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Modulation of dendritic spine development and plasticity by BDNF and vesicular trafficking: fundamental roles in neurodevelopmental disorders associated with mental retardation and autism / C. A. CHAPLEAU in Journal of Neurodevelopmental Disorders, 1-3 (September 2009)
[article]
Titre : Modulation of dendritic spine development and plasticity by BDNF and vesicular trafficking: fundamental roles in neurodevelopmental disorders associated with mental retardation and autism Type de document : Texte imprimé et/ou numérique Auteurs : C. A. CHAPLEAU, Auteur ; J. L. LARIMORE, Auteur ; A. THEIBERT, Auteur ; L. POZZO-MILLER, Auteur Article en page(s) : p.185-96 Langues : Anglais (eng) Mots-clés : Autism Bdnf Dendritic spine Hippocampus Mental retardation Pyramidal neuron Rett syndrome Vesicle trafficking Index. décimale : PER Périodiques Résumé : The process of axonal and dendritic development establishes the synaptic circuitry of the central nervous system (CNS) and is the result of interactions between intrinsic molecular factors and the external environment. One growth factor that has a compelling function in neuronal development is the neurotrophin brain-derived neurotrophic factor (BDNF). BDNF participates in axonal and dendritic differentiation during embryonic stages of neuronal development, as well as in the formation and maturation of dendritic spines during postnatal development. Recent studies have also implicated vesicular trafficking of BDNF via secretory vesicles, and both secretory and endosomal trafficking of vesicles containing synaptic proteins, such as neurotransmitter and neurotrophin receptors, in the regulation of axonal and dendritic differentiation, and in dendritic spine morphogenesis. Several genes that are either mutated or deregulated in neurodevelopmental disorders associated with mental retardation have now been identified, and several mouse models of these disorders have been generated and characterized. Interestingly, abnormalities in dendritic and synaptic structure are consistently observed in human neurodevelopmental disorders associated with mental retardation, and in mouse models of these disorders as well. Abnormalities in dendritic and synaptic differentiation are thought to underlie altered synaptic function and network connectivity, thus contributing to the clinical outcome. Here, we review the roles of BDNF and vesicular trafficking in axonal and dendritic differentiation in the context of dendritic and axonal morphological impairments commonly observed in neurodevelopmental disorders associated with mental retardation. En ligne : http://dx.doi.org/10.1007/s11689-009-9027-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341
in Journal of Neurodevelopmental Disorders > 1-3 (September 2009) . - p.185-96[article] Modulation of dendritic spine development and plasticity by BDNF and vesicular trafficking: fundamental roles in neurodevelopmental disorders associated with mental retardation and autism [Texte imprimé et/ou numérique] / C. A. CHAPLEAU, Auteur ; J. L. LARIMORE, Auteur ; A. THEIBERT, Auteur ; L. POZZO-MILLER, Auteur . - p.185-96.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 1-3 (September 2009) . - p.185-96
Mots-clés : Autism Bdnf Dendritic spine Hippocampus Mental retardation Pyramidal neuron Rett syndrome Vesicle trafficking Index. décimale : PER Périodiques Résumé : The process of axonal and dendritic development establishes the synaptic circuitry of the central nervous system (CNS) and is the result of interactions between intrinsic molecular factors and the external environment. One growth factor that has a compelling function in neuronal development is the neurotrophin brain-derived neurotrophic factor (BDNF). BDNF participates in axonal and dendritic differentiation during embryonic stages of neuronal development, as well as in the formation and maturation of dendritic spines during postnatal development. Recent studies have also implicated vesicular trafficking of BDNF via secretory vesicles, and both secretory and endosomal trafficking of vesicles containing synaptic proteins, such as neurotransmitter and neurotrophin receptors, in the regulation of axonal and dendritic differentiation, and in dendritic spine morphogenesis. Several genes that are either mutated or deregulated in neurodevelopmental disorders associated with mental retardation have now been identified, and several mouse models of these disorders have been generated and characterized. Interestingly, abnormalities in dendritic and synaptic structure are consistently observed in human neurodevelopmental disorders associated with mental retardation, and in mouse models of these disorders as well. Abnormalities in dendritic and synaptic differentiation are thought to underlie altered synaptic function and network connectivity, thus contributing to the clinical outcome. Here, we review the roles of BDNF and vesicular trafficking in axonal and dendritic differentiation in the context of dendritic and axonal morphological impairments commonly observed in neurodevelopmental disorders associated with mental retardation. En ligne : http://dx.doi.org/10.1007/s11689-009-9027-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341 Analysis of Fmr1 Deletion in a Subpopulation of Post-Mitotic Neurons in Mouse Cortex and Hippocampus / Anahita AMIRI in Autism Research, 7-1 (February 2014)
[article]
Titre : Analysis of Fmr1 Deletion in a Subpopulation of Post-Mitotic Neurons in Mouse Cortex and Hippocampus Type de document : Texte imprimé et/ou numérique Auteurs : Anahita AMIRI, Auteur ; Efrain SANCHEZ-ORTIZ, Auteur ; Woosung CHO, Auteur ; Shari G. BIRNBAUM, Auteur ; Jing XU, Auteur ; Renée M. MCKAY, Auteur ; Luis F. PARADA, Auteur Article en page(s) : p.60-71 Langues : Anglais (eng) Mots-clés : Fragile X Syndrome Fmr1 autism mental retardation Nse-Cre synaptic plasticity Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common form of inherited mental retardation and the leading cause of autism. FXS is caused by mutation in a single gene, FMR1, which encodes an RNA-binding protein FMRP. FMRP is highly expressed in neurons and is hypothesized to have a role in synaptic structure, function, and plasticity by regulating mRNAs that encode pre- and post-synaptic proteins. Fmr1 knockout (KO) mice have been used as a model to study FXS. These mice have been reported to show a great degree of phenotypic variability based on the genetic background, environmental signals, and experimental methods. In this study, we sought to restrict FMRP deletion to two brain regions that have been implicated in FXS and autism. We show that ablating Fmr1 in differentiated neurons of hippocampus and cortex results in dendritic alterations and changes in synaptic marker intensity that are brain region specific. In our conditional mutant mice, FMRP-deleted neurons have activated AKT-mTOR pathway signaling in hippocampus but display no apparent behavioral phenotypes. These results highlight the importance of identifying additional factors that interact with Fmr1 to develop FXS. En ligne : http://dx.doi.org/10.1002/aur.1342 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227
in Autism Research > 7-1 (February 2014) . - p.60-71[article] Analysis of Fmr1 Deletion in a Subpopulation of Post-Mitotic Neurons in Mouse Cortex and Hippocampus [Texte imprimé et/ou numérique] / Anahita AMIRI, Auteur ; Efrain SANCHEZ-ORTIZ, Auteur ; Woosung CHO, Auteur ; Shari G. BIRNBAUM, Auteur ; Jing XU, Auteur ; Renée M. MCKAY, Auteur ; Luis F. PARADA, Auteur . - p.60-71.
Langues : Anglais (eng)
in Autism Research > 7-1 (February 2014) . - p.60-71
Mots-clés : Fragile X Syndrome Fmr1 autism mental retardation Nse-Cre synaptic plasticity Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common form of inherited mental retardation and the leading cause of autism. FXS is caused by mutation in a single gene, FMR1, which encodes an RNA-binding protein FMRP. FMRP is highly expressed in neurons and is hypothesized to have a role in synaptic structure, function, and plasticity by regulating mRNAs that encode pre- and post-synaptic proteins. Fmr1 knockout (KO) mice have been used as a model to study FXS. These mice have been reported to show a great degree of phenotypic variability based on the genetic background, environmental signals, and experimental methods. In this study, we sought to restrict FMRP deletion to two brain regions that have been implicated in FXS and autism. We show that ablating Fmr1 in differentiated neurons of hippocampus and cortex results in dendritic alterations and changes in synaptic marker intensity that are brain region specific. In our conditional mutant mice, FMRP-deleted neurons have activated AKT-mTOR pathway signaling in hippocampus but display no apparent behavioral phenotypes. These results highlight the importance of identifying additional factors that interact with Fmr1 to develop FXS. En ligne : http://dx.doi.org/10.1002/aur.1342 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227 Children with Disabilities are Often Misdiagnosed Initially and Children with Neuropsychiatric Disorders are Referred to Adequate Resources 30 Months Later Than Children with Other Disabilities / Alli-Marie TUOMINEN-ERIKSSON in Journal of Autism and Developmental Disorders, 43-3 (March 2013)
[article]
Titre : Children with Disabilities are Often Misdiagnosed Initially and Children with Neuropsychiatric Disorders are Referred to Adequate Resources 30 Months Later Than Children with Other Disabilities Type de document : Texte imprimé et/ou numérique Auteurs : Alli-Marie TUOMINEN-ERIKSSON, Auteur ; Yvonne SVENSSON, Auteur ; Ronny .K GUNNARSSON, Auteur Article en page(s) : p.579-584 Langues : Anglais (eng) Mots-clés : Asperger syndrome Attention deficit disorder with hyperactivity Autistic disorder Early diagnoses Referral and consultation Mental retardation Index. décimale : PER Périodiques Résumé : Disabilities in a child may lead to low self-esteem and social problems. The lives of parents and siblings are also affected. Early intervention may decrease these consequences. To promote early intervention early referral to adequate resources is essential. In a longitudinal retrospective observational study it was found that children with neuropsychiatric disorders without mental retardation were referred 30 months later than other children. Agreement between the referrer’s identification of the main disability and the habilitation center’s was low with Kappa coefficient 0.44. Whereby agreement on diagnosis between referrer and habilitation centers was low, earlier referral should be promoted. En ligne : http://dx.doi.org/10.1007/s10803-012-1595-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192
in Journal of Autism and Developmental Disorders > 43-3 (March 2013) . - p.579-584[article] Children with Disabilities are Often Misdiagnosed Initially and Children with Neuropsychiatric Disorders are Referred to Adequate Resources 30 Months Later Than Children with Other Disabilities [Texte imprimé et/ou numérique] / Alli-Marie TUOMINEN-ERIKSSON, Auteur ; Yvonne SVENSSON, Auteur ; Ronny .K GUNNARSSON, Auteur . - p.579-584.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 43-3 (March 2013) . - p.579-584
Mots-clés : Asperger syndrome Attention deficit disorder with hyperactivity Autistic disorder Early diagnoses Referral and consultation Mental retardation Index. décimale : PER Périodiques Résumé : Disabilities in a child may lead to low self-esteem and social problems. The lives of parents and siblings are also affected. Early intervention may decrease these consequences. To promote early intervention early referral to adequate resources is essential. In a longitudinal retrospective observational study it was found that children with neuropsychiatric disorders without mental retardation were referred 30 months later than other children. Agreement between the referrer’s identification of the main disability and the habilitation center’s was low with Kappa coefficient 0.44. Whereby agreement on diagnosis between referrer and habilitation centers was low, earlier referral should be promoted. En ligne : http://dx.doi.org/10.1007/s10803-012-1595-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192 Anxiety disorders in children with williams syndrome, their mothers, and their siblings: implications for the etiology of anxiety disorders / O. LEYFER in Journal of Neurodevelopmental Disorders, 1-1 (March 2009)
[article]
Titre : Anxiety disorders in children with williams syndrome, their mothers, and their siblings: implications for the etiology of anxiety disorders Type de document : Texte imprimé et/ou numérique Auteurs : O. LEYFER, Auteur ; J. WOODRUFF-BORDEN, Auteur ; C. B. MERVIS, Auteur Article en page(s) : p.4-14 Langues : Anglais (eng) Mots-clés : Anxiety Family Genetics Intellectual disability Mental retardation Williams syndrome Index. décimale : PER Périodiques Résumé : PURPOSE: To determine the prevalence of anxiety disorders in children with Williams syndrome (WS), their sibling closest in age, and their mothers and to examine the predictors of anxiety in these groups. METHODS: The prevalence of anxiety disorders was assessed and compared to that in the general population. RESULTS: Children with WS had a significantly higher prevalence of specific phobia, generalized anxiety disorder (GAD), and separation anxiety in comparison to children in the general population. While mothers had a higher prevalence of GAD than population controls, the excess was accounted for by mothers who had onset after the birth of their WS child. The siblings had rates similar to the general population. CONCLUSIONS: This pattern of findings suggests the presence of a gene in the WS region whose deletion predisposes to anxiety disorders. It is also worthwhile to investigate relations between genes deleted in WS and genes previously implicated in anxiety disorders. En ligne : http://dx.doi.org/10.1007/s11689-009-9003-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341
in Journal of Neurodevelopmental Disorders > 1-1 (March 2009) . - p.4-14[article] Anxiety disorders in children with williams syndrome, their mothers, and their siblings: implications for the etiology of anxiety disorders [Texte imprimé et/ou numérique] / O. LEYFER, Auteur ; J. WOODRUFF-BORDEN, Auteur ; C. B. MERVIS, Auteur . - p.4-14.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 1-1 (March 2009) . - p.4-14
Mots-clés : Anxiety Family Genetics Intellectual disability Mental retardation Williams syndrome Index. décimale : PER Périodiques Résumé : PURPOSE: To determine the prevalence of anxiety disorders in children with Williams syndrome (WS), their sibling closest in age, and their mothers and to examine the predictors of anxiety in these groups. METHODS: The prevalence of anxiety disorders was assessed and compared to that in the general population. RESULTS: Children with WS had a significantly higher prevalence of specific phobia, generalized anxiety disorder (GAD), and separation anxiety in comparison to children in the general population. While mothers had a higher prevalence of GAD than population controls, the excess was accounted for by mothers who had onset after the birth of their WS child. The siblings had rates similar to the general population. CONCLUSIONS: This pattern of findings suggests the presence of a gene in the WS region whose deletion predisposes to anxiety disorders. It is also worthwhile to investigate relations between genes deleted in WS and genes previously implicated in anxiety disorders. En ligne : http://dx.doi.org/10.1007/s11689-009-9003-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341 Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression / Emily L. CASANOVA in Molecular Autism, 7 (2016)
[article]
Titre : Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression Type de document : Texte imprimé et/ou numérique Auteurs : Emily L. CASANOVA, Auteur ; J. L. SHARP, Auteur ; H. CHAKRABORTY, Auteur ; N. S. SUMI, Auteur ; Manuel F. CASANOVA, Auteur Article en page(s) : 18p. Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/epidemiology/genetics/psychology Autistic Disorder/epidemiology/genetics/psychology Body Patterning/genetics Cell Nucleus/metabolism Chromatin Assembly and Disassembly/genetics Comorbidity Databases, Genetic Epigenomics Epilepsy/epidemiology/genetics/psychology Gene Expression Regulation Gene Ontology Genetic Association Studies Humans Intellectual Disability/epidemiology/genetics Nerve Tissue Proteins/genetics/physiology Neurogenesis/genetics Nuclear Proteins/genetics/physiology Penetrance Protein Interaction Maps/genetics Risk Syndrome Body patterning Chromatin assembly and disassembly Epilepsy Mental retardation Regulation of gene expression Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual disability (ID), autism, and epilepsy share frequent yet variable comorbidities with one another. In order to better understand potential genetic divergence underlying this variable risk, we studied genes responsible for monogenic IDs, grouped according to their autism and epilepsy comorbidities. METHODS: Utilizing 465 different forms of ID with known molecular origins, we accessed available genetic databases in conjunction with gene ontology (GO) to determine whether the genetics underlying ID diverge according to its comorbidities with autism and epilepsy and if genes highly penetrant for autism or epilepsy share distinctive features that set them apart from genes that confer comparatively variable or no apparent risk. RESULTS: The genetics of ID with autism are relatively enriched in terms associated with nervous system-specific processes and structural morphogenesis. In contrast, we find that ID with highly comorbid epilepsy (HCE) is modestly associated with lipid metabolic processes while ID without autism or epilepsy comorbidity (ID only) is enriched at the Golgi membrane. Highly comorbid autism (HCA) genes, on the other hand, are strongly enriched within the nucleus, are typically involved in regulation of gene expression, and, along with IDs with more variable autism, share strong ties with a core protein-protein interaction (PPI) network integral to basic patterning of the CNS. CONCLUSIONS: According to GO terminology, autism-related gene products are integral to neural development. While it is difficult to draw firm conclusions regarding IDs unassociated with autism, it is clear that the majority of HCA genes are tightly linked with general dysregulation of gene expression, suggesting that disturbances to the chronology of neural maturation and patterning may be key in conferring susceptibility to autism spectrum conditions. En ligne : http://dx.doi.org/10.1186/s13229-016-0082-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328
in Molecular Autism > 7 (2016) . - 18p.[article] Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression [Texte imprimé et/ou numérique] / Emily L. CASANOVA, Auteur ; J. L. SHARP, Auteur ; H. CHAKRABORTY, Auteur ; N. S. SUMI, Auteur ; Manuel F. CASANOVA, Auteur . - 18p.
Langues : Anglais (eng)
in Molecular Autism > 7 (2016) . - 18p.
Mots-clés : Autism Spectrum Disorder/epidemiology/genetics/psychology Autistic Disorder/epidemiology/genetics/psychology Body Patterning/genetics Cell Nucleus/metabolism Chromatin Assembly and Disassembly/genetics Comorbidity Databases, Genetic Epigenomics Epilepsy/epidemiology/genetics/psychology Gene Expression Regulation Gene Ontology Genetic Association Studies Humans Intellectual Disability/epidemiology/genetics Nerve Tissue Proteins/genetics/physiology Neurogenesis/genetics Nuclear Proteins/genetics/physiology Penetrance Protein Interaction Maps/genetics Risk Syndrome Body patterning Chromatin assembly and disassembly Epilepsy Mental retardation Regulation of gene expression Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual disability (ID), autism, and epilepsy share frequent yet variable comorbidities with one another. In order to better understand potential genetic divergence underlying this variable risk, we studied genes responsible for monogenic IDs, grouped according to their autism and epilepsy comorbidities. METHODS: Utilizing 465 different forms of ID with known molecular origins, we accessed available genetic databases in conjunction with gene ontology (GO) to determine whether the genetics underlying ID diverge according to its comorbidities with autism and epilepsy and if genes highly penetrant for autism or epilepsy share distinctive features that set them apart from genes that confer comparatively variable or no apparent risk. RESULTS: The genetics of ID with autism are relatively enriched in terms associated with nervous system-specific processes and structural morphogenesis. In contrast, we find that ID with highly comorbid epilepsy (HCE) is modestly associated with lipid metabolic processes while ID without autism or epilepsy comorbidity (ID only) is enriched at the Golgi membrane. Highly comorbid autism (HCA) genes, on the other hand, are strongly enriched within the nucleus, are typically involved in regulation of gene expression, and, along with IDs with more variable autism, share strong ties with a core protein-protein interaction (PPI) network integral to basic patterning of the CNS. CONCLUSIONS: According to GO terminology, autism-related gene products are integral to neural development. While it is difficult to draw firm conclusions regarding IDs unassociated with autism, it is clear that the majority of HCA genes are tightly linked with general dysregulation of gene expression, suggesting that disturbances to the chronology of neural maturation and patterning may be key in conferring susceptibility to autism spectrum conditions. En ligne : http://dx.doi.org/10.1186/s13229-016-0082-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328 Randomized controlled double-blind trial of optimal dose methylphenidate in children and adolescents with severe attention deficit hyperactivity disorder and intellectual disability / Emily SIMONOFF in Journal of Child Psychology and Psychiatry, 54-5 (May 2013)
PermalinkA solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome / D. HESSL in Journal of Neurodevelopmental Disorders, 1-1 (March 2009)
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