FMR1 premutation and full mutation molecular mechanisms related to autism / Randi J. HAGERMAN in Journal of Neurodevelopmental Disorders, 3-3 (September 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-3 (September 2011) . - p.211-24 Titre : FMR1 premutation and full mutation molecular mechanisms related to autism Type de document : Texte imprimé et/ou numérique Auteurs : Randi J. HAGERMAN, Auteur ; J. AU, Auteur ; Paul J. HAGERMAN, Auteur Article en page(s) : p.211-24 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is caused by an expanded CGG repeat (>200 repeats) in the 5' un-translated portion of the fragile X mental retardation 1 gene (FMR1) leading to a deficiency or absence of the FMR1 protein (FMRP). FMRP is an RNA-binding protein that regulates the translation of a number of other genes that are important for synaptic development and plasticity. Furthermore, many of these genes, when mutated, have been linked to autism in the general population, which may explain the high comorbidity that exists between FXS and autism spectrum disorders (ASD). Additionally, premutation repeat expansions (55 to 200 CGG repeats) may also give rise to ASD through a different molecular mechanism that involves a direct toxic effect of FMR1 mRNA. It is believed that RNA toxicity underlies much of the premutation-related involvement, including developmental concerns like autism, as well as neurodegenerative issues with aging such as the fragile X-associated tremor ataxia syndrome (FXTAS). RNA toxicity can also lead to mitochondrial dysfunction, which is common in older premutation carriers both with and without FXTAS. Many of the problems with cellular dysregulation in both premutation and full mutation neurons also parallel the cellular abnormalities that have been documented in idiopathic autism. Research regarding dysregulation of neurotransmitter systems caused by the lack of FMRP in FXS, including metabotropic glutamate receptor 1/5 (mGluR1/5) pathway and GABA pathways, has led to new targeted treatments for FXS. Preliminary evidence suggests that these new targeted treatments will also be beneficial in non-fragile X forms of autism. En ligne : http://dx.doi.org/10.1007/s11689-011-9084-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] FMR1 premutation and full mutation molecular mechanisms related to autism [Texte imprimé et/ou numérique] / Randi J. HAGERMAN, Auteur ; J. AU, Auteur ; Paul J. HAGERMAN, Auteur . - p.211-24. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-3 (September 2011) . - p.211-24 Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is caused by an expanded CGG repeat (>200 repeats) in the 5' un-translated portion of the fragile X mental retardation 1 gene (FMR1) leading to a deficiency or absence of the FMR1 protein (FMRP). FMRP is an RNA-binding protein that regulates the translation of a number of other genes that are important for synaptic development and plasticity. Furthermore, many of these genes, when mutated, have been linked to autism in the general population, which may explain the high comorbidity that exists between FXS and autism spectrum disorders (ASD). Additionally, premutation repeat expansions (55 to 200 CGG repeats) may also give rise to ASD through a different molecular mechanism that involves a direct toxic effect of FMR1 mRNA. It is believed that RNA toxicity underlies much of the premutation-related involvement, including developmental concerns like autism, as well as neurodegenerative issues with aging such as the fragile X-associated tremor ataxia syndrome (FXTAS). RNA toxicity can also lead to mitochondrial dysfunction, which is common in older premutation carriers both with and without FXTAS. Many of the problems with cellular dysregulation in both premutation and full mutation neurons also parallel the cellular abnormalities that have been documented in idiopathic autism. Research regarding dysregulation of neurotransmitter systems caused by the lack of FMRP in FXS, including metabotropic glutamate receptor 1/5 (mGluR1/5) pathway and GABA pathways, has led to new targeted treatments for FXS. Preliminary evidence suggests that these new targeted treatments will also be beneficial in non-fragile X forms of autism. En ligne : http://dx.doi.org/10.1007/s11689-011-9084-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Fragile X and autism: Intertwined at the molecular level leading to targeted treatments / Randi J. HAGERMAN in Molecular Autism, (September 2010)  

Public ISBD [article]  inMolecular Autism > (September 2010) . - 14 p. Titre : Fragile X and autism: Intertwined at the molecular level leading to targeted treatments Type de document : Texte imprimé et/ou numérique Auteurs : Randi J. HAGERMAN, Auteur ; Gry HOEM, Auteur ; Paul J. HAGERMAN, Auteur Année de publication : 2010 Article en page(s) : 14 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is caused by an expanded CGG repeat (> 200 repeats) in the 5' untranslated portion of the fragile mental retardation 1 gene (FMR1), leading to deficiency or absence of the FMR1 protein (FMRP). FMRP is an RNA carrier protein that controls the translation of several other genes that regulate synaptic development and plasticity. Autism occurs in approximately 30% of FXS cases, and pervasive developmental disorder, not otherwise specified (PDD-NOS) occurs in an additional 30% of cases. Premutation repeat expansions (55 to 200 CGG repeats) may also give rise to autism spectrum disorders (ASD), including both autism and PDD-NOS, through a different molecular mechanism that involves a direct toxic effect of the expanded CGG repeat FMR1 mRNA. RNA toxicity can also lead to aging effects including tremor, ataxia and cognitive decline, termed fragile X-associated tremor ataxia syndrome (FXTAS), in premutation carriers in late life. In studies of mice bearing premutation expansions, there is evidence of early postnatal neuronal cell toxicity, presenting as reduced cell longevity, decreased dendritic arborization and altered synaptic morphology. There is also evidence of mitochondrial dysfunction in premutation carriers. Many of the problems with cellular dysregulation in both premutation and full mutation neurons also parallel the cellular abnormalities that have been documented in autism without fragile X mutations. Research regarding dysregulation of neurotransmitter systems in FXS, including the metabotropic glutamate receptor (mGluR)1/5 pathway and γ aminobutyric acid (GABA)A pathways, have led to new targeted treatments for FXS. Preliminary evidence suggests that these new targeted treatments will also be beneficial in non-fragile X forms of autism. En ligne : http://dx.doi.org/10.1186/2040-2392-1-12 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=114 [article] Fragile X and autism: Intertwined at the molecular level leading to targeted treatments [Texte imprimé et/ou numérique] / Randi J. HAGERMAN, Auteur ; Gry HOEM, Auteur ; Paul J. HAGERMAN, Auteur . - 2010 . - 14 p. Langues : Anglais (eng) in Molecular Autism > (September 2010) . - 14 p. Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is caused by an expanded CGG repeat (> 200 repeats) in the 5' untranslated portion of the fragile mental retardation 1 gene (FMR1), leading to deficiency or absence of the FMR1 protein (FMRP). FMRP is an RNA carrier protein that controls the translation of several other genes that regulate synaptic development and plasticity. Autism occurs in approximately 30% of FXS cases, and pervasive developmental disorder, not otherwise specified (PDD-NOS) occurs in an additional 30% of cases. Premutation repeat expansions (55 to 200 CGG repeats) may also give rise to autism spectrum disorders (ASD), including both autism and PDD-NOS, through a different molecular mechanism that involves a direct toxic effect of the expanded CGG repeat FMR1 mRNA. RNA toxicity can also lead to aging effects including tremor, ataxia and cognitive decline, termed fragile X-associated tremor ataxia syndrome (FXTAS), in premutation carriers in late life. In studies of mice bearing premutation expansions, there is evidence of early postnatal neuronal cell toxicity, presenting as reduced cell longevity, decreased dendritic arborization and altered synaptic morphology. There is also evidence of mitochondrial dysfunction in premutation carriers. Many of the problems with cellular dysregulation in both premutation and full mutation neurons also parallel the cellular abnormalities that have been documented in autism without fragile X mutations. Research regarding dysregulation of neurotransmitter systems in FXS, including the metabotropic glutamate receptor (mGluR)1/5 pathway and γ aminobutyric acid (GABA)A pathways, have led to new targeted treatments for FXS. Preliminary evidence suggests that these new targeted treatments will also be beneficial in non-fragile X forms of autism. En ligne : http://dx.doi.org/10.1186/2040-2392-1-12 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=114

Fragile X: A Molecular and Treatment Model for Autism Spectrum Disorders / Randi J. HAGERMAN

Public ISBD in Autism Spectrum Disorders / David G. AMARAL Titre : Fragile X: A Molecular and Treatment Model for Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Randi J. HAGERMAN, Auteur ; Vivien NARCISA, Auteur ; Paul J. HAGERMAN, Auteur Année de publication : 2011 Importance : p.801-811 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139 in Autism Spectrum Disorders / David G. AMARAL Fragile X: A Molecular and Treatment Model for Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Randi J. HAGERMAN, Auteur ; Vivien NARCISA, Auteur ; Paul J. HAGERMAN, Auteur . - 2011 . - p.801-811. Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139

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Fragile x premutation / F. TASSONE in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.22 Titre : Fragile x premutation Type de document : Texte imprimé et/ou numérique Auteurs : F. TASSONE, Auteur ; Paul J. HAGERMAN, Auteur ; Randi J. HAGERMAN, Auteur Article en page(s) : p.22 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, 'premutation' expansions (55 to 200 repeats) are now gaining increasing recognition as the basis for a spectrum of clinical involvement, from neurodevelopmental problems; to mid-adult disorders, such as primary ovarian insufficiency and mood and psychiatric disorders; to the late-adult-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). The premutation disorders are thought to arise through a molecular mechanism involving toxicity of the elevated levels of expanded CGG-repeat mRNA ('RNA toxicity'), a process that is entirely distinct from the FMR1 protein-deficiency that gives rise to FXS. However, despite the importance of the spectrum of clinical disorders associated with the premutation, and a high prevalence rate (1 in 130 to 250 females and 1 in 250 to 810 males), relatively little attention has been paid to these disorders and there is a general lack of awareness among clinicians as to the distinction between the premutation disorders and FXS. To address this lack of awareness, an international conference on the premutation was held in Perugia, Italy, in June 2013. The conference covered the expanding range of clinical involvement, refinements of the assessments and tools for characterizing such involvement, and the rapidly expanding understanding of the pathogenic molecular and cellular mechanisms that give rise to the spectrum of involvement among premutation carriers. All of these advances support ongoing efforts to develop new targeted treatments for the premutation disorders. As an outgrowth of the meeting, papers were solicited from the conference attendees such that groups of scientists and clinicians would develop works that broadly covered the topics of the meeting. The following papers represent that effort. En ligne : http://dx.doi.org/10.1186/1866-1955-6-22 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Fragile x premutation [Texte imprimé et/ou numérique] / F. TASSONE, Auteur ; Paul J. HAGERMAN, Auteur ; Randi J. HAGERMAN, Auteur . - p.22. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.22 Index. décimale : PER Périodiques Résumé : Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, 'premutation' expansions (55 to 200 repeats) are now gaining increasing recognition as the basis for a spectrum of clinical involvement, from neurodevelopmental problems; to mid-adult disorders, such as primary ovarian insufficiency and mood and psychiatric disorders; to the late-adult-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). The premutation disorders are thought to arise through a molecular mechanism involving toxicity of the elevated levels of expanded CGG-repeat mRNA ('RNA toxicity'), a process that is entirely distinct from the FMR1 protein-deficiency that gives rise to FXS. However, despite the importance of the spectrum of clinical disorders associated with the premutation, and a high prevalence rate (1 in 130 to 250 females and 1 in 250 to 810 males), relatively little attention has been paid to these disorders and there is a general lack of awareness among clinicians as to the distinction between the premutation disorders and FXS. To address this lack of awareness, an international conference on the premutation was held in Perugia, Italy, in June 2013. The conference covered the expanding range of clinical involvement, refinements of the assessments and tools for characterizing such involvement, and the rapidly expanding understanding of the pathogenic molecular and cellular mechanisms that give rise to the spectrum of involvement among premutation carriers. All of these advances support ongoing efforts to develop new targeted treatments for the premutation disorders. As an outgrowth of the meeting, papers were solicited from the conference attendees such that groups of scientists and clinicians would develop works that broadly covered the topics of the meeting. The following papers represent that effort. En ligne : http://dx.doi.org/10.1186/1866-1955-6-22 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

Fragile X syndrome / Randi J. HAGERMAN

Public ISBD contenu dans Outcomes in Neurodevelopmental and Genetic Disorders / Patricia HOWLIN Titre : Fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Randi J. HAGERMAN, Auteur ; Paul J. HAGERMAN, Auteur Année de publication : 2002 Importance : p.198-219 Langues : Anglais (eng) Mots-clés : Caractéristiques physiques Index. décimale : SCI-B SCI-B - Génétique Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=201 contenu dans Outcomes in Neurodevelopmental and Genetic Disorders / Patricia HOWLIN Fragile X syndrome [Texte imprimé et/ou numérique] / Randi J. HAGERMAN, Auteur ; Paul J. HAGERMAN, Auteur . - 2002 . - p.198-219. Langues : Anglais (eng) Mots-clés : Caractéristiques physiques Index. décimale : SCI-B SCI-B - Génétique Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=201

Exemplaires

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Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome / Claudia M. GRECO in Molecular Autism, (February 2011)  

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