Fundamental elements in autism: from neurogenesis and neurite growth to synaptic plasticity

J Gilbert, HY Man - Frontiers in cellular neuroscience, 2017 - frontiersin.org
Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders with a high
prevalence and impact on society. ASDs are characterized by deficits in both social behavior …

Molecular mechanisms of fragile X syndrome: a twenty-year perspective

MR Santoro, SM Bray, ST Warren - Annual Review of Pathology …, 2012 - annualreviews.org
Fragile X syndrome (FXS) is a common form of inherited intellectual disability and is one of
the leading known causes of autism. The mutation responsible for FXS is a large expansion …

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 …

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) …

RNA-binding proteins balance brain function in health and disease

R Schieweck, J Ninkovic… - Physiological reviews, 2021 - journals.physiology.org
Posttranscriptional gene expression including splicing, RNA transport, translation, and RNA
decay provides an important regulatory layer in many if not all molecular pathways …

Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial

EM Berry-Kravis, D Hessl, B Rathmell… - Science translational …, 2012 - science.org
Research on animal models of fragile X syndrome suggests that STX209, a γ-aminobutyric
acid type B (GABAB) agonist, might improve neurobehavioral function in affected patients …

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 …

Uncoupling of the endocannabinoid signalling complex in a mouse model of fragile X syndrome

KM Jung, M Sepers, CM Henstridge, O Lassalle… - Nature …, 2012 - nature.com
Fragile X syndrome, the most commonly known genetic cause of autism, is due to loss of the
fragile X mental retardation protein, which regulates signal transduction at metabotropic …

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 …