[HTML][HTML] Excitation/inhibition imbalance in animal models of autism spectrum disorders

E Lee, J Lee, E Kim - Biological psychiatry, 2017 - Elsevier
Imbalances between excitation and inhibition in synaptic transmission and neural circuits
have been implicated in autism spectrum disorders. Excitation and inhibition imbalances are …

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome

EM Berry-Kravis, L Lindemann, AE Jønch… - Nature reviews Drug …, 2018 - nature.com
Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive
and behavioural deficits and represent a major public health burden. FXS is the most …

Modeling fragile X syndrome in the Fmr1 knockout mouse

TM Kazdoba, PT Leach, JL Silverman… - Intractable & rare …, 2014 - jstage.jst.go.jp
Summary Fragile X Syndrome (FXS) is a commonly inherited form of intellectual disability
and one of the leading genetic causes for autism spectrum disorder. Clinical symptoms of …

Cognitive dysfunctions in intellectual disabilities: the contributions of the Ras-MAPK and PI3K-AKT-mTOR pathways

SC Borrie, H Brems, E Legius… - Annual review of …, 2017 - annualreviews.org
The Ras-MAPK and PI3K-AKT-mTOR signaling cascades were originally identified as
cancer regulatory pathways but have now been demonstrated to be critical for synaptic …

Effects of AFQ056 on language learning in fragile X syndrome

E Berry-Kravis, L Abbeduto… - The Journal of …, 2024 - Am Soc Clin Investig
BACKGROUND FXLEARN, the first-ever large multisite trial of effects of disease-targeted
pharmacotherapy on learning, was designed to explore a paradigm for measuring effects of …

A subset of autism-associated genes regulate the structural stability of neurons

YC Lin, JA Frei, MBC Kilander, W Shen… - Frontiers in cellular …, 2016 - frontiersin.org
Autism spectrum disorder (ASD) comprises a range of neurological conditions that affect
individuals' ability to communicate and interact with others. People with ASD often exhibit …

International union of basic and clinical pharmacology. CXI. Pharmacology, signaling, and physiology of metabotropic glutamate receptors

KJ Gregory, C Goudet, EH Ohlstein - Pharmacological reviews, 2021 - Elsevier
Metabotropic glutamate (mGlu) receptors respond to glutamate, the major excitatory
neurotransmitter in the mammalian brain, mediating a modulatory role that is critical for …

[HTML][HTML] Therapeutic strategies in fragile X syndrome: from bench to bedside and back

C Gross, A Hoffmann, GJ Bassell, EM Berry-Kravis - Neurotherapeutics, 2015 - Elsevier
Fragile X syndrome (FXS), an inherited intellectual disability often associated with autism, is
caused by the loss of expression of the fragile X mental retardation protein. Tremendous …

Early social enrichment rescues adult behavioral and brain abnormalities in a mouse model of fragile X syndrome

D Oddi, E Subashi, S Middei, L Bellocchio… - …, 2015 - nature.com
Converging lines of evidence support the use of environmental stimulation to ameliorate the
symptoms of a variety of neurodevelopmental disorders. Applying these interventions at very …

Convergence of hippocampal pathophysiology in Syngap+/− and Fmr1−/y mice

SA Barnes, LS Wijetunge, AD Jackson… - Journal of …, 2015 - Soc Neuroscience
Previous studies have hypothesized that diverse genetic causes of intellectual disability (ID)
and autism spectrum disorders (ASDs) converge on common cellular pathways. Testing this …