Harmful To High-Level Cognition And Actually Improves Pattern Separation, Cody W. Whoolery, Sanghee Yun, Ryan P. Reynolds, Melanie J. Lucero, Ivan Soler, Fionya H. Tran, Naoki Ito, Rachel L. Redfield, Devon R. Richardson, Hung-Ying Shih, Phillip D. Rivera, Benjamin P. C. Chen, Shari G. Birnbaum, Ann M. Stowe, Amelia J. Eisch

Neurology Faculty Publications

Astronauts on interplanetary missions - such as to Mars - will be exposed to space radiation, a spectrum of highly-charged, fast-moving particles that includes 56Fe and 28Si. Earth-based preclinical studies show space radiation decreases rodent performance in low- and some high-level cognitive tasks. Given astronaut use of touchscreen platforms during training and space flight and given the ability of rodent touchscreen tasks to assess functional integrity of brain circuits and multiple cognitive domains in a non-aversive way, here we exposed 6-month-old C57BL/6J male mice to whole-body space radiation and subsequently assessed them on a touchscreen battery. Relative to …


Mechanisms Of Value-Biased Prioritization In Fast Sensorimotor Decision Making, Kivilcim Afacan-Seref Jan 2020

Mechanisms Of Value-Biased Prioritization In Fast Sensorimotor Decision Making, Kivilcim Afacan-Seref

Dissertations and Theses

In dynamic environments, split-second sensorimotor decisions must be prioritized according to potential payoffs to maximize overall rewards. The impact of relative value on deliberative perceptual judgments has been examined extensively, but relatively little is known about value-biasing mechanisms in the common situation where physical evidence is strong but the time to act is severely limited. This research examines the behavioral and electrophysiological indices of how value biases split-second perceptual decisions and the possible mechanisms underlying the process. In prominent decision models, a noisy but statistically stationary representation of sensory evidence is integrated over time to an action-triggering bound, and value-biases …


Assessing Morphology Of Iprgcs After Traumatic Brain Injury, Brian Foresi, Matt Smith Jan 2020

Assessing Morphology Of Iprgcs After Traumatic Brain Injury, Brian Foresi, Matt Smith

Williams Honors College, Honors Research Projects

ipRGCs are retinal ganglion cells that project to visual processing centers of the brain for nonimage forming visual functions. The relation of ipRGCs to tramatic brain injury (TBI) is emerging as data has been published describing ipRGC functional changes in TBI affected military veterans. Major symptomologies of concussions, a mild form of TBI, also overlap with the function governed by sites in the brain with major ipRGC projection percentages. Assesing if a morphological change is occuring in the ipRGCs after a TBI could support the idea of a pathological mechanism of the injury. This study could also indicate further relevance …


Melanopsin-Expressing Retinal Ganglion Cells In Control Vs. Glaucomatous Retinas, Edward Hamad Jan 2020

Melanopsin-Expressing Retinal Ganglion Cells In Control Vs. Glaucomatous Retinas, Edward Hamad

Williams Honors College, Honors Research Projects

Glaucoma is a common cause of vision loss worldwide and has a large scope of symptoms, ranging from pupillary reflex defects to sleep disorders. These issues can be explained partially by a recently found subtype of retinal ganglion cells that express melanopsin, denoted melanopsin-expressing retinal ganglion cells or mRGCs for short. These cells function primarily as photoreceptors in the non-image forming pathway, but can receive input from rods and cones. Since mRGCs play a role in the pupillary reflex and regulation of the sleep-wake cycle, I investigated if glaucoma leads to the degeneration of these cells in a mouse model …


Allele-Specific Rna Interference Prevents Neuropathy In Charcot-Marie-Tooth Disease Type 2d Mouse Models., Kathryn H Morelli, Laurie B Griffin, Nettie K Pyne, Lindsay M Wallace, Allison M Fowler, Stephanie N Oprescu, Ryuichi Takase, Na Wei, Rebecca Meyer-Schuman, Dattatreya Mellacheruvu, Jacob O Kitzman, Samuel G Kocen, Timothy J Hines, Emily L Spaulding, James R Lupski, Alexey Nesvizhskii, Pedro Mancias, Ian J Butler, Xiang-Lei Yang, Ya-Ming Hou, Anthony Antonellis, Scott Q Harper, Robert W Burgess Dec 2019

Allele-Specific Rna Interference Prevents Neuropathy In Charcot-Marie-Tooth Disease Type 2d Mouse Models., Kathryn H Morelli, Laurie B Griffin, Nettie K Pyne, Lindsay M Wallace, Allison M Fowler, Stephanie N Oprescu, Ryuichi Takase, Na Wei, Rebecca Meyer-Schuman, Dattatreya Mellacheruvu, Jacob O Kitzman, Samuel G Kocen, Timothy J Hines, Emily L Spaulding, James R Lupski, Alexey Nesvizhskii, Pedro Mancias, Ian J Butler, Xiang-Lei Yang, Ya-Ming Hou, Anthony Antonellis, Scott Q Harper, Robert W Burgess

Department of Biochemistry and Molecular Biology Faculty Papers

Gene therapy approaches are being deployed to treat recessive genetic disorders by restoring the expression of mutated genes. However, the feasibility of these approaches for dominantly inherited diseases - where treatment may require reduction in the expression of a toxic mutant protein resulting from a gain-of-function allele - is unclear. Here we show the efficacy of allele-specific RNAi as a potential therapy for Charcot-Marie-Tooth disease type 2D (CMT2D), caused by dominant mutations in glycyl-tRNA synthetase (GARS). A de novo mutation in GARS was identified in a patient with a severe peripheral neuropathy, and a mouse model precisely recreating the mutation …


Alpha Synuclein In Hematopoiesis And Immunity, Robert W. Maitta Oct 2019

Alpha Synuclein In Hematopoiesis And Immunity, Robert W. Maitta

Faculty Scholarship

Parkinson's disease (PD) is the second most common neurodegenerative condition and intracellular deposition of Lewy bodies in the substantia nigra (SN), which can cause dopaminergic neuronal death, is the hallmark of this syndrome. α-synuclein (syn) is a small protein expressed mainly in neurons but can also be found in a number of tissues. It can be present as a soluble monomer under normal physiological conditions, but can be toxic in its oligomeric or fibrillary forms. Most of the available literature has focused on the effects of α-syn pathology in the mechanisms leading to PD. However, the normal functions of α-syn …


Understanding The Neural Bases Of Implicit And Statistical Learning, Laura J. Batterink, Ken A. Paller, Paul J. Reber Jul 2019

Understanding The Neural Bases Of Implicit And Statistical Learning, Laura J. Batterink, Ken A. Paller, Paul J. Reber

Brain and Mind Institute Researchers' Publications

© 2019 Cognitive Science Society, Inc. Both implicit learning and statistical learning focus on the ability of learners to pick up on patterns in the environment. It has been suggested that these two lines of research may be combined into a single construct of “implicit statistical learning.” However, by comparing the neural processes that give rise to implicit versus statistical learning, we may determine the extent to which these two learning paradigms do indeed describe the same core mechanisms. In this review, we describe current knowledge about neural mechanisms underlying both implicit learning and statistical learning, highlighting converging findings between …


Seeing Eye To Eye: A Machine Learning Approach To Automated Saccade Analysis, Maigh Attre May 2019

Seeing Eye To Eye: A Machine Learning Approach To Automated Saccade Analysis, Maigh Attre

Honors Scholar Theses

Abnormal ocular motility is a common manifestation of many underlying pathologies particularly those that are neurological. Dynamics of saccades, when the eye rapidly changes its point of fixation, have been characterized for many neurological disorders including concussions, traumatic brain injuries (TBI), and Parkinson’s disease. However, widespread saccade analysis for diagnostic and research purposes requires the recognition of certain eye movement parameters. Key information such as velocity and duration must be determined from data based on a wide set of patients’ characteristics that may range in eye shapes and iris, hair and skin pigmentation [36]. Previous work on saccade analysis has …