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 …

Dendrite and spine modifications in autism and related neurodevelopmental disorders in patients and animal models

V Martínez‐Cerdeño - Developmental neurobiology, 2017 - Wiley Online Library
Dendrites and spines are the main neuronal structures receiving input from other neurons
and glial cells. Dendritic and spine number, size, and morphology are some of the crucial …

Fragile X syndrome

RJ Hagerman, E Berry-Kravis, HC Hazlett… - Nature reviews Disease …, 2017 - nature.com
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism
spectrum disorder, and patients can present with severe behavioural alterations, including …

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 …

Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

C Bagni, F Tassone, G Neri… - The Journal of clinical …, 2012 - Am Soc Clin Investig
Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is
also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet …

Reversing excitatory GABAAR signaling restores synaptic plasticity and memory in a mouse model of Down syndrome

G Deidda, M Parrini, S Naskar, IF Bozarth… - Nature medicine, 2015 - nature.com
Down syndrome (DS) is the most frequent genetic cause of intellectual disability, and altered
GABAergic transmission through Cl−-permeable GABAA receptors (GABAARs) contributes …

Down syndrome: the brain in trisomic mode

M Dierssen - Nature Reviews Neuroscience, 2012 - nature.com
Down syndrome is the most common form of intellectual disability and results from one of the
most complex genetic perturbations that is compatible with survival, trisomy 21. The study of …

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 …

[HTML][HTML] Fragile X syndrome and associated disorders: Clinical aspects and pathology

MJ Salcedo-Arellano, B Dufour, Y McLennan… - Neurobiology of …, 2020 - Elsevier
This review aims to assemble many years of research and clinical experience in the fields of
neurodevelopment and neuroscience to present an up-to-date understanding of the clinical …

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 …