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https://www.readbyqxmd.com/read/29446202/conditional-deletion-of-cadherin-13-perturbs-golgi-cells-and-disrupts-social-and-cognitive-behaviors
#1
Martesa Tantra, Lanboling Guo, Jinsook Kim, Norliyana Zainolabidin, George J Augustine, Volker Eulenburg, Albert I Chen
Inhibitory interneurons mediate the gating of synaptic transmission and modulate the activities of neural circuits. Disruption of the function of inhibitory networks in the forebrain is linked to impairment of social and cognitive behaviors, but the involvement of inhibitory interneurons in the cerebellum has not been assessed. We found that Cadherin 13 (Cdh13), a gene implicated in autism spectrum disorder and attention-deficit hyperactivity disorder, is specifically expressed in Golgi cells within the cerebelluar cortex...
February 15, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29375819/inhibitory-control-of-the-excitatory-inhibitory-balance-in-psychiatric-disorders
#2
REVIEW
Martijn Selten, Hans van Bokhoven, Nael Nadif Kasri
Neuronal networks consist of different types of neurons that all play their own role in order to maintain proper network function. The two main types of neurons segregate in excitatory and inhibitory neurons, which together regulate the flow of information through the network. It has been proposed that changes in the relative strength in these two opposing forces underlie the symptoms observed in psychiatric disorders, including autism and schizophrenia. Here, we review the role of alterations to the function of the inhibitory system as a cause of psychiatric disorders...
2018: F1000Research
https://www.readbyqxmd.com/read/29338461/mtor-dysregulation-and-tuberous-sclerosis-related-epilepsy
#3
Paolo Curatolo, Romina Moavero, Jackelien van Scheppingen, Eleonora Aronica
The mammalian target of rapamycin (mTOR) pathway has emerged as a key player for proper neural network development, and it is involved in epileptogenesis triggered by both genetic or acquired factors. Areas covered. The robust mTOR signaling deregulation observed in a large spectrum of epileptogenic developmental pathologies, such as focal cortical dysplasias and tuberous sclerosis complex (TSC), has been linked to germline and somatic mutations in mTOR pathway regulatory genes, increasing the spectrum of 'mTORopathies'...
January 27, 2018: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29317598/enriched-expression-of-genes-associated-with-autism-spectrum-disorders-in-human-inhibitory-neurons
#4
Ping Wang, Dejian Zhao, Herbert M Lachman, Deyou Zheng
Autism spectrum disorder (ASD) is highly heritable but genetically heterogeneous. The affected neural circuits and cell types remain unclear and may vary at different developmental stages. By analyzing multiple sets of human single cell transcriptome profiles, we found that ASD candidates showed relatively enriched gene expression in neurons, especially in inhibitory neurons. ASD candidates were also more likely to be the hubs of the co-expression gene module that is highly expressed in inhibitory neurons, a feature not detected for excitatory neurons...
January 10, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29218903/coalitional-game-theory-as-a-promising-approach-to-identify-candidate-autism-genes
#5
Anika Gupta, Min Woo Sun, Kelley Marie Paskov, Nate Tyler Stockham, Jae-Yoon Jung, Dennis Paul Wall
Despite mounting evidence for the strong role of genetics in the phenotypic manifestation of Autism Spectrum Disorder (ASD), the specific genes responsible for the variable forms of ASD remain undefined. ASD may be best explained by a combinatorial genetic model with varying epistatic interactions across many small effect mutations. Coalitional or cooperative game theory is a technique that studies the combined effects of groups of players, known as coalitions, seeking to identify players who tend to improve the performance--the relationship to a specific disease phenotype--of any coalition they join...
2018: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/29161772/microarray-analysis-of-gene-expression-in-the-cyclooxygenase-cox-knockout-mice-a-connection-to-autism-spectrum-disorder
#6
Ravneet Rai-Bhogal, Eizaaz Ahmad, Hongyan Li, Dorota A Crawford
The cellular and molecular events that take place during brain development play an important role in governing function of the mature brain. Lipid signalling molecules such as prostaglandin E2 (PGE2 ) play an important role in healthy brain development. Abnormalities along the COX/PGE2 signalling pathway due to genetic or environmental causes have been linked to Autism Spectrum Disorders (ASDs). This study aims to evaluate the effect of altered COX/PGE2 signalling on development and function of the prenatal brain using male mice lacking cyclooxygenase-1 and -2 (COX-1(-/-) and COX-2(-/-) ) as potential model systems of ASD...
November 21, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/29146941/developmental-excitatory-to-inhibitory-gaba-polarity-switch-is-disrupted-in-22q11-2-deletion-syndrome-a-potential-target-for-clinical-therapeutics
#7
Hayder Amin, Federica Marinaro, Davide De Pietri Tonelli, Luca Berdondini
Individuals with 22q11.2 microdeletion syndrome (22q11.2 DS) show cognitive and behavioral dysfunctions, developmental delays in childhood and risk of developing schizophrenia and autism. Despite extensive previous studies in adult animal models, a possible embryonic root of this syndrome has not been determined. Here, in neurons from a 22q11.2 DS mouse model (Lgdel (+/-)), we found embryonic-premature alterations in the neuronal chloride cotransporters indicated by dysregulated NKCC1 and KCC2 protein expression levels...
November 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29100073/synaptic-neurexin-complexes-a-molecular-code-for-the-logic-of-neural-circuits
#8
REVIEW
Thomas C Südhof
Synapses are specialized junctions between neurons in brain that transmit and compute information, thereby connecting neurons into millions of overlapping and interdigitated neural circuits. Here, we posit that the establishment, properties, and dynamics of synapses are governed by a molecular logic that is controlled by diverse trans-synaptic signaling molecules. Neurexins, expressed in thousands of alternatively spliced isoforms, are central components of this dynamic code. Presynaptic neurexins regulate synapse properties via differential binding to multifarious postsynaptic ligands, such as neuroligins, cerebellin/GluD complexes, and latrophilins, thereby shaping the input/output relations of their resident neural circuits...
November 2, 2017: Cell
https://www.readbyqxmd.com/read/29069077/functional-convergence-of-histone-methyltransferases-ehmt1-and-kmt2c-involved-in-intellectual-disability-and-autism-spectrum-disorder
#9
Tom S Koemans, Tjitske Kleefstra, Melissa C Chubak, Max H Stone, Margot R F Reijnders, Sonja de Munnik, Marjolein H Willemsen, Michaela Fenckova, Connie T R M Stumpel, Levinus A Bok, Margarita Sifuentes Saenz, Kyna A Byerly, Linda B Baughn, Alexander P A Stegmann, Rolph Pfundt, Huiqing Zhou, Hans van Bokhoven, Annette Schenck, Jamie M Kramer
Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (ASD), characteristic facial dysmorphisms, and other variable clinical features. In addition to EHMT1 mutations, de novo variants were reported in four additional genes (MBD5, SMARCB1, NR1I3, and KMT2C), in single individuals with clinical characteristics overlapping Kleefstra syndrome. Here, we present a novel cohort of five patients with de novo loss of function mutations affecting the histone methyltransferase KMT2C...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29062978/interneuronopathies-and-their-role-in-early-life-epilepsies-and-neurodevelopmental-disorders
#10
Anna-Maria Katsarou, Solomon L Moshé, Aristea S Galanopoulou
GABAergic interneurons control the neural circuitry and network activity in the brain. The advances in genetics have identified genes that control the development, maturation and integration of GABAergic interneurons and implicated them in the pathogenesis of epileptic encephalopathies or neurodevelopmental disorders. For example, mutations of the Aristaless-Related homeobox X-linked gene (ARX) may result in defective GABAergic interneuronal migration in infants with epileptic encephalopathies like West syndrome (WS), Ohtahara syndrome or X-linked lissencephaly with abnormal genitalia (XLAG)...
September 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29038237/the-gain-of-function-integrin-%C3%AE-3-pro33-variant-alters-the-serotonin-system-in-the-mouse-brain
#11
Michael R Dohn, Christopher G Kooker, Lisa Bastarache, Tammy Jessen, Capria Rinaldi, Seth Varney, Matthew D Mazalouskas, Hope Pan, Kendra H Oliver, Digna R Velez Edwards, James S Sutcliffe, Joshua C Denny, Ana M D Carneiro
Engagement of integrins by the extracellular matrix initiates signaling cascades that drive a variety of cellular functions, including neuronal migration and axonal pathfinding in the brain. Multiple lines of evidence link the ITGB3 gene encoding the integrin β3 subunit with the serotonin (5-HT) system, likely via its modulation of the 5-HT transporter (SERT). The ITGB3 coding polymorphism Leu33Pro (rs5918, Pl(A2)) produces hyperactive αvβ3 receptors that influence whole blood 5-HT levels and may influence risk for autism spectrum disorder (ASD)...
October 16, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29028941/dysregulation-of-cortical-neuron-dna-methylation-profile-in-autism-spectrum-disorder
#12
Stefano Nardone, Dev Sharan Sams, Antonino Zito, Eli Reuveni, Evan Elliott
Autism Spectrum Disorder (ASD) is a complex neuropsychiatric syndrome whose etiology includes genetic and environmental components. Since epigenetic marks are sensitive to environmental insult, they may be involved in the development of ASD. Initial brain studies have suggested a dysregulation of epigenetic marks in ASD. However, due to cellular heterogeneity in the brain, these studies have not determined if there is a true change in the neuronal epigenetic signature. Here, we report a genome-wide methylation study on fluorescence-activated cell sorting-sorted neuronal nuclei from the frontal cortex of 16 male ASD and 15 male control subjects...
December 1, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28993790/network-diffusion-based-prioritization-of-autism-risk-genes-identifies-significantly-connected-gene-modules
#13
Ettore Mosca, Matteo Bersanelli, Matteo Gnocchi, Marco Moscatelli, Gastone Castellani, Luciano Milanesi, Alessandra Mezzelani
Autism spectrum disorder (ASD) is marked by a strong genetic heterogeneity, which is underlined by the low overlap between ASD risk gene lists proposed in different studies. In this context, molecular networks can be used to analyze the results of several genome-wide studies in order to underline those network regions harboring genetic variations associated with ASD, the so-called "disease modules." In this work, we used a recent network diffusion-based approach to jointly analyze multiple ASD risk gene lists...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28975140/patient-derived-hipsc-neurons-with-heterozygous-cntnap2-deletions-display-altered-neuronal-gene-expression-and-network-activity
#14
Erin Flaherty, Rania M Deranieh, Elena Artimovich, Inkyu S Lee, Arthur J Siegel, Deborah L Levy, Michael W Nestor, Kristen J Brennand
Variants in CNTNAP2, a member of the neurexin family of genes that function as cell adhesion molecules, have been associated with multiple neuropsychiatric conditions such as schizophrenia, autism spectrum disorder and intellectual disability; animal studies indicate a role for CNTNAP2 in axon guidance, dendritic arborization and synaptogenesis. We previously reprogrammed fibroblasts from a family trio consisting of two carriers of heterozygous intragenic CNTNAP2 deletions into human induced pluripotent stem cells (hiPSCs) and described decreased migration in the neural progenitor cells (NPCs) differentiated from the affected CNTNAP2 carrier in this trio...
2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28972157/transcriptome-analysis-reveals-determinant-stages-controlling-human-embryonic-stem-cell-commitment-to-neuronal-cells
#15
Yuanyuan Li, Ran Wang, Nan Qiao, Guangdun Peng, Ke Zhang, Ke Tang, Jing-Dong J Han, Naihe Jing
Proper neural commitment is essential for ensuring the appropriate development of the human brain and for preventing neurodevelopmental diseases such as autism spectrum disorders, schizophrenia, and intellectual disorders. However, the molecular mechanisms underlying the neural commitment in humans remain elusive. Here, we report the establishment of a neural differentiation system based on human embryonic stem cells (hESCs) and on comprehensive RNA-Seq analysis of transcriptome dynamics during early hESC differentiation...
September 26, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28970473/patient-derived-hipsc-neurons-with-heterozygous-cntnap2-deletions-display-altered-neuronal-gene-expression-and-network-activity
#16
Erin Flaherty, Rania M Deranieh, Elena Artimovich, Inkyu S Lee, Arthur J Siegel, Deborah L Levy, Michael W Nestor, Kristen J Brennand
Variants in CNTNAP2, a member of the neurexin family of genes that function as cell adhesion molecules, have been associated with multiple neuropsychiatric conditions such as schizophrenia, autism spectrum disorder and intellectual disability; animal studies indicate a role for CNTNAP2 in axon guidance, dendritic arborization and synaptogenesis. We previously reprogrammed fibroblasts from a family trio consisting of two carriers of heterozygous intragenic CNTNAP2 deletions into human induced pluripotent stem cells (hiPSCs) and described decreased migration in the neural progenitor cells (NPCs) differentiated from the affected CNTNAP2 carrier in this trio...
October 2, 2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28968701/interactive-network-visualization-in-jupyter-notebooks-visjs2jupyter
#17
Sara Brin Rosenthal, Julia Len, Mikayla Webster, Aaron Gary, Amanda Birmingham, Kathleen M Fisch
Motivation: Network biology is widely used to elucidate mechanisms of disease and biological processes. The ability to interact with biological networks is important for hypothesis generation and to give researchers an intuitive understanding of the data. We present visJS2jupyter, a tool designed to embed interactive networks in Jupyter notebooks to streamline network analysis and to promote reproducible research. Results: The tool provides functions for performing and visualizing useful network operations in biology, including network overlap, network propagation around a focal set of genes, and co-localization of two sets of seed genes...
September 14, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28955198/dysregulation-of-alternative-poly-adenylation-as-a-potential-player-in-autism-spectrum-disorder
#18
Krzysztof J Szkop, Peter I C Cooke, Joanne A Humphries, Viktoria Kalna, David S Moss, Eugene F Schuster, Irene Nobeli
We present here the hypothesis that alternative poly-adenylation (APA) is dysregulated in the brains of individuals affected by Autism Spectrum Disorder (ASD), due to disruptions in the calcium signaling networks. APA, the process of selecting different poly-adenylation sites on the same gene, yielding transcripts with different-length 3' untranslated regions (UTRs), has been documented in different tissues, stages of development and pathologic conditions. Differential use of poly-adenylation sites has been shown to regulate the function, stability, localization and translation efficiency of target RNAs...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28925810/ube3a-mediated-regulation-of-imprinted-genes-and-epigenome-wide-marks-in-human-neurons
#19
S Jesse Lopez, Keith Dunaway, M Saharul Islam, Charles Mordaunt, Annie Vogel Ciernia, Makiko Meguro-Horike, Shin-Ichi Horike, David J Segal, Janine M LaSalle
The dysregulation of genes in neurodevelopmental disorders that lead to social and cognitive phenotypes is a complex, multilayered process involving both genetics and epigenetics. Parent-of-origin effects of deletion and duplication of the 15q11-q13 locus leading to Angelman, Prader-Willi, and Dup15q syndromes are due to imprinted genes, including UBE3A, which is maternally expressed exclusively in neurons. UBE3A encodes a ubiquitin E3 ligase protein with multiple downstream targets, including RING1B, which in turn monoubiquitinates histone variant H2A...
2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28852712/further-investigations-of-the-w-test-for-pairwise-epistasis-testing
#20
Richard Howey, Heather J Cordell
Background: In a recent paper, a novel W-test for pairwise epistasis testing was proposed that appeared, in computer simulations, to have higher power than competing alternatives. Application to genome-wide bipolar data detected significant epistasis between SNPs in genes of relevant biological function. Network analysis indicated that the implicated genes formed two separate interaction networks, each containing genes highly related to autism and neurodegenerative disorders. Methods: Here we investigate further the properties and performance of the W-test via theoretical evaluation, computer simulations and application to real data...
2017: Wellcome Open Research
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