Fmr1

Summary

Gene Symbol: Fmr1
Description: fragile X mental retardation syndrome 1
Alias: FMRP, Fmr-1, synaptic functional regulator FMR1, fragile X mental retardation protein 1 homolog
Species: mouse
Products:     Fmr1

Top Publications

  1. Chen Y, Tassone F, Berman R, Hagerman P, Hagerman R, Willemsen R, et al. Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet. 2010;19:196-208 pubmed publisher
    Premutation CGG repeat expansions (55-200 CGG repeats; preCGG) within the fragile X mental retardation 1 (FMR1) gene give rise to the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), primary ovarian ..
  2. Darnell J, Fraser C, Mostovetsky O, Stefani G, Jones T, Eddy S, et al. Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes. Genes Dev. 2005;19:903-18 pubmed
    ..retardation is caused by loss of function of a single gene encoding the Fragile-X mental retardation protein, FMRP, an RNA-binding protein that harbors two KH-type and one RGG-type RNA-binding domains...
  3. Liao L, Park S, Xu T, Vanderklish P, Yates J. Quantitative proteomic analysis of primary neurons reveals diverse changes in synaptic protein content in fmr1 knockout mice. Proc Natl Acad Sci U S A. 2008;105:15281-6 pubmed publisher
    ..The encoded protein, FMRP, regulates mRNA translation in neuronal dendrites, and it is thought that changes in translation-dependent forms of ..
  4. Musumeci S, Calabrese G, Bonaccorso C, D Antoni S, Brouwer J, Bakker C, et al. Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes. Exp Neurol. 2007;203:233-40 pubmed
    The Fmr1 knockout (KO) mouse is characterized by an increased audiogenic seizure (AGS) susceptibility and is considered a good animal model for epilepsy and seizures in the human fragile-X (FRAX) syndrome...
  5. Irwin S, Idupulapati M, Gilbert M, Harris J, Chakravarti A, Rogers E, et al. Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice. Am J Med Genet. 2002;111:140-6 pubmed
    ..They also support the validity of these mice as a model of fragile-X syndrome. ..
  6. Sung Y, Conti J, Currie J, Brown W, Denman R. RNAs that interact with the fragile X syndrome RNA binding protein FMRP. Biochem Biophys Res Commun. 2000;275:973-80 pubmed
    ..Nine candidate RNAs were isolated; five RNAs, including FMR1 mRNA, encoded known proteins. Four others were novel...
  7. Pfeiffer B, Huber K. Fragile X mental retardation protein induces synapse loss through acute postsynaptic translational regulation. J Neurosci. 2007;27:3120-30 pubmed
    ..Fragile X syndrome is caused by loss-of-function mutations in Fragile X mental retardation protein (FMRP), an RNA-binding protein that regulates protein synthesis in vivo...
  8. Min W, Yuskaitis C, Yan Q, Sikorski C, Chen S, Jope R, et al. Elevated glycogen synthase kinase-3 activity in Fragile X mice: key metabolic regulator with evidence for treatment potential. Neuropharmacology. 2009;56:463-72 pubmed publisher
    ..These findings raise the possibility that GSK3 is a fundamental and central component of FXS pathology, with a substantial treatment potential. ..
  9. Pacey L, Heximer S, Hampson D. Increased GABA(B) receptor-mediated signaling reduces the susceptibility of fragile X knockout mice to audiogenic seizures. Mol Pharmacol. 2009;76:18-24 pubmed publisher
    Mice lacking the gene encoding fragile X mental retardation protein (FMR1) are susceptible to audiogenic seizures, and antagonists of the group I metabotropic glutamate receptors (mGluRs) have been shown to block seizures in FMR1 knockout ..

More Information

Publications103 found, 100 shown here

  1. Deng P, Sojka D, Klyachko V. Abnormal presynaptic short-term plasticity and information processing in a mouse model of fragile X syndrome. J Neurosci. 2011;31:10971-82 pubmed publisher
    ..Here we report marked presynaptic abnormalities at excitatory hippocampal synapses in Fmr1 knock-out (KO) mice leading to defects in STP and information processing...
  2. Sidhu H, Dansie L, Hickmott P, Ethell D, Ethell I. Genetic removal of matrix metalloproteinase 9 rescues the symptoms of fragile X syndrome in a mouse model. J Neurosci. 2014;34:9867-79 pubmed publisher
    b>Fmr1 knock-out (ko) mice display key features of fragile X syndrome (FXS), including delayed dendritic spine maturation and FXS-associated behaviors, such as poor socialization, obsessive-compulsive behavior, and hyperactivity...
  3. Aschrafi A, Cunningham B, Edelman G, Vanderklish P. The fragile X mental retardation protein and group I metabotropic glutamate receptors regulate levels of mRNA granules in brain. Proc Natl Acad Sci U S A. 2005;102:2180-5 pubmed
    Fragile X syndrome results from the transcriptional silencing of a gene, Fmr1, that codes for an mRNA-binding protein (fragile X mental retardation protein, FMRP) present in neuronal dendrites...
  4. Spencer C, Alekseyenko O, Serysheva E, Yuva Paylor L, Paylor R. Altered anxiety-related and social behaviors in the Fmr1 knockout mouse model of fragile X syndrome. Genes Brain Behav. 2005;4:420-30 pubmed
    The loss of fragile X mental retardation (FMR1) gene function causes fragile X syndrome (FXS), a common mental retardation syndrome. Anxiety and abnormal social behaviors are prominent features of FXS in humans...
  5. Bilousova T, Dansie L, Ngo M, Aye J, Charles J, Ethell D, et al. Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model. J Med Genet. 2009;46:94-102 pubmed publisher
    ..Subjects with FXS and fragile X mental retardation gene knock out (Fmr1 KO) mice, an animal model for FXS, have been shown to exhibit defects in dendritic spine maturation that may ..
  6. Brown M, Kronengold J, Gazula V, Chen Y, Strumbos J, Sigworth F, et al. Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack. Nat Neurosci. 2010;13:819-21 pubmed publisher
    In humans, the absence of Fragile X mental retardation protein (FMRP), an RNA-binding protein, results in Fragile X syndrome, the most common inherited form of intellectual disability...
  7. Bhattacharya A, Kaphzan H, Alvarez Dieppa A, Murphy J, Pierre P, Klann E. Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice. Neuron. 2012;76:325-37 pubmed publisher
    ..Our results support the model that dysregulated protein synthesis is the key causal factor in FXS and that restoration of normal translation can stabilize peripheral and neurological function in FXS. ..
  8. Patel A, Loerwald K, Huber K, Gibson J. Postsynaptic FMRP promotes the pruning of cell-to-cell connections among pyramidal neurons in the L5A neocortical network. J Neurosci. 2014;34:3413-8 pubmed publisher
    ..Over the same interval in the FXS model mouse, the Fmr1 knock-out (KO), connection frequency does not decrease...
  9. Miyashiro K, Beckel Mitchener A, Purk T, Becker K, Barret T, Liu L, et al. RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice. Neuron. 2003;37:417-31 pubmed
    The Fragile X mental retardation-1 (Fmr1) gene encodes a multifunctional protein, FMRP, with intrinsic RNA binding activity...
  10. Weng N, Weiler I, Sumis A, Berry Kravis E, Greenough W. Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:1253-7 pubmed publisher
    Lack of production of the Fragile X Mental Retardation Protein (FMRP) leads to changes in dendritic morphology and resultant cognitive and behavioral manifestations characteristic of individuals with Fragile X syndrome (FXS)...
  11. Dictenberg J, Swanger S, Antar L, Singer R, Bassell G. A direct role for FMRP in activity-dependent dendritic mRNA transport links filopodial-spine morphogenesis to fragile X syndrome. Dev Cell. 2008;14:926-39 pubmed publisher
    ..We report a function for the fragile X mental retardation protein (FMRP) in the rapid, activity-regulated transport of mRNAs important for synaptogenesis and plasticity...
  12. Edbauer D, Neilson J, Foster K, Wang C, Seeburg D, Batterton M, et al. Regulation of synaptic structure and function by FMRP-associated microRNAs miR-125b and miR-132. Neuron. 2010;65:373-84 pubmed publisher
    ..The miRNA machinery interacts with fragile X mental retardation protein (FMRP), which functions as translational repressor...
  13. Stefani G, Fraser C, Darnell J, Darnell R. Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells. J Neurosci. 2004;24:7272-6 pubmed
    Fragile X mental retardation protein (FMRP) is an RNA binding protein encoded by the gene FMR1, whose expression is impaired in patients with fragile X mental retardation...
  14. Mines M, Yuskaitis C, King M, Beurel E, Jope R. GSK3 influences social preference and anxiety-related behaviors during social interaction in a mouse model of fragile X syndrome and autism. PLoS ONE. 2010;5:e9706 pubmed publisher
    ..Mice with deletion of the fragile X mental retardation 1 (Fmr1) gene are used to model autism because loss of Fmr1 gene function causes Fragile X Syndrome (FXS) and many people ..
  15. Collins S, Bray S, Suhl J, Cutler D, Coffee B, Zwick M, et al. Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males. Am J Med Genet A. 2010;152A:2512-20 pubmed publisher
    ..FXS), the most common inherited form of developmental delay, is typically caused by CGG-repeat expansion in FMR1. However, little attention has been paid to sequence variants in FMR1...
  16. Osterweil E, Krueger D, Reinhold K, Bear M. Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome. J Neurosci. 2010;30:15616-27 pubmed publisher
    Fragile X syndrome (FXS) is caused by loss of the FMR1 gene product FMRP (fragile X mental retardation protein), a repressor of mRNA translation...
  17. Ronesi J, Collins K, Hays S, Tsai N, Guo W, Birnbaum S, et al. Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome. Nat Neurosci. 2012;15:431-40, S1 pubmed publisher
    ..mGluR5-Homer scaffolds contribute to mGluR5 dysfunction and phenotypes in the fragile X syndrome mouse model, Fmr1 knockout (Fmr1(-/y))...
  18. Restivo L, Ferrari F, Passino E, Sgobio C, Bock J, Oostra B, et al. Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome. Proc Natl Acad Sci U S A. 2005;102:11557-62 pubmed
    ..most frequent form of hereditary mental retardation, is due to a mutation of the fragile X mental retardation 1 (FMR1) gene on the X chromosome...
  19. Larson J, Jessen R, Kim D, Fine A, du Hoffmann J. Age-dependent and selective impairment of long-term potentiation in the anterior piriform cortex of mice lacking the fragile X mental retardation protein. J Neurosci. 2005;25:9460-9 pubmed
    Synaptic function and plasticity were studied in mice lacking the fragile X mental retardation protein (FMRP), a model for the fragile X mental retardation syndrome...
  20. Curia G, Papouin T, Séguéla P, Avoli M. Downregulation of tonic GABAergic inhibition in a mouse model of fragile X syndrome. Cereb Cortex. 2009;19:1515-20 pubmed publisher
    ..The phenotype of FXS is reproduced in fragile X mental retardation 1 (fmr1) knockout (KO) mice that have region-specific altered expression of some gamma-aminobutyric acid (GABA(A)) receptor ..
  21. Suvrathan A, Hoeffer C, Wong H, Klann E, Chattarji S. Characterization and reversal of synaptic defects in the amygdala in a mouse model of fragile X syndrome. Proc Natl Acad Sci U S A. 2010;107:11591-6 pubmed publisher
    ..form of mental impairment and autism, is caused by transcriptional silencing of the fragile X mental retardation 1 (FMR1) gene...
  22. Gocel J, Larson J. Synaptic NMDA receptor-mediated currents in anterior piriform cortex are reduced in the adult fragile X mouse. Neuroscience. 2012;221:170-81 pubmed publisher
    ..is a neurodevelopmental condition caused by the transcriptional silencing of the fragile X mental retardation 1 (FMR1) gene...
  23. Todd P, Mack K, Malter J. The fragile X mental retardation protein is required for type-I metabotropic glutamate receptor-dependent translation of PSD-95. Proc Natl Acad Sci U S A. 2003;100:14374-8 pubmed
    ..inherited cause of mental retardation resulting from the absence of the fragile X mental retardation protein (FMRP). FMRP is thought to regulate the translation of target mRNAs, including its own transcript...
  24. Dolen G, Osterweil E, Rao B, Smith G, Auerbach B, Chattarji S, et al. Correction of fragile X syndrome in mice. Neuron. 2007;56:955-62 pubmed
    ..FXS is caused by transcriptional silencing of the FMR1 gene that encodes the fragile X mental retardation protein (FMRP), but the pathogenesis of the disease is unknown...
  25. Wilson B, Cox C. Absence of metabotropic glutamate receptor-mediated plasticity in the neocortex of fragile X mice. Proc Natl Acad Sci U S A. 2007;104:2454-9 pubmed
    ..an apparent immature appearance of neurons in fragile X syndrome patients and fragile X mental retardation protein (FMRP)-knockout mice, an animal model of this condition...
  26. El Fatimy R, Tremblay S, Dury A, Solomon S, De Koninck P, Schrader J, et al. Fragile X mental retardation protein interacts with the RNA-binding protein Caprin1 in neuronal RiboNucleoProtein complexes [corrected]. PLoS ONE. 2012;7:e39338 pubmed publisher
    Fragile X syndrome is caused by the absence of the Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein...
  27. Mineur Y, Sluyter F, de Wit S, Oostra B, Crusio W. Behavioral and neuroanatomical characterization of the Fmr1 knockout mouse. Hippocampus. 2002;12:39-46 pubmed
    ..These data suggest the involvement of FMRP protein in the development of spatial learning and the sprouting of IIPMF terminal fields.
  28. Weiler I, Spangler C, Klintsova A, Grossman A, Kim S, Bertaina Anglade V, et al. Fragile X mental retardation protein is necessary for neurotransmitter-activated protein translation at synapses. Proc Natl Acad Sci U S A. 2004;101:17504-9 pubmed
    ..is caused by absence of the RNA-binding protein fragile X mental retardation protein (FMRP), encoded by the FMR1 gene. There is increasing evidence that FMRP regulates transport and modulates translation of some mRNAs...
  29. Strumbos J, Brown M, Kronengold J, Polley D, Kaczmarek L. Fragile X mental retardation protein is required for rapid experience-dependent regulation of the potassium channel Kv3.1b. J Neurosci. 2010;30:10263-71 pubmed publisher
    ..At baseline, Fmr1(-/-) mice, which lack FMRP, displayed dramatically flattened tonotopicity in Kv3...
  30. Kim H, Gibboni R, Kirkhart C, Bao S. Impaired critical period plasticity in primary auditory cortex of fragile X model mice. J Neurosci. 2013;33:15686-92 pubmed publisher
    ..Altered developmental plasticity has been reported in the visual and somatosensory systems in Fmr1 knock-out (KO) mice...
  31. Comery T, Harris J, Willems P, Oostra B, Irwin S, Weiler I, et al. Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. Proc Natl Acad Sci U S A. 1997;94:5401-4 pubmed
    Fragile X syndrome arises from blocked expression of the fragile X mental retardation protein (FMRP)...
  32. Qin M, Kang J, Smith C. A null mutation for Fmr1 in female mice: effects on regional cerebral metabolic rate for glucose and relationship to behavior. Neuroscience. 2005;135:999-1009 pubmed
    ..we determined regional cerebral metabolic rate for glucose (rCMR(glc)) in adult, female wild type and fragile X (Fmr1 null) mice homozygous and heterozygous for the null mutation...
  33. Davidovic L, Jaglin X, Lepagnol Bestel A, Tremblay S, Simonneau M, Bardoni B, et al. The fragile X mental retardation protein is a molecular adaptor between the neurospecific KIF3C kinesin and dendritic RNA granules. Hum Mol Genet. 2007;16:3047-58 pubmed
    Fragile X mental retardation 1 protein (FMRP) is an RNA-binding protein whose absence results in the fragile X syndrome, the most common inherited form of mental retardation...
  34. Moy S, Nadler J, Young N, Nonneman R, Grossman A, Murphy D, et al. Social approach in genetically engineered mouse lines relevant to autism. Genes Brain Behav. 2009;8:129-42 pubmed publisher
    ..b>Fmr1(tm1Cgr/Y)(Fmr1(-/y)) mice represent a model for fragile X, a mental retardation syndrome that is partially comorbid ..
  35. Cruz Martin A, Crespo M, Portera Cailliau C. Delayed stabilization of dendritic spines in fragile X mice. J Neurosci. 2010;30:7793-803 pubmed publisher
    Fragile X syndrome (FXS) causes mental impairment and autism through transcriptional silencing of the Fmr1 gene, resulting in the loss of the RNA-binding protein fragile X mental retardation protein (FMRP)...
  36. Oddi D, Crusio W, D Amato F, Pietropaolo S. Monogenic mouse models of social dysfunction: implications for autism. Behav Brain Res. 2013;251:75-84 pubmed publisher
    ..KO) mouse line, which targets the opioid system (known to be involved in the control of social behaviors); and the Fmr1-KO mouse, a model for Fragile X syndrome (a neurodevelopmental syndrome that includes autistic symptoms)...
  37. Ceman S, Brown V, Warren S. Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex. Mol Cell Biol. 1999;19:7925-32 pubmed
    ..The encoded protein, FMRP, is a member of a gene family that also contains the fragile X-related proteins, FXR1P and FXR2P...
  38. Singh K, Prasad S. Differential expression of Fmr-1 mRNA and FMRP in female mice brain during aging. Mol Biol Rep. 2008;35:677-84 pubmed
    ..As a consequence, the expression of the RNA binding protein FMRP is stopped. Absence of this protein leads to several morphological and neurological symptoms...
  39. Darnell J, Fraser C, Mostovetsky O, Darnell R. Discrimination of common and unique RNA-binding activities among Fragile X mental retardation protein paralogs. Hum Mol Genet. 2009;18:3164-77 pubmed publisher
    Fragile X mental retardation is caused by loss-of-function of a single gene encoding FMRP, an RNA-binding protein that harbors three canonical RNA-binding domains, two KH-type and one RGG box...
  40. Udagawa T, Farny N, Jakovcevski M, Kaphzan H, Alarcon J, Anilkumar S, et al. Genetic and acute CPEB1 depletion ameliorate fragile X pathophysiology. Nat Med. 2013;19:1473-7 pubmed publisher
    ..FXS), the most common cause of inherited mental retardation and autism, is caused by transcriptional silencing of FMR1, which encodes the translational repressor fragile X mental retardation protein (FMRP)...
  41. Schenck A, Bardoni B, Moro A, Bagni C, Mandel J. A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. Proc Natl Acad Sci U S A. 2001;98:8844-9 pubmed
    The absence of the fragile X mental retardation protein (FMRP), encoded by the FMR1 gene, is responsible for pathologic manifestations in the Fragile X Syndrome, the most frequent cause of inherited mental retardation...
  42. Fisch G, Hao H, Bakker C, Oostra B. Learning and memory in the FMR1 knockout mouse. Am J Med Genet. 1999;84:277-82 pubmed
    ..Deficits are especially evident in auditory and visual short-term memory. Recently, an FMR1 knockout mouse developed by the Dutch-Belgian Fragile X Consortium demonstrated significantly lower visual-spatial ..
  43. Ferrari F, Mercaldo V, Piccoli G, Sala C, Cannata S, Achsel T, et al. The fragile X mental retardation protein-RNP granules show an mGluR-dependent localization in the post-synaptic spines. Mol Cell Neurosci. 2007;34:343-54 pubmed
    ..A key molecule in these processes is the fragile X mental retardation protein (FMRP)...
  44. Klemmer P, Meredith R, Holmgren C, Klychnikov O, Stahl Zeng J, Loos M, et al. Proteomics, ultrastructure, and physiology of hippocampal synapses in a fragile X syndrome mouse model reveal presynaptic phenotype. J Biol Chem. 2011;286:25495-504 pubmed publisher
    ..is caused by a loss-of-function mutation of the Fmr1 gene, which encodes fragile X mental retardation protein (FMRP). FMRP affects dendritic protein synthesis, thereby causing synaptic abnormalities...
  45. Scotto Lomassese S, Nissant A, Mota T, Neant Fery M, Oostra B, Greer C, et al. Fragile X mental retardation protein regulates new neuron differentiation in the adult olfactory bulb. J Neurosci. 2011;31:2205-15 pubmed publisher
    ..The anatomical landmark of the disease, also present in the Fmr1 knock-out (KO) mice, is the hyperabundance of immature-looking lengthened dendritic spines...
  46. Wang H, Morishita Y, Miura D, Naranjo J, Kida S, Zhuo M. Roles of CREB in the regulation of FMRP by group I metabotropic glutamate receptors in cingulate cortex. Mol Brain. 2012;5:27 pubmed publisher
    Fragile X syndrome is caused by lack of fragile X mental retardation protein (FMRP) due to silencing of the FMR1 gene...
  47. Frankland P, Wang Y, Rosner B, Shimizu T, Balleine B, Dykens E, et al. Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice. Mol Psychiatry. 2004;9:417-25 pubmed
    Fragile X syndrome (FXS) is the most common single gene (FMR1) disorder affecting cognitive and behavioral function in humans...
  48. Park S, Park J, Kim S, Kim J, Shepherd J, Smith Hicks C, et al. Elongation factor 2 and fragile X mental retardation protein control the dynamic translation of Arc/Arg3.1 essential for mGluR-LTD. Neuron. 2008;59:70-83 pubmed publisher
    ..1 translation and mGluR-LTD. This rapid translational mechanism is disrupted in the fragile X disease mouse (Fmr1 KO) in which mGluR-LTD does not require de novo protein synthesis but does require Arc/Arg3.1...
  49. Adusei D, Pacey L, Chen D, Hampson D. Early developmental alterations in GABAergic protein expression in fragile X knockout mice. Neuropharmacology. 2010;59:167-71 pubmed publisher
    Fragile X syndrome is the most common heritable form of mental retardation. It is caused by silencing of the Fmr1 gene and the absence of the encoded protein...
  50. Musumeci S, Bosco P, Calabrese G, Bakker C, De Sarro G, Elia M, et al. Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome. Epilepsia. 2000;41:19-23 pubmed
    ..These results support the validity of this animal model also for epilepsy and seizures in the human fragile X syndrome. ..
  51. Zalfa F, Eleuteri B, Dickson K, Mercaldo V, De Rubeis S, Di Penta A, et al. A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability. Nat Neurosci. 2007;10:578-87 pubmed
    Fragile X syndrome (FXS) results from the loss of the fragile X mental retardation protein (FMRP), an RNA-binding protein that regulates a variety of cytoplasmic mRNAs...
  52. Yang Q, Feng B, Zhang K, Guo Y, Liu S, Wu Y, et al. Excessive astrocyte-derived neurotrophin-3 contributes to the abnormal neuronal dendritic development in a mouse model of fragile X syndrome. PLoS Genet. 2012;8:e1003172 pubmed publisher
    ..In this study, we found that astrocytes derived from a Fragile X model, the Fmr1 knockout (KO) mouse which lacks FMRP expression, inhibited the proper elaboration of dendritic processes of neurons in vitro...
  53. Thomas A, Bui N, Graham D, Perkins J, Yuva Paylor L, Paylor R. Genetic reduction of group 1 metabotropic glutamate receptors alters select behaviors in a mouse model for fragile X syndrome. Behav Brain Res. 2011;223:310-21 pubmed publisher
    ..Studies in the Fmr1 knockout (KO) mouse model for FXS suggest that excessive signaling through group I metabotropic glutamate receptors ..
  54. Till S, Wijetunge L, Seidel V, Harlow E, Wright A, Bagni C, et al. Altered maturation of the primary somatosensory cortex in a mouse model of fragile X syndrome. Hum Mol Genet. 2012;21:2143-56 pubmed publisher
    ..In the Fmr1 knockout mouse, we find a delay in somatosensory map formation, alterations in the morphology profile of dendrites ..
  55. Bakker C, de Diego Otero Y, Bontekoe C, Raghoe P, Luteijn T, Hoogeveen A, et al. Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse. Exp Cell Res. 2000;258:162-70 pubmed
    Fragile X syndrome is caused by the absence of expression of the FMR1 gene. Both FXR1 and FXR2 are autosomal gene homologues of FMR1...
  56. Qiu L, Lu T, Hu X, Yi Y, Liao W, Xiong Z. Limbic epileptogenesis in a mouse model of fragile X syndrome. Cereb Cortex. 2009;19:1504-14 pubmed publisher
    ..The rate of kindling development in WT was not effected by MPEP, however, suggesting that FMRP normally suppresses epileptogenic signaling downstream of metabolic glutamate receptors...
  57. Koekkoek S, Yamaguchi K, Milojkovic B, Dortland B, Ruigrok T, Maex R, et al. Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome. Neuron. 2005;47:339-52 pubmed
    ..Here, we demonstrate that both global and Purkinje cell-specific knockouts of Fmr1 show deficits in classical delay eye-blink conditioning in that the percentage of conditioned responses as well as ..
  58. de Vrij F, Levenga J, van der Linde H, Koekkoek S, De Zeeuw C, Nelson D, et al. Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis. 2008;31:127-32 pubmed publisher
    Lack of fragile X mental retardation protein (FMRP) causes Fragile X Syndrome, the most common form of inherited mental retardation...
  59. Zhang J, Hou L, Klann E, Nelson D. Altered hippocampal synaptic plasticity in the FMR1 gene family knockout mouse models. J Neurophysiol. 2009;101:2572-80 pubmed publisher
    ..The syndrome results from the absence of the fragile X mental retardation protein (FMRP), which is encoded by the fragile X mental retardation 1 (FMR1) gene...
  60. Zalfa F, Giorgi M, Primerano B, Moro A, Di Penta A, Reis S, et al. The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses. Cell. 2003;112:317-27 pubmed
    The Fragile X syndrome, which results from the absence of functional FMRP protein, is the most common heritable form of mental retardation. Here, we show that FMRP acts as a translational repressor of specific mRNAs at synapses...
  61. Godfraind J, Reyniers E, De Boulle K, D Hooge R, De Deyn P, Bakker C, et al. Long-term potentiation in the hippocampus of fragile X knockout mice. Am J Med Genet. 1996;64:246-51 pubmed
    To gain more insight in the physiological function of the fragile X gene (FMR1) and the mechanisms leading to fragile X syndrome, the Fmr1 gene has been inactivated in mice by gene targeting techniques...
  62. Paradee W, Melikian H, Rasmussen D, Kenneson A, Conn P, Warren S. Fragile X mouse: strain effects of knockout phenotype and evidence suggesting deficient amygdala function. Neuroscience. 1999;94:185-92 pubmed
    ..These data suggest that amygdala disturbances may also be involved in fragile X syndrome. ..
  63. Mientjes E, Nieuwenhuizen I, Kirkpatrick L, Zu T, Hoogeveen Westerveld M, Severijnen L, et al. The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo. Neurobiol Dis. 2006;21:549-55 pubmed
    ..This results in animals lacking Fmr1 protein (Fmrp) expression in all tissues...
  64. Hays S, Huber K, Gibson J. Altered neocortical rhythmic activity states in Fmr1 KO mice are due to enhanced mGluR5 signaling and involve changes in excitatory circuitry. J Neurosci. 2011;31:14223-34 pubmed publisher
    ..network function in the form of persistent activity states in the mouse model of fragile X syndrome--the Fmr1 knock-out (KO)...
  65. Janusz A, Milek J, Perycz M, Pacini L, Bagni C, Kaczmarek L, et al. The Fragile X mental retardation protein regulates matrix metalloproteinase 9 mRNA at synapses. J Neurosci. 2013;33:18234-41 pubmed publisher
    ..of dendritic spine architecture and was shown to regulate spine morphology in a mouse model of FXS, the Fmr1 knock-out mice. Here we show that MMP-9 mRNA is part of the FMRP complex and colocalizes in dendrites...
  66. Bontekoe C, Bakker C, Nieuwenhuizen I, van der Linde H, Lans H, de Lange D, et al. Instability of a (CGG)98 repeat in the Fmr1 promoter. Hum Mol Genet. 2001;10:1693-9 pubmed
    ..It arises due to expansion of a CGG repeat which is present in the 5'-untranslated region of the FMR1 gene, disruption of which leads to mental retardation...
  67. Verheij C, de Graaff E, Bakker C, Willemsen R, Willems P, Meijer N, et al. Characterization of FMR1 proteins isolated from different tissues. Hum Mol Genet. 1995;4:895-901 pubmed
    b>FMR1 protein expression was studied in different tissues. In human, monkey and murine tissues, high molecular mass FMR1 proteins (67-80 kDa) are found, as shown in lymphoblastoid cells lines...
  68. Brennan F, Albeck D, Paylor R. Fmr1 knockout mice are impaired in a leverpress escape/avoidance task. Genes Brain Behav. 2006;5:467-71 pubmed
    ..To better understand the role of Fmr1 and its gene product fragile X mental-retardation protein (FMRP) in central nervous system function, researchers have turned to the use of animal model systems to generate an Fmr1 ..
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    Fragile X syndrome, caused by the loss of FMR1 gene function and loss of fragile X mental retardation protein (FMRP), is the most commonly inherited form of mental retardation...
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    Fragile X syndrome is caused by loss of function of a single gene encoding the Fragile X Mental Retardation Protein (FMRP)...
  72. D Hooge R, Nagels G, Franck F, Bakker C, Reyniers E, Storm K, et al. Mildly impaired water maze performance in male Fmr1 knockout mice. Neuroscience. 1997;76:367-76 pubmed
    b>Fmr1 knockout mice constitute a putative model of fragile X syndrome, the most common form of heritable mental disability in humans...
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    Lack of expression of the fragile X mental retardation protein (FMRP), due to silencing of the FMR1 gene, causes the Fragile X syndrome...
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    ..We also present evidence for alternative splicing of the FMR-1 gene in mouse and human brain and show that one of these splicing events alters the FMR-1 reading frame, predicting isoforms with novel carboxy termini. ..
  75. Nimchinsky E, Oberlander A, Svoboda K. Abnormal development of dendritic spines in FMR1 knock-out mice. J Neurosci. 2001;21:5139-46 pubmed
    ..X syndrome is caused by a mutation in the FMR1 gene leading to absence of the fragile X mental retardation protein (FMRP)...
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    ..of the Fragile X mental retardation syndrome result from the loss of function of the RNA-binding protein FMRP. The disease is usually caused by a triplet repeat expansion in the 5'UTR of the FMR1 gene...
  77. Selby L, Zhang C, Sun Q. Major defects in neocortical GABAergic inhibitory circuits in mice lacking the fragile X mental retardation protein. Neurosci Lett. 2007;412:227-32 pubmed
    ..study focused on the cytoarchitectonic and morphological differences in GABA-releasing interneurons between adult Fmr1 knock-out (FMR1KO) and wild-type (WT) mice in the somatosensory cortex...
  78. Wang H, Kim S, Zhuo M. Roles of fragile X mental retardation protein in dopaminergic stimulation-induced synapse-associated protein synthesis and subsequent alpha-amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) receptor internalization. J Biol Chem. 2010;285:21888-901 pubmed publisher
    ..mental retardation, is caused by the absence of the RNA-binding protein fragile X mental retardation protein (FMRP). FMRP regulates local protein synthesis in dendritic spines...
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    Fragile X syndrome (FXS) results from the loss of expression of the fragile X mental retardation (FMR1) gene...
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    ..Bidirectional control of PSD-95 expression depends on miR-125a and FMRP phosphorylation status. miR-125a levels at synapses and its association with AGO2 are reduced in Fmr1 KO...
  81. Paluszkiewicz S, Olmos Serrano J, Corbin J, Huntsman M. Impaired inhibitory control of cortical synchronization in fragile X syndrome. J Neurophysiol. 2011;106:2264-72 pubmed publisher
    ..b>Fmr1 knockout (KO) mouse models of FXS exhibit alterations in excitatory and inhibitory neurotransmission, but it is ..
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    ..The results identify the endocannabinoid signalosome as a molecular substrate for fragile X syndrome, which might be targeted by therapy...
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    The Fmr1 gene knockout mouse is a model for the human Fragile X mental retardation syndrome...
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    Fragile X mental retardation is caused by silencing of the gene (FMR1) that encodes the RNA-binding protein (FMRP) that influences translation in neurons...
  85. Louhivuori V, Vicario A, Uutela M, Rantamäki T, Louhivuori L, Castren E, et al. BDNF and TrkB in neuronal differentiation of Fmr1-knockout mouse. Neurobiol Dis. 2011;41:469-80 pubmed publisher
    ..FXS is caused by the loss of functional fragile X mental retardation protein (FMRP), which leads to abnormalities in the differentiation of neural progenitor cells (NPCs) and in the development of ..
  86. Schütt J, Falley K, Richter D, Kreienkamp H, Kindler S. Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities. J Biol Chem. 2009;284:25479-87 pubmed publisher
    Functional absence of fragile X mental retardation protein (FMRP) causes the fragile X syndrome, a hereditary form of mental retardation characterized by a change in dendritic spine morphology...
  87. Zhang L, Alger B. Enhanced endocannabinoid signaling elevates neuronal excitability in fragile X syndrome. J Neurosci. 2010;30:5724-9 pubmed publisher
    Fragile X syndrome (FXS) results from deficiency of fragile X mental retardation protein (FMRP). FXS is the most common heritable form of mental retardation, and is associated with the occurrence of seizures...
  88. . Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium. Cell. 1994;78:23-33 pubmed
    Male patients with fragile X syndrome lack FMR1 protein due to silencing of the FMR1 gene by amplification of a CGG repeat and subsequent methylation of the promoter region...
  89. Shang Y, Wang H, Mercaldo V, Li X, Chen T, Zhuo M. Fragile X mental retardation protein is required for chemically-induced long-term potentiation of the hippocampus in adult mice. J Neurochem. 2009;111:635-46 pubmed publisher
    ..a common form of inherited mental retardation, is caused by the lack of fragile X mental retardation protein (FMRP)...
  90. Iliff A, Renoux A, Krans A, Usdin K, Sutton M, Todd P. Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice. Hum Mol Genet. 2013;22:1180-92 pubmed publisher
    ..repeats increase FMR1 transcription but impair rapid translation of the Fragile X mental retardation protein (FMRP), which is absent in Fragile X Syndrome (FXS)...
  91. Westmark C, Westmark P, O Riordan K, Ray B, Hervey C, Salamat M, et al. Reversal of fragile X phenotypes by manipulation of A?PP/A? levels in Fmr1KO mice. PLoS ONE. 2011;6:e26549 pubmed publisher
    ..A? is over-expressed in the brain of Fmr1(KO) mice, suggesting a pathogenic role in FXS...
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    Fragile X syndrome results from inadequate production of the fragile X mental retardation protein (FMRP)...