CGG repeat in the FMR1 gene: size matters
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R. Willemsen | R. Willemsen | BA Oostra | B. Oostra | J. Levenga | R Willemsen | J Levenga | J. Levenga | B. Oostra
[1] L Zhang,et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. , 2004, American journal of human genetics.
[2] M. Epstein,et al. Examination of reproductive aging milestones among women who carry the FMR1 premutation. , 2007, Human reproduction.
[3] K. Davies,et al. Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome , 1991, Cell.
[4] B. Oostra,et al. Potential therapeutic interventions for fragile X syndrome. , 2010, Trends in molecular medicine.
[5] D. Munoz. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. , 2002, Neurology.
[6] P. Sharp,et al. Regulation of Synaptic Structure and Function by FMRP-Associated MicroRNAs miR-125 b and miR-132 , 2010 .
[7] Yan Wang,et al. Pharmacological Rescue of Synaptic Plasticity, Courtship Behavior, and Mushroom Body Defects in a Drosophila Model of Fragile X Syndrome , 2005, Neuron.
[8] Daniela C. Zarnescu,et al. Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila. , 2008, Nature chemical biology.
[9] D. Schlessinger,et al. Fragile X genotype characterized by an unstable region of DNA , 1991, Science.
[10] J Grigsby,et al. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). , 2006, Brain : a journal of neurology.
[11] M. J. den Broeder,et al. Generation and Characterization of Fmr1 Knockout Zebrafish , 2009, PloS one.
[12] K. Usdin,et al. ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice , 2009, Nucleic acids research.
[13] Mariette Schrier,et al. Transport of Fragile X Mental Retardation Protein via Granules in Neurites of PC12 Cells , 2002, Molecular and Cellular Biology.
[14] D. Nelson,et al. Ectopic expression of CGG containing mRNA is neurotoxic in mammals. , 2009, Human molecular genetics.
[15] Raffaele Ferri,et al. Audiogenic Seizures Susceptibility in Transgenic Mice with Fragile X Syndrome , 2000, Epilepsia.
[16] J. Annegers,et al. Incidence of Premature Ovarian Failure , 1986, Obstetrics and gynecology.
[17] Mark F Bear,et al. The mGluR theory of fragile X mental retardation , 2004, Trends in Neurosciences.
[18] B. Oostra,et al. CGG‐repeat length and neuropathological and molecular correlates in a mouse model for fragile X‐associated tremor/ataxia syndrome , 2008, Journal of neurochemistry.
[19] R. Carroll,et al. Local functions for FMRP in axon growth cone motility and activity-dependent regulation of filopodia and spine synapses , 2006, Molecular and Cellular Neuroscience.
[20] M. Leehey. Fragile X-Associated Tremor/Ataxia Syndrome , 2009, Journal of Investigative Medicine.
[21] Chris I. De Zeeuw,et al. Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice , 2008, Neurobiology of Disease.
[22] B. Oostra,et al. Molecular dissection of the events leading to inactivation of the FMR1 gene. , 2005, Human molecular genetics.
[23] Bassem A. Hassan,et al. Decreased expression of the GABAA receptor in fragile X syndrome , 2006, Brain Research.
[24] L. Doering,et al. Astrocytes Prevent Abnormal Neuronal Development in the Fragile X Mouse , 2010, The Journal of Neuroscience.
[25] I. Weiler,et al. Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. , 2001, American journal of medical genetics.
[26] S. Richard,et al. Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients , 2010, The EMBO journal.
[27] M. D. Del Bigio,et al. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. , 2002, Brain : a journal of neurology.
[28] Mariette Schrier,et al. Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells , 2004, Experimental Neurology.
[29] R. Nussbaum,et al. Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. , 2007, Gene.
[30] B. D. Vries,et al. Fragile X syndrome: diagnosis, treatment and research , 2003, Human Genetics.
[31] J. Fallon,et al. The FXG: A Presynaptic Fragile X Granule Expressed in a Subset of Developing Brain Circuits , 2009, The Journal of Neuroscience.
[32] K. Usdin,et al. ATR protects the genome against CGG·CCG-repeat expansion in Fragile X premutation mice , 2007, Nucleic acids research.
[33] I. Weiler,et al. Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice. , 2002, American journal of medical genetics.
[34] Rob Willemsen,et al. The fragile X syndrome: from molecular genetics to neurobiology. , 2004, Mental retardation and developmental disabilities research reviews.
[35] J. Darnell,et al. Fragile X Mental Retardation Protein Targets G Quartet mRNAs Important for Neuronal Function , 2001, Cell.
[36] Robert H Singer,et al. A direct role for FMRP in activity-dependent dendritic mRNA transport links filopodial-spine morphogenesis to fragile X syndrome. , 2008, Developmental cell.
[37] G. Neri,et al. Reactivation of silenced genes and transcriptional therapy , 2003, Cytogenetic and Genome Research.
[38] Karel Svoboda,et al. Abnormal Development of Dendritic Spines inFMR1 Knock-Out Mice , 2001, The Journal of Neuroscience.
[39] P. Hagerman. The fragile X prevalence paradox , 2008, Journal of Medical Genetics.
[40] I. Weiler,et al. Fragile X mental retardation protein is necessary for neurotransmitter-activated protein translation at synapses. , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[41] Peng Jin,et al. RNA-Mediated Neurodegeneration Caused by the Fragile X Premutation rCGG Repeats in Drosophila , 2003, Neuron.
[42] P. Hagerman,et al. Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development. , 2011, Human molecular genetics.
[43] M. Kiebler,et al. Neuronal RNA Granules: Movers and Makers , 2006, Neuron.
[44] Janice Branson,et al. Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056 , 2011, Science Translational Medicine.
[45] D. Nelson,et al. The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo , 2006, Neurobiology of Disease.
[46] Rob Willemsen,et al. Microsatellite repeat instability and neurological disease , 2009, BioEssays : news and reviews in molecular, cellular and developmental biology.
[47] M. Siomi,et al. A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins. , 2002, Genes & development.
[48] M. Hunsaker,et al. Progressive spatial processing deficits in a mouse model of the fragile X premutation. , 2009, Behavioral neuroscience.
[49] S. Ceman,et al. FMRP Phosphorylation Reveals an Immediate-Early Signaling Pathway Triggered by Group I mGluR and Mediated by PP2A , 2007, The Journal of Neuroscience.
[50] Michael R. Hunsaker,et al. Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome , 2011, Molecular autism.
[51] M. Hunsaker,et al. Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation , 2010, Brain Research.
[52] P. Jin,et al. Pur α Binds to rCGG Repeats and Modulates Repeat-Mediated Neurodegeneration in a Drosophila Model of Fragile X Tremor/Ataxia Syndrome , 2007, Neuron.
[53] Guy Nagels,et al. Fmr1 knockout mice: A model to study fragile X mental retardation , 1994, Cell.
[54] I. Weiler,et al. Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. , 1997, Proceedings of the National Academy of Sciences of the United States of America.
[55] D. Nelson,et al. Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons , 2009, Neurobiology of Disease.
[56] J. Mandel,et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome , 1991, Science.
[57] W. Le,et al. Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model , 2010, Human mutation.
[58] M. Bear,et al. Mechanism-based approaches to treating fragile X. , 2010, Pharmacology & therapeutics.
[59] J. Brunberg,et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. , 2004, JAMA.
[60] J. Sutcliffe,et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome , 1991, Cell.
[61] Edwin Reyniers,et al. A point mutation in the FMR-1 gene associated with fragile X mental retardation , 1993, Nature Genetics.
[62] P. Hagerman,et al. FMR1 RNA within the Intranuclear Inclusions of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) , 2004, RNA biology.
[63] P. Hagerman,et al. Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. , 2007, The Journal of urology.
[64] L. Doering,et al. Developmental expression of FMRP in the astrocyte lineage: Implications for fragile X syndrome , 2007, Glia.
[65] Vetle I. Torvik,et al. Expression of microRNAs and their precursors in synaptic fractions of adult mouse forebrain , 2008, Journal of neurochemistry.
[66] C. B. Smith,et al. A mouse model of the fragile X premutation: Effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis , 2011, Neurobiology of Disease.
[67] B. Oostra,et al. Understanding fragile X syndrome: insights from animal models , 2003, Cytogenetic and Genome Research.
[68] P. Jin,et al. RNA-Binding Proteins hnRNP A2/B1 and CUGBP1 Suppress Fragile X CGG Premutation Repeat-Induced Neurodegeneration in a Drosophila Model of FXTAS , 2007, Neuron.
[69] Naomi J. Goodrich-Hunsaker,et al. Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation , 2010, Behavioural Brain Research.
[70] C. Goetz,et al. Fibroblast phenotype in male carriers of FMR1 premutation alleles. , 2010, Human molecular genetics.
[71] Gerald M. Rubin,et al. Drosophila Fragile X-Related Gene Regulates the MAP1B Homolog Futsch to Control Synaptic Structure and Function , 2001, Cell.
[72] D. Nelson,et al. Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation. , 2007, Experimental cell research.
[73] J. Brouwer,et al. The FMR1 gene and fragile X‐associated tremor/ataxia syndrome , 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
[74] W. Brown,et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. , 2003, American journal of human genetics.
[75] T. Gilliam,et al. Screen for expanded FMR1 alleles in patients with essential tremor , 2004, Movement disorders : official journal of the Movement Disorder Society.
[76] Lexin Li,et al. Elevated FMR1 mRNA in premutation carriers is due to increased transcription. , 2007, RNA.
[77] D. Nelson,et al. Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. , 2009, Future neurology.
[78] W. Brown,et al. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data. , 1999, American journal of medical genetics.
[79] Murrey G. Olmsted,et al. Co‐occurring conditions associated with FMR1 gene variations: Findings from a national parent survey , 2008, American journal of medical genetics. Part A.
[80] P. Hagerman,et al. Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. , 2010, Human molecular genetics.
[81] P. Hagerman,et al. Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles , 2011, Nucleic acids research.
[82] R. Frank Kooy,et al. Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS) , 2005, Behavioural Brain Research.
[83] W. Greenough,et al. Hippocampal pyramidal cells in adult Fmr1 knockout mice exhibit an immature-appearing profile of dendritic spines , 2006, Brain Research.
[84] W. Greenough,et al. Sequence of abnormal dendritic spine development in primary somatosensory cortex of a mouse model of the fragile X mental retardation syndrome , 2005, American journal of medical genetics. Part A.
[85] D. Absher,et al. FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. , 1997, Molecular cell.
[86] S. Eddy,et al. Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes. , 2005, Genes & development.
[87] Michael Lardelli,et al. Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome. , 2006, Human molecular genetics.
[88] A. Taylor,et al. Molecular-clinical correlations in males with an expanded FMR1 mutation. , 1996, American journal of medical genetics.
[89] O. Yanuka,et al. Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. , 2007, Cell stem cell.
[90] M. Patton,et al. Clinical features of boys with fragile X premutations and intermediate alleles , 2003, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
[91] M. Epstein,et al. Association of FMR1 repeat size with ovarian dysfunction. , 2005, Human reproduction.
[92] D. Loesch,et al. Autism Spectrum Disorders and Attention-Deficit/Hyperactivity Disorder in Boys with the Fragile X Premutation , 2006, Journal of developmental and behavioral pediatrics : JDBP.
[93] A. Murray,et al. Premature Ovarian Failure and the FMR1 Gene , 2000, Seminars in reproductive medicine.
[94] Daniela C. Zarnescu,et al. Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway , 2004, Nature Neuroscience.
[95] F. Kooy,et al. Fragile X syndrome: from gene discovery to therapy. , 2011, Frontiers in bioscience.
[96] R. Kooy. Of mice and the fragile X syndrome. , 2003, Trends in genetics : TIG.
[97] S. Ceman,et al. Phosphorylation influences the translation state of FMRP-associated polyribosomes. , 2003, Human molecular genetics.
[98] P. Hagerman,et al. The fragile X premutation: into the phenotypic fold. , 2002, Current opinion in genetics & development.
[99] M. T. Pellecchia,et al. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. , 2005, Brain : a journal of neurology.
[100] R. Kooy,et al. The GABAA receptor: a novel target for treatment of fragile X? , 2007, Trends in Neurosciences.
[101] Sarah Wong,et al. Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. , 2010, The Biochemical journal.
[102] Giulio Tononi,et al. The Drosophila Fragile X Mental Retardation Gene Regulates Sleep Need , 2009, The Journal of Neuroscience.
[103] S. Tapscott,et al. An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. , 2007, Human molecular genetics.
[104] O. Steward,et al. No evidence for disruption of normal patterns of mRNA localization in dendrites or dendritic transport of recently synthesized mRNA in FMR1 knockout mice, a model for human fragile‐X mental retardation syndrome , 1998, Neuroreport.
[105] Mariette Schrier,et al. The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. , 2003, Human molecular genetics.
[106] J. Bourgeois,et al. FXTAS: Neuropsychological/Neuropsychiatric Phenotypes , 2010 .
[107] A. Ostareck-Lederer,et al. Evidence that fragile X mental retardation protein is a negative regulator of translation. , 2001, Human molecular genetics.
[108] S. Ceman,et al. S6K1 Phosphorylates and Regulates Fragile X Mental Retardation Protein (FMRP) with the Neuronal Protein Synthesis-dependent Mammalian Target of Rapamycin (mTOR) Signaling Cascade* , 2008, Journal of Biological Chemistry.
[109] S. Koekkoek,et al. AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome , 2011, Neurobiology of Disease.
[110] P. Hagerman,et al. Advances in understanding the molecular basis of FXTAS. , 2010, Human molecular genetics.
[111] Peter K. Todd,et al. Histone Deacetylases Suppress CGG Repeat–Induced Neurodegeneration Via Transcriptional Silencing in Models of Fragile X Tremor Ataxia Syndrome , 2010, PLoS genetics.
[112] P. Hagerman,et al. Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. , 2005, Human molecular genetics.