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 …

Dysregulation and restoration of translational homeostasis in fragile X syndrome

JD Richter, GJ Bassell, E Klann - Nature Reviews Neuroscience, 2015 - nature.com
Fragile X syndrome (FXS), the most-frequently inherited form of intellectual disability and the
most-prevalent single-gene cause of autism, results from a lack of fragile X mental …

Nanoparticle delivery of CRISPR into the brain rescues a mouse model of fragile X syndrome from exaggerated repetitive behaviours

B Lee, K Lee, S Panda, R Gonzales-Rojas… - Nature biomedical …, 2018 - nature.com
Technologies that can safely edit genes in the brains of adult animals may revolutionize the
treatment of neurological diseases and the understanding of brain function. Here, we …

[HTML][HTML] FMRP regulates neurotransmitter release and synaptic information transmission by modulating action potential duration via BK channels

PY Deng, Z Rotman, JA Blundon, Y Cho, J Cui… - Neuron, 2013 - cell.com
Loss of FMRP causes fragile X syndrome (FXS), but the physiological functions of FMRP
remain highly debatable. Here we show that FMRP regulates neurotransmitter release in …

The translation of translational control by FMRP: therapeutic targets for FXS

JC Darnell, E Klann - Nature neuroscience, 2013 - nature.com
De novo protein synthesis is necessary for long-lasting modifications in synaptic strength
and dendritic spine dynamics that underlie cognition. Fragile X syndrome (FXS) …

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 …

The pathophysiology of fragile X (and what it teaches us about synapses)

AL Bhakar, G Dölen, MF Bear - Annual review of neuroscience, 2012 - annualreviews.org
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 …

Fragile X mental retardation protein and synaptic plasticity

MS Sidorov, BD Auerbach, MF Bear - Molecular brain, 2013 - Springer
Loss of the translational repressor FMRP causes Fragile X syndrome. In healthy neurons,
FMRP modulates the local translation of numerous synaptic proteins. Synthesis of these …

Voltage‐gated potassium channels and the diversity of electrical signalling

LY Jan, YN Jan - The Journal of physiology, 2012 - Wiley Online Library
Abstract Since Hodgkin and Huxley discovered the potassium current that underlies the
falling phase of action potentials in the squid giant axon, the diversity of voltage‐gated …

Synaptic GluN2A-containing NMDA receptors: from physiology to pathological synaptic plasticity

L Franchini, N Carrano, M Di Luca… - International journal of …, 2020 - mdpi.com
N-Methyl-d-Aspartate Receptors (NMDARs) are ionotropic glutamate-gated receptors.
NMDARs are tetramers composed by several homologous subunits of GluN1-, GluN2-, or …