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Full-Text Articles in Medicine and Health Sciences
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
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
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
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 …
Bridging The Synapse: Seeing The World Through A Neuroscience Lens, Madeline Macarthur
Bridging The Synapse: Seeing The World Through A Neuroscience Lens, Madeline Macarthur
Chancellor’s Honors Program Projects
No abstract provided.
Seeing Eye To Eye: A Machine Learning Approach To Automated Saccade Analysis, Maigh Attre
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 …
Measuring Neural Time Series Data In A Sensory Deprivation Tank, Jackson Gregory, Tian Lan, Uri Maoz, Amir Raz
Measuring Neural Time Series Data In A Sensory Deprivation Tank, Jackson Gregory, Tian Lan, Uri Maoz, Amir Raz
Student Scholar Symposium Abstracts and Posters
We are interested in studying the neurological and physiological effects of the float pod, also known as REST therapy, or sensory deprivation tank. Float pods rely on the concept of depriving most senses (from sound and light to temperature and proprioception) in a pool filled with buoyant salt water at body temperature. While float pods are most commonly used in spa environments, we intend to look at the potential benefits of floating under the empirical lens. In this study, we aim to measure neural activity using electroencephalography (EEG). We intend to look at the different levels of relaxation and the …
The Extreme Effects Of ‘Not-So-Minor’ Concussions: Chronic Traumatic Encephalopathy Literature Review, Alyssa Pierson
The Extreme Effects Of ‘Not-So-Minor’ Concussions: Chronic Traumatic Encephalopathy Literature Review, Alyssa Pierson
Honors Theses
Many of the concerns that people have with chronic traumatic encephalopathy (CTE) have already been researched for almost a century, but recently, there has been a big push in CTE research. Previous research was done on boxing and football and has now expanded to other contact sports and the military. Risk factors for CTE include repetitive head trauma, the Apoe4 allele, and age of first exposure to brain trauma. A wide range of symptoms may present with CTE, from motor impairment to suicidal ideation. It is believed that a biopsychosocial model should be used when approaching the symptoms of CTE …
Ephrin-B3 Controls Excitatory Synapse Density Through Cell-Cell Competition For Ephbs., Nathan T. Henderson, Sylvain J. Le Marchand, Martin Hruska, Simon Hippenmeyer, Liqun Luo, Matthew B. Dalva
Ephrin-B3 Controls Excitatory Synapse Density Through Cell-Cell Competition For Ephbs., Nathan T. Henderson, Sylvain J. Le Marchand, Martin Hruska, Simon Hippenmeyer, Liqun Luo, Matthew B. Dalva
Department of Neuroscience Faculty Papers
Cortical networks are characterized by sparse connectivity, with synapses found at only a subset of axo-dendritic contacts. Yet within these networks, neurons can exhibit high connection probabilities, suggesting that cell-intrinsic factors, not proximity, determine connectivity. Here, we identify ephrin-B3 (eB3) as a factor that determines synapse density by mediating a cell-cell competition that requires ephrin-B-EphB signaling. In a microisland culture system designed to isolate cell-cell competition, we find that eB3 determines winning and losing neurons in a contest for synapses. In a Mosaic Analysis with Double Markers (MADM) genetic mouse model system in vivo the relative levels of eB3 control …
Ca2+ Sensor Synaptotagmin-1 Mediates Exocytosis In Mammalian Photoreceptors, Justin J. Grassmeyer, Asia L. Cahill, Cassandra L. Hays, Cody Barta, Rolen M. Quadros, Channabasavaiah B. Gurumurthy, Wallace B. Thoreson
Ca2+ Sensor Synaptotagmin-1 Mediates Exocytosis In Mammalian Photoreceptors, Justin J. Grassmeyer, Asia L. Cahill, Cassandra L. Hays, Cody Barta, Rolen M. Quadros, Channabasavaiah B. Gurumurthy, Wallace B. Thoreson
Journal Articles: Pharmacology & Experimental Neuroscience
To encode light-dependent changes in membrane potential, rod and cone photoreceptors utilize synaptic ribbons to sustain continuous exocytosis while making rapid, fine adjustments to release rate. Release kinetics are shaped by vesicle delivery down ribbons and by properties of exocytotic Ca2+ sensors. We tested the role for synaptotagmin-1 (Syt1) in photoreceptor exocytosis by using novel mouse lines in which Syt1 was conditionally removed from rods or cones. Photoreceptors lacking Syt1 exhibited marked reductions in exocytosis as measured by electroretinography and single-cell recordings. Syt1 mediated all evoked release in cones, whereas rods appeared capable of some slow Syt1-independent release. Spontaneous …
Neurohype And The Law: A Cautionary Tale, Stephen J. Morse
Neurohype And The Law: A Cautionary Tale, Stephen J. Morse
All Faculty Scholarship
This chapter suggests that for conceptual, empirical, and practical reasons, neuroscience in general and non-invasive brain imaging in particular are not likely to revolutionize the law and our conception of ourselves, but may make modest contributions to legal policy and case adjudication if the legal relevance of the science is properly understood.