The GABAA receptor as a therapeutic target for neurodevelopmental disorders

S Braat, RF Kooy - Neuron, 2015 - cell.com
Intellectual disability, autism spectrum disorder, and epilepsy are prime examples of
neurodevelopmental disorders that collectively affect a significant percentage of the world …

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 …

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) …

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 …

Fragile X syndrome: a review of clinical and molecular diagnoses

C Ciaccio, L Fontana, D Milani, S Tabano… - Italian journal of …, 2017 - Springer
Abstract Background Fragile X Syndrome (FXS) is the second cause of intellectual disability
after Down syndrome and the most prevalent cause of intellectual disability in males …

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 …

Modulation of GABAergic transmission in development and neurodevelopmental disorders: investigating physiology and pathology to gain therapeutic perspectives

G Deidda, IF Bozarth, L Cancedda - Frontiers in cellular neuroscience, 2014 - frontiersin.org
During mammalian ontogenesis, the neurotransmitter GABA is a fundamental regulator of
neuronal networks. In neuronal development, GABAergic signaling regulates neural …

Of men and mice: modeling the fragile X syndrome

R Dahlhaus - Frontiers in molecular neuroscience, 2018 - frontiersin.org
The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual
disability in all human societies. Caused by the transcriptional silencing of a single gene, the …

Cerebellar and striatal implications in autism spectrum disorders: from clinical observations to animal models

M Thabault, V Turpin, A Maisterrena, M Jaber… - International Journal of …, 2022 - mdpi.com
Autism spectrum disorders (ASD) are complex conditions that stem from a combination of
genetic, epigenetic and environmental influences during early pre-and postnatal childhood …

Fragile X targeted pharmacotherapy: lessons learned and future directions

CA Erickson, MH Davenport, TL Schaefer… - Journal of …, 2017 - Springer
Our understanding of fragile X syndrome (FXS) pathophysiology continues to improve and
numerous potential drug targets have been identified. Yet, current prescribing practices are …