Category Archives: Fragile X and RETT

FMRP, FXR1 protein and Dlg4 mRNA, which are associated with fragile X syndrome, are involved in the ubiquitin–proteasome system

FMRP, FXR1 protein and Dlg4 mRNA, which are associated with fragile X syndrome, are involved in the ubiquitin–proteasome system

By Hideo Shimizu, and Hirohiko Hohjoh Excerpt from the article published in Scientific Reports 13, 1956, 02 February 2023, DOI: https://doi.org/10.1038/s41598-023-29152-4 Editor’s Highlights Abstract The ubiquitin–proteasome system (UPS) is a proteolytic pathway that is essential for life maintenance and vital functions, and its disruption causes serious impairments, e.g., disease development. Thus, the UPS is properly regulated. Here […]

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FMR1 deletion in rats induces hyperactivity with no changes in striatal dopamine transporter availability

FMR1 deletion in rats induces hyperactivity with no changes in striatal dopamine transporter availability

By Annunziata D’Elia, Sara Schiavi, Antonia Manduca, Alessandro Rava, Valeria Buzzelli, Fabrizio Ascone, Tiziana Orsini, Sabrina Putti, Andrea Soluri, Filippo Galli, Alessandro Soluri, Maurizio Mattei, Rosella Cicconi, Roberto Massari, and Viviana Trezza Excerpt from the article published in Scientific Reports 12, 22535, 29 December 2022. DOI: https://doi.org/10.1038/s41598-022-26986-2 Editor’s Highlights Abstract Autism Spectrum Disorder (ASD) is a […]

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Excessive proteostasis contributes to pathology in fragile X syndrome

Excessive proteostasis contributes to pathology in fragile X syndrome

By Susana R. Louros, Sang S. Seo, Beatriz Maio, Cristina Martinez-Gonzalez, Miguel A. Gonzalez-Lozano, Melania Muscas, Nick C. Verity, Jimi C. Wills, Ka Wan Li, Matthew F. Nolan, and Emily K. Osterweil Excerpt from the article published in Neuron, 9 December 2022, ISSN 0896-6273,DOI: https://doi.org/10.1016/j.neuron.2022.11.012. Editor’s Highlights Authors’ Highlights Summary In fragile X syndrome (FX), […]

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The regulatory role of endoplasmic reticulum chaperone proteins in neurodevelopment

The regulatory role of endoplasmic reticulum chaperone proteins in neurodevelopment

By Hongji Sun, Mengxue Wu, Minxin Wang, Xiaomin Zhang, and Jia Zhu Excerpt from the article published in Frontiers of Neuroscience, 15 November 2022, Sec. Neurodevelopment, DOI: https://doi.org/10.3389/fnins.2022.1032607 Editor’s Highlights Abstract The endoplasmic reticulum (ER) is the largest tubular reticular organelle spanning the cell. As the main site of protein synthesis, Ca2+ homeostasis maintenance and lipid […]

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Molecular Signatures of Response to Mecasermin in Children With Rett Syndrome

Molecular Signatures of Response to Mecasermin in Children With Rett Syndrome

By Stephen Shovlin, Chloe Delepine, Lindsay Swanson, Snow Bach, Mustafa Sahin, Mriganka Sur, Walter E. Kaufmann, and Daniela Tropea Excerpt from the article published in Frontiers in Neuroscience, volume 16, 31 May 2022, DOI: https://doi.org/10.3389/fnins.2022.868008 Editor’s Highlights Rett syndrome (RTT) is a devastating neurodevelopmental disorder without effective treatments. Rett syndrome is usually associated with a pathogenic […]

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Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions

Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions

By Snow Bach, Stephen Shovlin, Michael Moriarty, Barbara Bardoni, and Daniela Tropea Excerpt from the article published in Frontiers in Cellular Neuroscience, volume 15. 19 November 2021 Doi: https://doi.org/10.3389/fncel.2021.764761 Editor’s Highlights Abstract Rett syndrome (RTT) and Fragile X syndrome (FXS) are two monogenetic neurodevelopmental disorders with complex clinical presentations. RTT is caused by mutations in the […]

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Fragile X mental retardation protein (FMRP) and metabotropic glutamate receptor subtype 5 (mGlu5) control stress granule formation in astrocytes

Fragile X mental retardation protein (FMRP) and metabotropic glutamate receptor subtype 5 (mGlu5) control stress granule formation in astrocytes

By B. Di Marco, P. Dell’Albani, S. D’Antoni, M. Spatuzza, C.M. Bonaccorso, S.A. Musumeci, F. Drago, B. Bardoni, and M.V. Catania Excerpt from the article published in Neurobiology of Disease, Volume 154, 2021, Doi: https://doi.org/10.1016/j.nbd.2021.105338. Editor’s Highlights Fragile X syndrome (FXS) is a common form of intellectual disability and autism caused by the lack of Fragile X Mental Retardation […]

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Regulation of membrane NMDA receptors by dynamics and protein interactions

Regulation of membrane NMDA receptors by dynamics and protein interactions

By Mar Petit-Pedrol and Laurent Groc Excerpt from the article published in Journal of Cell Biology 4 January 2021; 220 (1): e202006101. doi: https://doi.org/10.1083/jcb.202006101 Editor’s Highlights The N-methyl-D-aspartate receptors (NMDARs) are ionotropic glutamate receptors whose activation and calcium permeability play central roles in glutamate synapse physiology. NMDARs form protein–protein interactions with several transmembrane neurotransmitter receptors and ion channels […]

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Fragile-X Syndrome Is Associated With NMDA Receptor Hypofunction and Reduced Dendritic Complexity in Mature Dentate Granule Cells

Fragile-X Syndrome Is Associated With NMDA Receptor Hypofunction and Reduced Dendritic Complexity in Mature Dentate Granule Cells

By Suk-Yu Yau, Luis Bettio, Jason Chiu, ChristineChiu, and Brian R. Christie TITLE=Fragile-X Syndrome Is Associated With NMDA Receptor Hypofunction and Reduced Dendritic Complexity in Mature Dentate Granule Cells Excerpt from the article published in Frontiers in Molecular Neuroscience, volume 11, 17 January 2019 Doi: https://doi.org/10.3389/fnmol.2018.00495 Editor’s Highlights N-methyl-D-aspartate receptors (NMDAR) hypofunction in the hippocampal dentate gyrus […]

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