[HTML][HTML] Fmr1 KO and fenobam treatment differentially impact distinct synapse populations of mouse neocortex

GX Wang, SJ Smith, P Mourrain�- Neuron, 2014 - cell.com
Cognitive deficits in fragile X syndrome (FXS) are attributed to molecular abnormalities of the
brain's vast and heterogeneous synapse populations. Unfortunately, the density of synapses�…

Hyperactive locomotion in a Drosophila model is a functional readout for the synaptic abnormalities underlying fragile X syndrome

R Kashima, PL Redmond, P Ghatpande, S Roy…�- Science�…, 2017 - science.org
Fragile X syndrome (FXS) is the most common cause of heritable intellectual disability and
autism and affects~ 1 in 4000 males and 1 in 8000 females. The discovery of effective�…

[HTML][HTML] Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models

CL Gatto, K Broadie�- Frontiers in synaptic neuroscience, 2010 - frontiersin.org
Proper brain function requires stringent balance of excitatory and inhibitory synapse
formation during neural circuit assembly. Mutation of genes that normally sculpt and�…

Genetic deletion of regulator of G-protein signaling 4 (RGS4) rescues a subset of fragile X related phenotypes in the FMR1 knockout mouse

LKK Pacey, L Doss, C Cifelli, D van der Kooy…�- Molecular and Cellular�…, 2011 - Elsevier
Fragile X syndrome (FXS), the most common cause of inherited mental retardation, is
caused by the loss of the mRNA binding protein, FMRP. Persons with FXS also display�…

[HTML][HTML] Behavioral and synaptic circuit features in a zebrafish model of fragile X syndrome

MC Ng, YL Yang, KT Lu�- PloS one, 2013 - journals.plos.org
Fragile X syndrome (FXS) is the most frequent inherited form of human mental retardation. It
is characterized by cognitive impairment and physical and behavioral problems and is�…

[HTML][HTML] Fragile X syndrome: Lessons learned from the most translated neurodevelopmental disorder in clinical trials

PQ Duy, DB Budimirovic�- Translational Neuroscience, 2017 - degruyter.com
Fragile X syndrome (FXS) is the leading genetic cause of autism spectrum disorder (ASD)
and inherited intellectual disability (ID) worldwide. Preclinical successes in understanding�…

The developmental roles of FMRP

SM Till�- Biochemical Society Transactions, 2010 - portlandpress.com
FXS (Fragile X syndrome) is the most common genetically inherited form of cognitive
impairment. The predominant cause of the syndrome is the loss of a single protein, FMRP�…

Augmented noncanonical BMP type II receptor signaling mediates the synaptic abnormality of fragile X syndrome

R Kashima, S Roy, M Ascano, V Martinez-Cerdeno…�- Science�…, 2016 - science.org
Epigenetic silencing of fragile X mental retardation 1 (FMR1) causes fragile X syndrome
(FXS), a common inherited form of intellectual disability and autism. FXS correlates with�…

Quantitative proteomic analysis of primary neurons reveals diverse changes in synaptic protein content in fmr1 knockout mice

L Liao, SK Park, T Xu, P Vanderklish…�- Proceedings of the�…, 2008 - National Acad Sciences
Fragile X syndrome (FXS) is a common inherited form of mental retardation that is caused, in
the vast majority of cases, by the transcriptional silencing of a single gene, fmr1. The�…

Lessons from fragile X regarding neurobiology, autism, and neurodegeneration

RJ Hagerman�- Journal of Developmental & Behavioral Pediatrics, 2006 - journals.lww.com
The fragile X mental retardation 1 gene (FMR1) mutation causes two disorders: fragile X
syndrome (FXS) in those with the full mutation and the fragile X-associated tremor/ataxia�…