[HTML][HTML] Directly reprogrammed fragile X syndrome dorsal forebrain precursor cells generate cortical neurons exhibiting impaired neuronal maturation

N Edwards, C Combrinck…�- Frontiers in Cellular�…, 2023 - frontiersin.org
Introduction The neurodevelopmental disorder fragile X syndrome (FXS) is the most
common monogenic cause of intellectual disability associated with autism spectrum�…

Early postnatal development of the MDGA2+/-mouse model of synaptic dysfunction

E Fertan, AA Wong, TS Garvock-de Montbrun…�- Behavioural Brain�…, 2023 - Elsevier
Synaptic dysfunction underlies many neurodevelopmental disorders (NDDs). The
membrane-associated mucin domain-containing glycosylphosphatidylinositol anchor�…

Hyperexcitability in the olfactory bulb and impaired fine odor discrimination in the Fmr1 KO mouse model of fragile X syndrome

P Kuruppath, L Xue, F Pouille, ST Jones…�- Journal of�…, 2023 - Soc Neuroscience
Fragile X syndrome (FXS) is the single most common monogenetic cause of autism
spectrum disorders (ASDs) in humans. FXS is caused by loss of expression of the fragile X�…

[HTML][HTML] Adenosine A2A receptor inhibition reduces synaptic and cognitive hippocampal alterations in Fmr1 KO mice

A Ferrante, Z Boussadia, A Borreca, C Mallozzi…�- Translational�…, 2021 - nature.com
In fragile X syndrome (FXS) the lack of the fragile X mental retardation protein (FMRP) leads
to exacerbated signaling through the metabotropic glutamate receptors 5 (mGlu5Rs). The�…

[HTML][HTML] RNA-Binding Proteins: A Role in Neurotoxicity?

A Ochar�n-Mercado, J Loaeza-Loaeza…�- Neurotoxicity�…, 2023 - Springer
Despite sustained efforts to treat neurodegenerative diseases, little is known at the
molecular level to understand and generate novel therapeutic approaches for these�…

Early environmental enrichment for autism spectrum disorder Fmr1 mice models has positive behavioral and molecular effects

Y Chen, S Zhang, C Yue, P Xiang, J Li, Z Wei, L Xu…�- Experimental�…, 2022 - Elsevier
Autism spectrum disorder is a complex neurodevelopmental condition with genetic and
phenotypic heterogeneity characterized by hallmark impairments in social functioning and�…

[HTML][HTML] Overlapping molecular pathways leading to autism spectrum disorders, fragile X syndrome, and targeted treatments

MJ Salcedo-Arellano, AM Cabal-Herrera, RH Punatar…�- …, 2021 - Elsevier
Autism spectrum disorders (ASD) are subdivided into idiopathic (unknown) etiology and
secondary, based on known etiology. There are hundreds of causes of ASD and most of�…

[HTML][HTML] New animal models for understanding FMRP functions and FXS pathology

E Curnow, Y Wang�- Cells, 2022 - mdpi.com
Fragile X encompasses a range of genetic conditions, all of which result as a function of
changes within the FMR1 gene and abnormal production and/or expression of the FMR1�…

[HTML][HTML] Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons

C Shum, EC Hedges, J Allison, Y Lee, N Arias…�- Stem Cell Reports, 2024 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal, adult-onset neurodegenerative disorder
characterized by progressive muscular weakness due to the selective loss of motor neurons�…

Astroglial FMRP deficiency cell-autonomously up-regulates miR-128 and disrupts developmental astroglial mGluR5 signaling

Y Men, L Ye, RD Risgaard, V Promes…�- Proceedings of the�…, 2020 - National Acad Sciences
The loss of fragile X mental retardation protein (FMRP) causes fragile X syndrome (FXS), the
most common inherited intellectual disability. How the loss of FMRP alters protein�…