[HTML][HTML] An update on psychopharmacological treatment of autism spectrum disorder

R Aishworiya, T Valica, R Hagerman, B Restrepo - Neurotherapeutics, 2022 - Elsevier
While behavioral interventions remain the mainstay of treatment of autism spectrum disorder
(ASD), several potential targeted treatments addressing the underlying neurophysiology of …

The neurology of mTOR

JO Lipton, M Sahin - Neuron, 2014 - cell.com
The mechanistic target of rapamycin (mTOR) signaling pathway is a crucial cellular
signaling hub that, like the nervous system itself, integrates internal and external cues to …

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 …

Glutamatergic mechanisms associated with seizures and epilepsy

M Barker-Haliski, HS White - Cold Spring …, 2015 - perspectivesinmedicine.cshlp.org
Epilepsy is broadly characterized by aberrant neuronal excitability. Glutamate is the
predominant excitatory neurotransmitter in the adult mammalian brain; thus, much of past …

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 …

Rett syndrome: a neurological disorder with metabolic components

SM Kyle, N Vashi, MJ Justice - Open biology, 2018 - royalsocietypublishing.org
Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene
methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator …

Metformin ameliorates core deficits in a mouse model of fragile X syndrome

I Gantois, A Khoutorsky, J Popic, A Aguilar-Valles… - Nature medicine, 2017 - nature.com
Fragile X syndrome (FXS) is the leading monogenic cause of autism spectrum disorders
(ASD). Trinucleotide repeat expansions in FMR1 abolish FMRP expression, leading to …

Chd8 mutation leads to autistic-like behaviors and impaired striatal circuits

RJ Platt, Y Zhou, IM Slaymaker, AS Shetty… - Cell reports, 2017 - cell.com
Autism spectrum disorder (ASD) is a heterogeneous disease, but genetically defined models
can provide an entry point to studying the molecular underpinnings of this disorder. We …

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) …