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Essential Pathways and Circuits of Autism Pathogenesis

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889199051 Year: Pages: 181 DOI: 10.3389/978-2-88919-905-1 Language: English
Publisher: Frontiers Media SA
Subject: Science (General) --- Neurology --- Genetics
Added to DOAB on : 2016-01-19 14:05:46
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The Centers for Disease Control and Prevention estimate that 1 in 68 children in the United states is afflicted with autism spectrum disorders (ASD), yet at this time, there is no cure for the disease. Autism is characterized by delays in the development of many basic skills, most notably the ability to socialize and adapt to novelty. The condition is typically identified in children around 3 years of age, however the high heritability of autism suggests that the disease process begins at conception. The identification of over 500 ASD risk genes, has enabled the molecular genetic dissection of the pathogenesis of the disease in model organisms such as mice. Despite the genetic heterogeneity of ASD etiology, converging evidence suggests that these disparate genetic lesions may result in the disruption of a limited number of key biochemical pathways or circuits. Classification of patients into groups by pathogenic rather than etiological categories, will likely aid future therapeutic development and clinical trials. In this set of papers, we explore the existing evidence supporting this view. Specifically, we focus on biochemical cascades such as mTOR and ERK signaling, the mRNA network bound by FMRP and UBE3A, dorsal and ventral striatal circuits, cerebellar circuits, hypothalamic projections, as well as prefrontal and anterior cingulate cortical circuits. Special attention will be given to studies that demonstrate the necessity and/or sufficiency of genetic disruptions (e.g. by molecular deletion and/or replacement) in these pathways and circuits for producing characteristic behavioral features of autism. Necessarily these papers will be heavily weighted towards basic mechanisms elucidated in animal models, but may also include investigations in patients.

The Cerebellum: From Development to Learning

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889196197 Year: Pages: 110 DOI: 10.3389/978-2-88919-619-7 Language: English
Publisher: Frontiers Media SA
Subject: Science (General) --- Neurology
Added to DOAB on : 2016-08-16 10:34:25
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In this book, laboratory leaders on cerebellar neuroscience have revised the present body of knowledge about cerebellum anatomy and function. The trip throughout the cerebellar vineyard organization starts from the causal study of morphogenesis (that is, the molecular and cellular mechanisms underplaying form generation) to the molecular mechanism regulation cellular differentiation: Basson, Dusart, Hawkes, Martinez and Rosi’s groups contributions. Then, neurodevelopmental anomalies associated with structural disorganization are revised in Jissendi and Batkovich’s group reviews, describing and discussing pathogenic processes. Finally, functional mechanisms of cerebellar circuits involved in motor learning are revised by Delgado-Garcia and Armengol’s group contribution.

Ocular Motor and Vestibular Function in Neurometabolic, Neurogenetic, and Neurodegenerative Disorders

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889455638 Year: Pages: 247 DOI: 10.3389/978-2-88945-563-8 Language: English
Publisher: Frontiers Media SA
Subject: Medicine (General) --- Neurology
Added to DOAB on : 2019-01-23 14:53:43
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Eye movements provide rich source of information about brain functioning for neurologists and neuroscientists. They provide diagnostic clues, define, and localize motor and cognitive disorders. Objective eye movement assessments associated with clinical observation and genetic testing in neurodegenerative, neurometabolic, and neurogenetic diseases provide insight into their pathophysiology and disease mechanism. Finally the eye movements may be used for testing and following the response to therapies. The concrete value of studying eye movement stems from a number of advantages compared to the study of movements of axial or limb muscles.

The eye movements are accessible to clinical inspection, they can be measured precisely, their interpretation is clear and therefore ocular motility examination has high localization value. There are several standardized tasks to study of each subclass of eye movements that are recognized for motor or cognitive behavior. Indeed the studies of eye movement had allowed test of motor and cognitive functions of the brain in a vast range of neurological disease. Both cortical and subcortical dysfunctions may be detected with the analysis of subclasses of eye movements and interpreted in association with other clinical, laboratory and neuroimaging features.

The goal of this topic-focused volume of Frontiers in Neurology is to gather seminal studies, from well-known scientists and laboratories from across the world, delineating the features of eye movements and vestibular system in neurogenetic, neurometabolic, and neurodegenerative disorders. Such collection of articles, to our knowledge, is unique and never done in the past. The topics and the compilation will be of interest to broad groups of neuroscientists and neurologists for the reasons as follows:

1) Neurodegenerative diseases represent a large portion of neurological diseases encountered in neurological clinical practice. Eye movement changes may occur early in their course and may be specific, thus orienting the diagnosis.

2) Neurometabolic and neurogenetic conditions, although rare, show specific and characteristic eye movements that represent the hallmark of the disease. Such disorders often represent a pathologic model that helps to understand the normal functioning of specific brain regions and networks.

Neural Circuits: Japan

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889194377 Year: Pages: 220 DOI: 10.3389/978-2-88919-437-7 Language: English
Publisher: Frontiers Media SA
Subject: Neurology --- Science (General)
Added to DOAB on : 2016-01-19 14:05:46
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This Frontiers Research Topic on ‘Neural Circuits: Japan’ explores the diversity of neural circuit research occurring across Japan by innovative researchers using cutting-edge approaches. This issue has brought together papers revealing the development, structure, and physiology of neuronal circuits involved in sensory perception, sleep and wakefulness, behavioral selection, and motor command generation in a range of species from the nematode to the primate. Like the USA and Europe, Japan is now making a strong effort to elucidate neural circuit function in diverse organisms by taking advantages of optogenetics and innovative approaches for gene manipulation, traditional physiological and anatomical approaches, and neural pathway-selective inactivation techniques that have recently been developed in Japan.

The Role of Glia in Plasticity and Behavior

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889196906 Year: Pages: 104 DOI: 10.3389/978-2-88919-690-6 Language: English
Publisher: Frontiers Media SA
Subject: Neurology --- Science (General)
Added to DOAB on : 2016-04-07 11:22:02
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Glial cells are no longer considered passive bystanders in neuronal brain circuits. Not only are they required for housekeeping and brain metabolism, they are active participants in regulating the physiological function and plasticity of brain circuits and the online control of behavior both in invertebrate and vertebrate model systems. In invertebrates, glial cells are essential for normal function of sensory organs (C. elegans) and necessary for the circadian regulation of locomotor activity (D. melanogaster). In the mamallian brain, astrocytes are implicated in the regulation of cortical brain rhythms and sleep homeostasis. Disruption of AMPA receptor function in a subset of glial cell types in mice shows behavioral deficits. Furthermore, genetic disruption of glial cell function can directly control behavioral output. Regulation of ionic gradients by glia can underlie bistability of neurons and can modulate the fidelity of synaptic transmission. Grafting of human glial progenitor cells in mouse forebrain results in human glial chimeric mice with enhanced plasticity and improved behavioral performance, suggesting that astrocytes have evolved to cope with information processing in more complex brains. Taken together, current evidence is strongly suggestive that glial cells are essential contributors to information processing in the brain. This Research Topic compiles recent research that shows how the molecular mechanisms underlying glial cell function can be dissected, reviews their impact on plasticity and behavior across species and presents novel approaches to further probe their function.

Keywords

glia --- Astrocytes --- plasticity --- Behavior --- Gq --- DREADD --- C. elegans --- Hippocampus --- Cerebellum --- Cortex

Neuro-motor control and feed-forward models of locomotion in humans

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889196142 Year: Pages: 190 DOI: 10.3389/978-2-88919-614-2 Language: English
Publisher: Frontiers Media SA
Subject: Science (General) --- Neurology
Added to DOAB on : 2016-08-16 10:34:25
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Locomotion involves many different muscles and the need of controlling several degrees of freedom. Despite the Central Nervous System can finely control the contraction of individual muscles, emerging evidences indicate that strategies for the reduction of the complexity of movement and for compensating the sensorimotor delays may be adopted. Experimental evidences in animal and lately human model led to the concept of a central pattern generator (CPG) which suggests that circuitry within the distal part of CNS, i.e. spinal cord, can generate the basic locomotor patterns, even in the absence of sensory information. Different studies pointed out the role of CPG in the control of locomotion as well as others investigated the neuroplasticity of CPG allowing for gait recovery after spinal cord lesion. Literature was also focused on muscle synergies, i.e. the combination of (locomotor) functional modules, implemented in neuronal networks of the spinal cord, generating specific motor output by imposing a specific timing structure and appropriate weightings to muscle activations. Despite the great interest that this approach generated in the last years in the Scientific Community, large areas of investigations remain available for further improvement (e.g. the influence of afferent feedback and environmental constrains) for both experimental and simulated models. However, also supraspinal structures are involved during locomotion, and it has been shown that they are responsible for initiating and modifying the features of this basic rhythm, for stabilising the upright walking, and for coordinating movements in a dynamic changing environment. Furthermore, specific damages into spinal and supraspinal structures result in specific alterations of human locomotion, as evident in subjects with brain injuries such as stroke, brain trauma, or people with cerebral palsy, in people with death of dopaminergic neurons in the substantia nigra due to Parkinson’s disease, or in subjects with cerebellar dysfunctions, such as patients with ataxia. The role of cerebellum during locomotion has been shown to be related to coordination and adaptation of movements. Cerebellum is the structure of CNS where are conceivably located the internal models, that are neural representations miming meaningful aspects of our body, such as input/output characteristics of sensorimotor system. Internal model control has been shown to be at the basis of motor strategies for compensating delays or lacks in sensorimotor feedbacks, and some aspects of locomotion need predictive internal control, especially for improving gait dynamic stability, for avoiding obstacles or when sensory feedback is altered or lacking. Furthermore, despite internal model concepts are widespread in neuroscience and neurocognitive science, neurorehabilitation paid far too little attention to the potential role of internal model control on gait recovery. Many important scientists have contributed to this Research Topic with original studies, computational studies, and review articles focused on neural circuits and internal models involved in the control of human locomotion, aiming at understanding the role played in control of locomotion of different neural circuits located at brain, cerebellum, and spinal cord levels.

Distributed Networks: New Outlooks on Cerebellar Function

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889196265 Year: Pages: 211 DOI: 10.3389/978-2-88919-626-5 Language: English
Publisher: Frontiers Media SA
Subject: Science (General) --- Neurology
Added to DOAB on : 2016-08-16 10:34:25
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Accumulating evidence suggests that the cerebellum subserves functions beyond the sensorimotor realm. This possibility has received considerable attention during the past quarter century, with recent findings revealing putative cerebellar roles in cognition, emotion and spatial navigation. These functions are potentially underpinned by the behaviour-dependent formation of functional networks in which the cerebellum forms one node of distributed circuits spanning thalamic, limbic and neocortical regions. However, these views are not universally accepted. Therefore, the over-arching aim of this Research Topic was to provide a forum through which the debate on the role of cerebellar interactions with motor and "non-motor" structures can be pursued in a rigorous manner. In particular, we aimed to bring together findings from the clinical, animal, theoretical and neuroimaging fields.

TRP Channels in Health and Disease

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ISBN: 9783039210824 / 9783039210831 Year: Pages: 266 DOI: 10.3390/books978-3-03921-083-1 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Medicine (General)
Added to DOAB on : 2019-06-26 08:44:07
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Almost 25 years ago, the first mammalian transient receptor potential (TRP) channel was cloned and published. TRP channels now represent an extended family of 28 members fulfilling multiple roles in the living organism. Identified functions include control of body temperature, transmitter release, mineral homeostasis, chemical sensing, and survival mechanisms in a challenging environment. The TRP channel superfamily covers six families: TRPC with C for “canonical”, TRPA with A for “ankyrin”, TRPM with M for “melastatin”, TRPML with ML for “mucolipidin”, TRPP with P for “polycystin”, and TRPV with V for “vanilloid”. Over the last few years, new findings on TRP channels have confirmed their exceptional function as cellular sensors and effectors. This Special Book features a collection of 8 reviews and 7 original articles published in “Cells” summarizing the current state-of-the-art on TRP channel research, with a main focus on TRP channel activation, their physiological and pathophysiological function, and their roles as pharmacological targets for future therapeutic options.

Keywords

ion channel --- TRPC --- small molecules --- calcium --- chemical probes --- TRPV1 --- TRPV2 --- TRPV3 --- TRPV4 --- mucosal epithelium --- ulcerative colitis --- inflammatory bowel disease --- TRPM4 channel --- cardiovascular system --- physiology --- pathophysiology --- TRPC6 --- elementary immunology --- inflammation --- calcium --- sodium --- neutrophils --- lymphocytes --- endothelium --- platelets --- human medulla oblongata --- cuneate nucleus --- dorsal column nuclei --- TRPV1 --- calcitonin gene-related peptide --- substance P --- TRP channels --- calcium signaling --- salivary glands --- xerostomia --- radiation --- inflammation --- transient receptor potential channels --- TRPC3 pharmacology --- channel structure --- lipid mediators --- photochromic ligands --- transient receptor potential --- TRPC3 --- mGluR1 --- GABAB --- EPSC --- Purkinje cell --- cerebellum --- toxicology --- TRP channels --- organ toxicity --- chemicals --- pollutants --- chemosensor --- TRPM7 --- kinase --- inflammation --- lymphocytes --- calcium signalling --- SMAD --- TH17 --- hypersensitivity --- regulatory T cells --- thrombosis --- graft versus host disease --- 2D gel electrophoresis --- AP18 --- HEK293 --- HSP70 --- MALDI-TOF MS(/MS) --- nanoHPLC-ESI MS/MS --- proteomics --- sulfur mustard --- TRPA1 --- TRPC channels --- diacylglycerol --- TRPC4 --- TRPC5 --- NHERF --- TRP channel --- TRPY1 --- Saccharomyces cerevisiae --- calcium --- manganese --- oxidative stress --- ion channels --- overproduction --- production platform --- protein purification --- Saccharomyces cerevisiae --- sensors --- transient receptor potential (TRP) channels --- yeast --- adipose tissue --- bioavailable --- menthol --- topical --- TRPM8 --- n/a

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