Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 39 for “"FMR1"”.
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Deletion of FMR1 results in sex-specific changes in behavior.
… by excessive trinucleotide (CGG) repeats in the FMR1 gene coding for fragile x mental retardation protein (FMRP). In humans, this disorder is characterized by intellectual disability, as well as other behavioral abnormalities, such as hyperactivity and social behavior abnormalities. Mutations in …
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Ultrastructure and morphometric analysis of hippocampal synapses in the Fmr1-/y mouse model of fragile X syndrome
… disorders including autism and epilepsy. The Fmr1 gene - transcriptionally silenced in FXS - normally encodes the Fragile X Mental Retardation Protein (FMRP), which acts as an activity dependent translational regulator at the base of dendritic spines. In an attempt to understand its role, …
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Rescue of Fragile X Syndrome phenotypes in Fmr1 KO mice by the small molecule PAK inhibitor FRAX486
… the development of a mouse model of autism. The fmr1 knockout (KO) mouse displays phenotypes similar to symptoms in the human condition - including hyperactivity, repetitive behaviors, and seizures. Humans and mice share not only behavioral expression of the disease, but also analogous …
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Phenotypic And Electrophysiologic Characterization of a Mouse Model of Fragile X Syndrome
… a mutation in the fragile X mental retardation (FMR1) gene on the X chromosome. Many children with FXS exhibit autistic behaviors and deficits in motor coordination including speech articulation deficits. The development of the FMR1 knockout (Fmr1 KO) mouse, in which the Fmr1 gene is inactivated, …
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The Effect of Optimism, Hope, and Religion On Mood and Anxiety Disorders Over Time In Women With the Fmr1 Premutation
<p>The FMR1 premutation is a common genetic condition estimated to occur in 1 of 130-250 females and in 1 in 250-800 males (Hagerman et al., 2009). The FMR1 premutation is caused by a CGG trinucleotide repeat expansion on the FMR1 gene. Though previously thought to pose no risk to the affected …
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An Examination of the Mechanisms of Neocortical Network Excitability in a Mouse Model of Fragile X Syndrome
… loss of function mutations in the product of the Fmr1 gene, the Fragile X Mental Retardation Protein (FMRP). Many FXS patients display symptoms that are indicative of hyperexcitable circuitry, including epilepsy, bursting patterns in their EEG, and sensory hypersensitivity. Similarly, the mouse …
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Experience-Dependent and Input-Specific Regulation of Neocortical Circuit Development by Genes Linked to Neurodevelopmental Disorders
… genes, namely, fragile X mental retardation 1 (Fmr1) and myocyte enhancer factor 2c (Mef2c) in the postnatal experience-dependent development of input-specific synaptic connections. I report that postnatal, cell-autonomous deletion of Fmr1 in postsynaptic L2/3 or L5 neurons results in a …
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Cellular and synaptic pathophysiology in a rat model of Fragile X syndrome
… of a trinucleotide repeat expansion in the Fmr1 gene which leads to loss of the encoded protein, fragile X mental retardation protein (FMRP). Animal model studies over the past twenty years, mainly focusing on the Fmr1 knockout (KO) mouse, have uncovered several cellular and behavioural …
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Synaptic Plasticity in the Cerebral Cortex of Fragile X Knockout Mice
… of the visual cortex was examined in young Fmr1 knockout and wildtype mice. The rate of developmental synaptogenesis between the two genotypes was similar, but Fmr1 knockout mice exhibited levels of synaptic protein synthesis lower than those of wildtype mice. The role of FMRP in …
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Fragile X Mental Retardation Protein Induces Synapse Loss Through Acute Postsynaptic Translational Regulation
… Both human FXS patients and mice lacking FMRP (Fmr1-KO mice) display increased numbers of dendritic spines, the primary sites of excitatory synaptic connections. In addition to increased numbers, the spines of FXS patients and Fmr1-KO mice appear morphologically immature. It was unknown whether …
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Modelling fragile X syndrome in rats: new directions in translational research
… of the fragile X mental retardation gene (FMR1), causing a loss of Fragile-X Mental Retardation Protein (FMRP). Over the last 2 decades, much has been learned about the pathophysiology related to the loss of FMRP from mouse models of FXS. The recent generation of a rat model of FXS opens …
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Ruolo dei recettori 5-HT7 per la serotonina nell'attività mitocondriale e nella fisiopatologia della sindrome del cromosoma X fragile
… Il modello murino della patologia, il topo Fmr1 knock-out (KO), presenta alterazioni nella attività mitocondriale e nella plasticità sinaptica, fra cui una esagerata depressione a lungo termine mediata dall’attivazione dei recettori metabotropi per il glutammato (mGluR-LTD). Il nostro …
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A Study on an FMRP-Mediated Translational Switch in the MGluR-Triggered Translation of Arc and Synaptic Plasticity
… altered in a mouse model of Fragile X Syndrome, Fmr1 knockout (KO) mouse. Fmr1 encodes the Fragile X mental retardation protein (FMRP), a dendritic RNA-binding protein that functions, in part, as a translational suppressor. It is unknown if and how FMRP acutely regulates LTD and/or the rapid …
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Postnatal development of the somatosensory cortex in a rat model of Fragile X Syndrome
… recordings from layer 4 of S1, I found that Fmr1-/y stellate cells (SCs) are hyperexcitable during early development, in agreement with previous research. Thanks to the high temporal resolution of these recordings, I have identified multiple phases of development in Fmr1-/y SCs, with distinct …
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Spontaneous activity in the mouse visual cortical slice: biophysical characterization and pathophysiology
… disorder. FXS is caused by silencing of the FMR1 gene, which results in the loss of fragile X messenger ribonucleoprotein (FMRP), a critical protein in regulating nervous system development and neural circuit function. Due to the loss of FMRP’s canonical role in inhibiting mRNA translation, …
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Examination of the effect of a diet high in vitamin D in a preclinical model of fragile X syndrome.
… of dietary vitamin D (20,000 IU/Kg) to C57BL/6J FMR1 male wildtype and knockout mice. We found that the FMR1 knockout mice had alternations in movement, anxiety, exploratory, learning and memory, and sensory-motor gating behaviors. However, we found no rescue of behavioral impairments of FMR1 …
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Developmental trajectory of synaptic vesicle recycling in wild type and neurodevelopmental disorder mqodels
… in NDD models. First, I tested SV recycling in Fmr1 knockout (KO) neurons which model Fragile X Syndrome, one of the most common monogenic NDDs that shows high comorbidity to autism spectrum disorder (ASD). Fmr1 KO neurons displayed reduced ADBE at DIV 14 compared to neurons from their …
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Somatic expansion of premutation alleles and the role of the mismatch repair and base excision repair proteins on repeat expansion in a mouse model of the fragile X-related disorders
… arise from an unusual mutation in the X-linked FMR1 gene. The mutation involves expansion, or an increase in the number of repeats, in a CGG•CCG repeat tract located in its 5' untranslated region. FMR1 alleles carrying 55-200 repeats are called Premutation (PM) alleles, and cause Fragile X …
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A More General Role for the Fragile X Mental Retardation Protein in Pruning of Both Synaptic and Dendritic Processes
… oxidase staining demonstrated; (2) elevated fmr1 expression in WT males during periods of dendritic development and (3) no anatomical or metabolic abnormalities in cortical barrel dimensions of FraX mice. These observations, of elevated fmr1 expression during dendritic development and normal …
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