Beyond Widespread Mecp2 Deletions to Model Rett Syndrome: Conditional Spatio-Temporal Knockout, Single-Point Mutations and Transgenic Rescue Mice / Wei LI in Autism - Open Access, 2-S ([01/12/2012])  

Public ISBD [article]  inAutism - Open Access > 2-S [01/12/2012] . - 7 p. Titre : Beyond Widespread Mecp2 Deletions to Model Rett Syndrome: Conditional Spatio-Temporal Knockout, Single-Point Mutations and Transgenic Rescue Mice Type de document : texte imprimé Auteurs : Wei LI, Auteur ; Lucas POZZO-MILLER, Auteur Article en page(s) : 7 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is one of the leading causes of intellectual disabilities in women. In addition to a few autistic features, characteristic symptoms that distinguish from classical autism include stereotypic hand movements, motor coordination deficits, breathing abnormalities, seizures and loss of acquired speech as well as purposeful hand use. RTT is highly associated with MECP2, the gene encoding for the transcription factor that binds methylated Cytosine in C-p-G islands in DNA, controlling gene expression and chromatin remodeling. In this review, we will briefly discuss current perspectives on MeCP2 function, and then will describe in detail novel mouse models of RTT based on loss-of-function of Mecp2 and their use for establishing rescue models, wherein we pay close attention to behavioral and morphological phenotypes. En ligne : https://dx.doi.org/10.4172/2165-7890.S1-005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 [article] Beyond Widespread Mecp2 Deletions to Model Rett Syndrome: Conditional Spatio-Temporal Knockout, Single-Point Mutations and Transgenic Rescue Mice [texte imprimé] / Wei LI, Auteur ; Lucas POZZO-MILLER, Auteur . - 7 p. Langues : Anglais (eng) in Autism - Open Access > 2-S [01/12/2012] . - 7 p. Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is one of the leading causes of intellectual disabilities in women. In addition to a few autistic features, characteristic symptoms that distinguish from classical autism include stereotypic hand movements, motor coordination deficits, breathing abnormalities, seizures and loss of acquired speech as well as purposeful hand use. RTT is highly associated with MECP2, the gene encoding for the transcription factor that binds methylated Cytosine in C-p-G islands in DNA, controlling gene expression and chromatin remodeling. In this review, we will briefly discuss current perspectives on MeCP2 function, and then will describe in detail novel mouse models of RTT based on loss-of-function of Mecp2 and their use for establishing rescue models, wherein we pay close attention to behavioral and morphological phenotypes. En ligne : https://dx.doi.org/10.4172/2165-7890.S1-005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409

Commentary: Childhood chronic neurodevelopmental disorders and the crisis of misaligned research funding / Daniel B. CAMPBELL in Research in Autism, 128 (October 2025)  

Public ISBD [article]  inResearch in Autism > 128 (October 2025) . - p.202715 Titre : Commentary: Childhood chronic neurodevelopmental disorders and the crisis of misaligned research funding Type de document : texte imprimé Auteurs : Daniel B. CAMPBELL, Auteur ; Lucas POZZO-MILLER, Auteur ; Jeremy W. PROKOP, Auteur Article en page(s) : p.202715 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://doi.org/10.1016/j.reia.2025.202715 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=570 [article] Commentary: Childhood chronic neurodevelopmental disorders and the crisis of misaligned research funding [texte imprimé] / Daniel B. CAMPBELL, Auteur ; Lucas POZZO-MILLER, Auteur ; Jeremy W. PROKOP, Auteur . - p.202715. Langues : Anglais (eng) in Research in Autism > 128 (October 2025) . - p.202715 Index. décimale : PER Périodiques En ligne : https://doi.org/10.1016/j.reia.2025.202715 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=570

Modulation of dendritic spine development and plasticity by BDNF and vesicular trafficking: fundamental roles in neurodevelopmental disorders associated with mental retardation and autism / Christopher A. CHAPLEAU in Journal of Neurodevelopmental Disorders, 1-3 (September 2009)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 1-3 (September 2009) . - p.185-96 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 Auteurs : Christopher A. CHAPLEAU, Auteur ; Jennifer L. LARIMORE, Auteur ; Anne THEIBERT, Auteur ; Lucas 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 [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] / Christopher A. CHAPLEAU, Auteur ; Jennifer L. LARIMORE, Auteur ; Anne THEIBERT, Auteur ; Lucas 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

Rett syndrome: On Clinical and Genetic Features, and Experimental Models based on Mecp2 dysfunction / Gaston CALFA

Public ISBD in The Autisms / Craig M. POWELL Titre : Rett syndrome: On Clinical and Genetic Features, and Experimental Models based on Mecp2 dysfunction Type de document : texte imprimé Auteurs : Gaston CALFA, Auteur ; Alan K. PERCY, Auteur ; Lucas POZZO-MILLER, Auteur Année de publication : 2013 Importance : p.57-90 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 in The Autisms / Craig M. POWELL Rett syndrome: On Clinical and Genetic Features, and Experimental Models based on Mecp2 dysfunction [texte imprimé] / Gaston CALFA, Auteur ; Alan K. PERCY, Auteur ; Lucas POZZO-MILLER, Auteur . - 2013 . - p.57-90. Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189

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