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https://www.readbyqxmd.com/read/28943283/step-inhibition-reverses-behavioral-electrophysiologic-and-synaptic-abnormalities-in-fmr1-ko-mice
#1
Manavi Chatterjee, Pradeep K Kurup, Camilla J Lundbye, Anna Karina Hugger Toft, Jeemin Kwon, Jessie Benedict, Marija Kamceva, Tue G Banke, Paul J Lombroso
Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability, with additional symptoms including attention deficit and hyperactivity, anxiety, impulsivity, and repetitive movements or actions. The majority of FXS cases are attributed to a CGG expansion that leads to transcriptional silencing and diminished expression of fragile X mental retardation protein (FMRP). FMRP, an RNA binding protein, regulates the synthesis of dendritically-translated mRNAs by stalling ribosomal translation. Loss of FMRP leads to increased translation of some of these mRNAs, including the CNS-specific tyrosine phosphatase STEP (STriatal-Enriched protein tyrosine Phosphatase)...
September 21, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28931075/excitability-is-increased-in-hippocampal-ca1-pyramidal-cells-of-fmr1-knockout-mice
#2
M Angeles Luque, Pablo Beltran-Matas, M Carmen Marin, Blas Torres, Luis Herrero
Fragile X syndrome (FXS) is caused by a failure of neuronal cells to express the gene encoding the fragile mental retardation protein (FMRP). Clinical features of the syndrome include intellectual disability, learning impairment, hyperactivity, seizures and anxiety. Fmr1 knockout (KO) mice do not express FMRP and, as a result, reproduce some FXS behavioral abnormalities. While intrinsic and synaptic properties of excitatory cells in various part of the brain have been studied in Fmr1 KO mice, a thorough analysis of action potential characteristics and input-output function of CA1 pyramidal cells in this model is lacking...
2017: PloS One
https://www.readbyqxmd.com/read/28913566/adar-rna-editing-in-human-disease-more-to-it-than-meets-the-i
#3
REVIEW
Angela Gallo, Dragana Vukic, David Michalík, Mary A O'Connell, Liam P Keegan
We review the structures and functions of ADARs and their involvements in human diseases. ADAR1 is widely expressed, particularly in the myeloid component of the blood system, and plays a prominent role in promiscuous editing of long dsRNA. Missense mutations that change ADAR1 residues and reduce RNA editing activity cause Aicardi-Goutières Syndrome, a childhood encephalitis and interferonopathy that mimics viral infection and resembles an extreme form of Systemic Lupus Erythmatosus (SLE). In Adar1 mouse mutant models aberrant interferon expression is prevented by eliminating interferon activation signaling from cytoplasmic dsRNA sensors, indicating that unedited cytoplasmic dsRNA drives the immune induction...
September 14, 2017: Human Genetics
https://www.readbyqxmd.com/read/28899012/reply-neuronal-intranuclear-hyaline-inclusion-disease-and-fragile-x-associated-tremor-ataxia-syndrome-a-morphological-and-molecular-dilemma
#4
Jun Sone, Tomohiko Nakamura, Haruki Koike, Masahisa Katsuno, Fumiaki Tanaka, Yasushi Iwasaki, Mari Yoshida, Gen Sobue
No abstract text is available yet for this article.
August 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28899011/neuronal-intranuclear-hyaline-inclusion-disease-and-fragile-x-associated-tremor-ataxia-syndrome-a-morphological-and-molecular-dilemma
#5
Ellen Gelpi, Teresa Botta-Orfila, Laia Bodi, Stefanie Marti, Gabor Kovacs, Oriol Grau-Rivera, Manuel Lozano, Raquel Sánchez-Valle, Esteban Muñoz, Francesc Valldeoriola, Javier Pagonabarraga, Gian-Gaetano Tartaglia, Montserrat Milà
No abstract text is available yet for this article.
August 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28887386/fragile-x-mental-retardation-protein-restricts-small-dye-iontophoresis-entry-into-central-neurons
#6
Tyler Kennedy, Kendal Broadie
Fragile X Mental Retardation Protein (FMRP) loss causes Fragile X syndrome (FXS), a major disorder characterized by autism, intellectual disability, hyperactivity and seizures. FMRP is both an RNA- and channel-binding regulator, with critical roles in neural circuit formation and function. However, it remains unclear how these FMRP activities relate to each other and how dysfunction in their absence underlies FXS neurological symptoms. In testing circuit level defects in the Drosophila FXS model, we discovered a completely unexpected and highly robust neuronal dye iontophoresis phenotype in the well-mapped Giant Fiber (GF) circuit...
September 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28884477/fragile-x-granules-are-a-family-of-axonal-ribonucleoprotein-particles-with-circuit-dependent-protein-composition-and-mrna-cargos
#7
Eunice Chyung, Hannah F LeBlanc, Justin R Fallon, Michael R Akins
Local axonal protein synthesis plays a crucial role in the formation and function of neuronal circuits. Understanding the role of this mechanism in specific circuits requires identifying the protein composition and mRNA cargos of the ribonucleoprotein particles (RNPs) that form the substrate for axonal translation. FXGs (Fragile X granules) are axonal RNPs present in a stereotyped subset of mature axons in the intact brain that contain one or more of the Fragile X related (FXR) proteins (FMRP, FXR2P, and FXR1P) along with mRNA and ribosomes...
September 7, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28822839/decreased-surface-expression-of-the-%C3%AE-subunit-of-the-gabaa-receptor-contributes-to-reduced-tonic-inhibition-in-dentate-granule-cells-in-a-mouse-model-of-fragile-x-syndrome
#8
Nianhui Zhang, Zechun Peng, Xiaoping Tong, A Kerstin Lindemeyer, Yliana Cetina, Christine S Huang, Richard W Olsen, Thomas S Otis, Carolyn R Houser
While numerous changes in the GABA system have been identified in models of Fragile X Syndrome (FXS), alterations in subunits of the GABAA receptors (GABAARs) that mediate tonic inhibition are particularly intriguing. Considering the key role of tonic inhibition in controlling neuronal excitability, reduced tonic inhibition could contribute to FXS-associated disorders such as hyperactivity, hypersensitivity, and increased seizure susceptibility. The current study has focused on the expression and function of the δ subunit of the GABAAR, a major subunit involved in tonic inhibition, in granule cells of the dentate gyrus in the Fmr1 knockout (KO) mouse model of FXS...
November 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28821679/upf1-governs-synaptic-plasticity-through-association-with-a-stau2-rna-granule
#9
Tyson E Graber, Erika Freemantle, Mina Anadolu, Sarah Hébert-Seropian, Robyn MacAdam, Unkyung Shin, Huy-Dung Hoang, Tommy Alain, Jean-Claude Lacaille, Wayne S Sossin
Neuronal mRNAs can be packaged in reversibly stalled polysome granules prior to their transport to distant synaptic locales. Stimulation of synaptic metabotropic glutamate receptors (mGluRs) reactivates translation of these particular mRNAs to produce plasticity-related protein; a phenomenon exhibited during mGluR-mediated long-term depression (mGluR-LTD). This form of plasticity is deregulated in Fragile X Syndrome, a monogenic form of autism in humans, and understanding the stalling and reactivation mechanism could reveal new approaches to therapies...
August 18, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28793261/the-conserved-disease-associated-rna-binding-protein-dnab2-interacts-with-the-fragile-x-protein-ortholog-in-drosophila-neurons
#10
Rick S Bienkowski, Ayan Banerjee, J Christopher Rounds, Jennifer Rha, Omotola F Omotade, Christina Gross, Kevin J Morris, Sara W Leung, ChangHui Pak, Stephanie K Jones, Michael R Santoro, Stephen T Warren, James Q Zheng, Gary J Bassell, Anita H Corbett, Kenneth H Moberg
The Drosophila dNab2 protein is an ortholog of human ZC3H14, a poly(A) RNA binding protein required for intellectual function. dNab2 supports memory and axon projection, but its molecular role in neurons is undefined. Here, we present a network of interactions that links dNab2 to cytoplasmic control of neuronal mRNAs in conjunction with the fragile X protein ortholog dFMRP. dNab2 and dfmr1 interact genetically in control of neurodevelopment and olfactory memory, and their encoded proteins co-localize in puncta within neuronal processes...
August 8, 2017: Cell Reports
https://www.readbyqxmd.com/read/28772121/cell-type-specific-translation-profiling-reveals-a-novel-strategy-for-treating-fragile-x-syndrome
#11
Sophie R Thomson, Sang S Seo, Stephanie A Barnes, Susana R Louros, Melania Muscas, Owen Dando, Caoimhe Kirby, David J A Wyllie, Giles E Hardingham, Peter C Kind, Emily K Osterweil
Excessive mRNA translation downstream of group I metabotropic glutamate receptors (mGlu1/5) is a core pathophysiology of fragile X syndrome (FX); however, the differentially translating mRNAs that contribute to altered neural function are not known. We used translating ribosome affinity purification (TRAP) and RNA-seq to identify mistranslating mRNAs in CA1 pyramidal neurons of the FX mouse model (Fmr1(-/y)) hippocampus, which exhibit exaggerated mGlu1/5-induced long-term synaptic depression (LTD). In these neurons, we find that the Chrm4 transcript encoding muscarinic acetylcholine receptor 4 (M4) is excessively translated, and synthesis of M4 downstream of mGlu5 activation is mimicked and occluded...
August 2, 2017: Neuron
https://www.readbyqxmd.com/read/28764992/impact-on-gaba-systems-in-monogenetic-developmental-cns-disorders-clues-to-symptomatic-treatment
#12
REVIEW
Dietmar Benke, Hanns Möhler
Animal studies of several single-gene disorders demonstrate that reversing the molecular signaling deficits can result in substantial symptomatic improvements in function. Focusing on the ratio of excitation to inhibition as a potential pathophysiological hallmark, seven single-gene developmental CNS disorders are reviewed which are characterized by a striking dysregulation of neuronal inhibition. Deficits in inhibition and excessive inhibition are found. The examples of developmental disorders encompass Neurofibromatosis type 1, Fragile X syndrome, Rett syndrome, Dravet syndrome including autism-like behavior, NONO-mutation-induced intellectual disability, Succinic semialdehyde dehydrogenase deficiency and Congenital nystagmus due to FRMD7 mutations...
July 29, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28756946/fragile-x-mental-retardation-protein-requirements-in-activity-dependent-critical-period-neural-circuit-refinement
#13
Caleb A Doll, Dominic J Vita, Kendal Broadie
Activity-dependent synaptic remodeling occurs during early-use critical periods, when naive juveniles experience sensory input. Fragile X mental retardation protein (FMRP) sculpts synaptic refinement in an activity sensor mechanism based on sensory cues, with FMRP loss causing the most common heritable autism spectrum disorder (ASD), fragile X syndrome (FXS). In the well-mapped Drosophila olfactory circuitry, projection neurons (PNs) relay peripheral sensory information to the central brain mushroom body (MB) learning/memory center...
August 7, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28744893/tonotopic-alterations-in-inhibitory-input-to-the-medial-nucleus-of-the-trapezoid-body-in-a-mouse-model-of-fragile-x-syndrome
#14
Elizabeth A McCullagh, Ernesto Salcedo, Molly M Huntsman, Achim Klug
Hyperexcitability and the imbalance of excitation/inhibition are one of the leading causes of abnormal sensory processing in Fragile X syndrome (FXS). The precise timing and distribution of excitation and inhibition is crucial for auditory processing at the level of the auditory brainstem, which is responsible for sound localization ability. Sound localization is one of the sensory abilities disrupted by loss of the Fragile X Mental Retardation 1 (Fmr1) gene. Using triple immunofluorescence staining we tested whether there were alterations in the number and size of presynaptic structures for the three primary neurotransmitters (glutamate, glycine, and GABA) in the auditory brainstem of Fmr1 knockout mice...
November 1, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28730825/the-implication-of-ampa-receptor-in-synaptic-plasticity-impairment-and-intellectual-disability-in-fragile-x-syndrome
#15
G-R Cheng, X-Y Li, Y-D Xiang, D Liu, S M McClintock, Y Zeng
Fragile X syndrome (FXS) is the most frequently inherited form of intellectual disability and prevalent single-gene cause of autism. A priority of FXS research is to determine the molecular mechanisms underlying the cognitive and social functioning impairments in humans and the FXS mouse model. Glutamate ionotropic alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptors (AMPARs) mediate a majority of fast excitatory neurotransmission in the central nervous system and are critically important for nearly all aspects of brain function, including neuronal development, synaptic plasticity, and learning and memory...
July 18, 2017: Physiological Research
https://www.readbyqxmd.com/read/28699511/striatal-enriched-tyrosine-protein-phosphatase-step-in-the-mechanisms-of-depressive-disorders
#16
Elizabeth Kulikova, Alexander Kulikov
Striatal-enriched tyrosine protein phosphatase (STEP) is expressed mainly in the brain. Its dysregulation is associated with Alzheimer's and Huntington's diseases, schizophrenia, fragile X syndrome, drug abuse and stroke/ischemia. However, an association between STEP and depressive disorders is still obscure. The review discusses the theoretical foundations and experimental facts concerning possible relationship between STEP dysregulation and depression risk. STEP dephosphorylates and inactivates several key neuronal signaling proteins such as extracellular signal-regulating kinase 1 and 2 (ERK1/2), stress activated protein kinases p38, the Src family tyrosine kinases Fyn, Pyk2, NMDA and AMPA glutamate receptors...
July 10, 2017: Current Protein & Peptide Science
https://www.readbyqxmd.com/read/28685837/proteomic-analyses-of-nucleus-laminaris-identified-candidate-targets-of-the-fragile-x-mental-retardation-protein
#17
Hitomi Sakano, Diego A R Zorio, Xiaoyu Wang, Ying S Ting, William S Noble, Michael J MacCoss, Edwin W Rubel, Yuan Wang
The avian nucleus laminaris (NL) is a brainstem nucleus necessary for binaural processing, analogous in structure and function to the mammalian medial superior olive. In chickens (Gallus gallus), NL is a well-studied model system for activity-dependent neural plasticity. Its neurons have bipolar extension of dendrites, which receive segregated inputs from two ears and display rapid and compartment-specific reorganization in response to unilateral changes in auditory input. More recently, fragile X mental retardation protein (FMRP), an RNA-binding protein that regulates local protein translation, has been shown to be enriched in NL dendrites, suggesting its potential role in the structural dynamics of these dendrites...
October 15, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28674175/enhanced-excitatory-connectivity-and-disturbed-sound-processing-in-the-auditory-brainstem-of-fragile-x-mice
#18
Elisabet Garcia-Pino, Nikodemus Gessele, Ursula Koch
Hypersensitivity to sounds is one of the prevalent symptoms in individuals with Fragile X syndrome (FXS). It manifests behaviorally early during development and is often used as a landmark for treatment efficacy. However, the physiological mechanisms and circuit-level alterations underlying this aberrant behavior remain poorly understood. Using the mouse model of FXS (Fmr1 KO), we demonstrate that functional maturation of auditory brainstem synapses is impaired in FXS. Fmr1 KO mice showed a greatly enhanced excitatory synaptic input strength in neurons of the lateral superior olive (LSO), a prominent auditory brainstem nucleus, which integrates ipsilateral excitation and contralateral inhibition to compute interaural level differences...
August 2, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28660769/platelets-as-a-surrogate-disease-model-of-neurodevelopmental-disorders-insights-from-fragile-x-syndrome
#19
David Pellerin, Audrey Lortie, François Corbin
Fragile X Syndrome (FXS) is the most common inherited form of intellectual disability and the leading monogenic cause of autism spectrum disorders (ASD). Despite a large number of therapeutics developed in past years, there is currently no targeted treatment approved for FXS. In fact, translation of the positive and very promising preclinical findings from animal models to human subjects has so far fallen short owing in part to the low predictive validity of the Fmr1 ko mouse, an overly simplistic model of the complex human disease...
June 29, 2017: Platelets
https://www.readbyqxmd.com/read/28649315/effects-of-a-social-stimulus-on-gene-expression-in-a-mouse-model-of-fragile-x-syndrome
#20
Tiffany D Rogers, Allison M J Anacker, Travis M Kerr, C Gunnar Forsberg, Jing Wang, Bing Zhang, Jeremy Veenstra-VanderWeele
BACKGROUND: People with fragile X syndrome (FXS) often have deficits in social behavior, and a substantial portion meet criteria for autism spectrum disorder. Though the genetic cause of FXS is known to be due to the silencing of FMR1, and the Fmr1 null mouse model representing this lesion has been extensively studied, the contributions of this gene and its protein product, FMRP, to social behavior are not well understood. METHODS: Fmr1 null mice and wildtype littermates were exposed to a social or non-social stimulus...
2017: Molecular Autism
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