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https://www.readbyqxmd.com/read/29134514/expression-of-bc1-impairs-spatial-learning-and-memory-in-alzheimer-s-disease-via-app-translation
#1
Tongmei Zhang, Pei Pang, Zemin Fang, Yu Guo, Hao Li, Xinyan Li, Tian Tian, Xin Yang, Wenting Chen, Shu Shu, Na Tang, Jianhua Wu, Houze Zhu, Lei Pei, Dan Liu, Qing Tian, Jian Wang, Lin Wang, Ling-Qiang Zhu, Youming Lu
Aggregation of amyloid-β (Aβ) peptides, which are the cleavage products of amyloid precursor protein (APP), is a major pathological hallmark in the brain of Alzheimer's disease (AD). Now, we know little about the roles of APP translation in the disease progression of AD. Here, we show that BC1, a long noncoding RNA (lncRNA), is expressed in the brain of AD mice. BC1 induces APP mRNA translation via association with a fragile X syndrome protein (FMRP). Inhibition of BC1 or BC1-FMRP association in AD mice blocks aggregation of Aβ in the brain and protects against the spatial learning and memory deficits...
November 13, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/29128904/pharmacological-rescue-of-hippocampal-fear-learning-deficits-in-fragile-x-syndrome
#2
Luis A Martinez, Maria Victoria Tejada-Simon
Fragile X Syndrome (FXS) is the leading cause of autism spectrum disorder and intellectual disability and results from loss of Fragile X mental retardation protein (FMRP). In neurons, FMRP controls the translation of synaptic plasticity proteins that are implicated in learning and memory. FMRP also regulates development- and experience-dependent actin cytoskeleton remodeling within dendritic spines through the small Rho GTPase Rac1. Modulation of Rac1 activity is critical during synaptic plasticity as well as learning and memory...
November 11, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/29114039/neuronal-activity-drives-fmrp-and-hspg-dependent-matrix-metalloproteinase-function-required-for-rapid-synaptogenesis
#3
Mary L Dear, Jarrod Shilts, Kendal Broadie
Matrix metalloproteinase (MMP) functions modulate synapse formation and activity-dependent plasticity. Aberrant MMP activity is implicated in fragile X syndrome (FXS), a disease caused by the loss of the RNA-binding protein FMRP and characterized by neurological dysfunction and intellectual disability. Gene expression studies in Drosophila suggest that Mmps cooperate with the heparan sulfate proteoglycan (HSPG) glypican co-receptor Dally-like protein (Dlp) to restrict trans-synaptic Wnt signaling and that synaptogenic defects in the fly model of FXS are alleviated by either inhibition of Mmp or genetic reduction of Dlp...
November 7, 2017: Science Signaling
https://www.readbyqxmd.com/read/29114038/aberrant-rac1-cofilin-signaling-mediates-defects-in-dendritic-spines-synaptic-function-and-sensory-perception-in-fragile-x-syndrome
#4
Alexander Pyronneau, Qionger He, Jee-Yeon Hwang, Morgan Porch, Anis Contractor, R Suzanne Zukin
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disabilities and a leading cause of autism. FXS is caused by a trinucleotide expansion in the gene FMR1 on the X chromosome. The neuroanatomical hallmark of FXS is an overabundance of immature dendritic spines, a factor thought to underlie synaptic dysfunction and impaired cognition. We showed that aberrantly increased activity of the Rho GTPase Rac1 inhibited the actin-depolymerizing factor cofilin, a major determinant of dendritic spine structure, and caused disease-associated spine abnormalities in the somatosensory cortex of FXS model mice...
November 7, 2017: Science Signaling
https://www.readbyqxmd.com/read/29104533/cell-type-specific-mrna-dysregulation-in-hippocampal-ca1-pyramidal-neurons-of-the-fragile-x-syndrome-mouse-model
#5
Laura Ceolin, Nathalie Bouquier, Jihane Vitre-Boubaker, Stéphanie Rialle, Dany Severac, Emmanuel Valjent, Julie Perroy, Emma Puighermanal
Fragile X syndrome (FXS) is a genetic disorder due to the silencing of the Fmr1 gene, causing intellectual disability, seizures, hyperactivity, and social anxiety. All these symptoms result from the loss of expression of the RNA binding protein fragile X mental retardation protein (FMRP), which alters the neurodevelopmental program to abnormal wiring of specific circuits. Aberrant mRNAs translation associated with the loss of Fmr1 product is widely suspected to be in part the cause of FXS. However, precise gene expression changes involved in this disorder have yet to be defined...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29096020/elevated-progranulin-contributes-to-synaptic-and-learning-deficit-due-to-loss-of-fragile-x-mental-retardation-protein
#6
Kun Zhang, Yu-Jiao Li, Yanyan Guo, Kai-Yin Zheng, Qi Yang, Le Yang, Xin-Shang Wang, Qian Song, Tao Chen, Min Zhuo, Ming-Gao Zhao
Fragile X syndrome is an inheritable form of intellectual disability caused by loss of fragile X mental retardation protein (FMRP, encoded by the FMR1 gene). Absence of FMRP caused overexpression of progranulin (PGRN, encoded by GRN), a putative tumour necrosis factor receptor ligand. In the present study, we found that progranulin mRNA and protein were upregulated in the medial prefrontal cortex of Fmr1 knock-out mice. In Fmr1 knock-out mice, elevated progranulin caused insufficient dendritic spine pruning and late-phase long-term potentiation in the medial prefrontal cortex of Fmr1 knock-out mice...
October 31, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29078722/local-translation-of-the-down-syndrome-cell-adhesion-molecule-dscam-mrna-in-the-vertebrate-central-nervous-system
#7
María Luz Montesinos
Local translation of synaptic mRNAs is an important process related to key aspects of central nervous system development and physiology, including dendritogenesis, axonal growth cone morphology and guidance and synaptic plasticity. Accordingly, local translation is compromised in several intellectual disabilities, including Fragile X syndrome, tuberous sclerosis and Down syndrome. Down Syndrome Cell Adhesion Molecule (DSCAM) is a gene with ascribed functions in neuronal wiring that belongs to the Down Syndrome Critical Region (DSCR) of chromosome 21...
October 27, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29062097/altered-surface-mglur5-dynamics-provoke-synaptic-nmdar-dysfunction-and-cognitive-defects-in-fmr1-knockout-mice
#8
Elisabetta Aloisi, Katy Le Corf, Julien Dupuis, Pei Zhang, Melanie Ginger, Virginie Labrousse, Michela Spatuzza, Matthias Georg Haberl, Lara Costa, Ryuichi Shigemoto, Anke Tappe-Theodor, Filippo Drago, Pier Vincenzo Piazza, Christophe Mulle, Laurent Groc, Lucia Ciranna, Maria Vincenza Catania, Andreas Frick
Metabotropic glutamate receptor subtype 5 (mGluR5) is crucially implicated in the pathophysiology of Fragile X Syndrome (FXS); however, its dysfunction at the sub-cellular level, and related synaptic and cognitive phenotypes are unexplored. Here, we probed the consequences of mGluR5/Homer scaffold disruption for mGluR5 cell-surface mobility, synaptic N-methyl-D-aspartate receptor (NMDAR) function, and behavioral phenotypes in the second-generation Fmr1 knockout (KO) mouse. Using single-molecule tracking, we found that mGluR5 was significantly more mobile at synapses in hippocampal Fmr1 KO neurons, causing an increased synaptic surface co-clustering of mGluR5 and NMDAR...
October 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/29040407/genetic-reduction-of-matrix-metalloproteinase-9-promotes-formation-of-perineuronal-nets-around-parvalbumin-expressing-interneurons-and-normalizes-auditory-cortex-responses-in-developing-fmr1-knock-out-mice
#9
Teresa H Wen, Sonia Afroz, Sarah M Reinhard, Arnold R Palacios, Kendal Tapia, Devin K Binder, Khaleel A Razak, Iryna M Ethell
Abnormal sensory responses associated with Fragile X Syndrome (FXS) and autism spectrum disorders include hypersensitivity and impaired habituation to repeated stimuli. Similar sensory deficits are also observed in adult Fmr1 knock-out (KO) mice and are reversed by genetic deletion of Matrix Metalloproteinase-9 (MMP-9) through yet unknown mechanisms. Here we present new evidence that impaired development of parvalbumin (PV)-expressing inhibitory interneurons may underlie hyper-responsiveness in auditory cortex of Fmr1 KO mice via MMP-9-dependent regulation of perineuronal nets (PNNs)...
October 13, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29038238/delayed-maturation-of-fast-spiking-interneurons-is-rectified-by-activation-of-the-trkb-receptor-in-the-mouse-model-of-fragile-x-syndrome
#10
Toshihiro Nomura, Timothy F Musial, John J Marshall, Yiwen Zhu, Christine L Remmers, Jian Xu, Daniel A Nicholson, Anis Contractor
Fragile X syndrome (FXS) is a neurodevelopmental disorder that is a leading cause of inherited intellectual disability, and the most common known cause of autism spectrum disorder (ASD). FXS is broadly characterized by sensory hypersensitivity and several developmental alterations in synaptic and circuit function have been uncovered in the sensory cortex of the mouse model of FXS (Fmr1 KO). GABA mediated neurotransmission and fast-spiking (FS) GABAergic interneurons are central to cortical circuit development in the neonate...
October 16, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29037228/neuroepigenetic-mechanisms-in-disease
#11
REVIEW
Michael A Christopher, Stephanie M Kyle, David J Katz
Epigenetics allows for the inheritance of information in cellular lineages during differentiation, independent of changes to the underlying genetic sequence. This raises the question of whether epigenetic mechanisms also function in post-mitotic neurons. During the long life of the neuron, fluctuations in gene expression allow the cell to pass through stages of differentiation, modulate synaptic activity in response to environmental cues, and fortify the cell through age-related neuroprotective pathways. Emerging evidence suggests that epigenetic mechanisms such as DNA methylation and histone modification permit these dynamic changes in gene expression throughout the life of a neuron...
October 16, 2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/28960184/fragile-x-syndrome
#12
REVIEW
Randi J Hagerman, Elizabeth Berry-Kravis, Heather Cody Hazlett, Donald B Bailey, Herve Moine, R Frank Kooy, Flora Tassone, Ilse Gantois, Nahum Sonenberg, Jean Louis Mandel, Paul J Hagerman
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations, including hyperactivity, impulsivity and anxiety, in addition to poor language development and seizures. FXS is a trinucleotide repeat disorder, in which >200 repeats of the CGG motif in FMR1 leads to silencing of the gene and the consequent loss of its product, fragile X mental retardation 1 protein (FMRP). FMRP has a central role in gene expression and regulates the translation of potentially hundreds of mRNAs, many of which are involved in the development and maintenance of neuronal synaptic connections...
September 29, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28943283/step-inhibition-reverses-behavioral-electrophysiologic-and-synaptic-abnormalities-in-fmr1-ko-mice
#13
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
#14
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
#15
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 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
#16
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
#17
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
#18
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...
October 11, 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
#19
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
#20
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
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