From wings to whiskers to stem cells: why every model matters in fragile X syndrome research / Soraya O. SANDOVAL in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : From wings to whiskers to stem cells: why every model matters in fragile X syndrome research Type de document : texte imprimé Auteurs : Soraya O. SANDOVAL, Auteur ; Natasha M. MÉNDEZ-ALBELO, Auteur ; Zhiyan XU, Auteur ; Xinyu ZHAO, Auteur Langues : Anglais (eng) Mots-clés : Animals  Humans  Disease Models, Animal  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/genetics/physiopathology  Pluripotent Stem Cells  Drosophila  Fmr1  Fmrp  Fragile X syndrome  Human  Mouse  Neuron  Organoid  Stem cells  iPSCs Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP). It is the most prevalent inherited form of intellectual disability and the highest single genetic cause of autism. Since the discovery of the genetic basis of FXS, extensive studies using animal models and human pluripotent stem cells have unveiled the functions of FMRP and mechanisms underlying FXS. However, clinical trials have not yielded successful treatment. Here we review what we have learned from commonly used models for FXS, potential limitations of these models, and recommendations for future steps. En ligne : https://dx.doi.org/10.1186/s11689-024-09545-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] From wings to whiskers to stem cells: why every model matters in fragile X syndrome research [texte imprimé] / Soraya O. SANDOVAL, Auteur ; Natasha M. MÉNDEZ-ALBELO, Auteur ; Zhiyan XU, Auteur ; Xinyu ZHAO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Animals  Humans  Disease Models, Animal  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/genetics/physiopathology  Pluripotent Stem Cells  Drosophila  Fmr1  Fmrp  Fragile X syndrome  Human  Mouse  Neuron  Organoid  Stem cells  iPSCs Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP). It is the most prevalent inherited form of intellectual disability and the highest single genetic cause of autism. Since the discovery of the genetic basis of FXS, extensive studies using animal models and human pluripotent stem cells have unveiled the functions of FMRP and mechanisms underlying FXS. However, clinical trials have not yielded successful treatment. Here we review what we have learned from commonly used models for FXS, potential limitations of these models, and recommendations for future steps. En ligne : https://dx.doi.org/10.1186/s11689-024-09545-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

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