Altered neuronal and circuit excitability in fragile X syndrome
A Contractor, VA Klyachko, C Portera-Cailliau - Neuron, 2015 - cell.com
Fragile X syndrome (FXS) results from a genetic mutation in a single gene yet produces a
phenotypically complex disorder with a range of neurological and psychiatric problems …
phenotypically complex disorder with a range of neurological and psychiatric problems …
Sensory processing in autism spectrum disorders and Fragile X syndrome—From the clinic to animal models
Brains are constantly flooded with sensory information that needs to be filtered at the pre-
attentional level and integrated into endogenous activity in order to allow for detection of …
attentional level and integrated into endogenous activity in order to allow for detection of …
Increased excitation-inhibition ratio stabilizes synapse and circuit excitability in four autism mouse models
MW Antoine, T Langberg, P Schnepel, DE Feldman - neuron, 2019 - cell.com
Distinct genetic forms of autism are hypothesized to share a common increase in excitation-
inhibition (EI) ratio in cerebral cortex, causing hyperexcitability and excess spiking. We …
inhibition (EI) ratio in cerebral cortex, causing hyperexcitability and excess spiking. We …
Reduction in parvalbumin expression not loss of the parvalbumin-expressing GABA interneuron subpopulation in genetic parvalbumin and shank mouse models of …
Background A reduction of the number of parvalbumin (PV)-immunoreactive (PV+)
GABAergic interneurons or a decrease in PV immunoreactivity was reported in several …
GABAergic interneurons or a decrease in PV immunoreactivity was reported in several …
Circuit level defects in the developing neocortex of Fragile X mice
JT Gonçalves, JE Anstey, P Golshani… - Nature …, 2013 - nature.com
Subtle alterations in how cortical network dynamics are modulated by different behavioral
states could disrupt normal brain function and underlie symptoms of neuropsychiatric …
states could disrupt normal brain function and underlie symptoms of neuropsychiatric …
Channelopathies in fragile X syndrome
PY Deng, VA Klyachko - Nature Reviews Neuroscience, 2021 - nature.com
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and the
leading monogenic cause of autism. The condition stems from loss of fragile X mental …
leading monogenic cause of autism. The condition stems from loss of fragile X mental …
The pathophysiology of fragile X (and what it teaches us about synapses)
Fragile X is the most common known inherited cause of intellectual disability and autism,
and it typically results from transcriptional silencing of FMR1 and loss of the encoded …
and it typically results from transcriptional silencing of FMR1 and loss of the encoded …
Dendritic channelopathies contribute to neocortical and sensory hyperexcitability in Fmr1−/y mice
Hypersensitivity in response to sensory stimuli and neocortical hyperexcitability are
prominent features of Fragile X Syndrome (FXS) and autism spectrum disorders, but little is …
prominent features of Fragile X Syndrome (FXS) and autism spectrum disorders, but little is …
MEF2C regulates cortical inhibitory and excitatory synapses and behaviors relevant to neurodevelopmental disorders
AJ Harrington, A Raissi, K Rajkovich, S Berto, J Kumar… - elife, 2016 - elifesciences.org
Numerous genetic variants associated with MEF2C are linked to autism, intellectual
disability (ID) and schizophrenia (SCZ)–a heterogeneous collection of neurodevelopmental …
disability (ID) and schizophrenia (SCZ)–a heterogeneous collection of neurodevelopmental …
Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome
Enhanced metabotropic glutamate receptor subunit 5 (mGluR5) function is causally
associated with the pathophysiology of fragile X syndrome, a leading inherited cause of …
associated with the pathophysiology of fragile X syndrome, a leading inherited cause of …