Disease-targeted treatment translation in fragile X syndrome as a model for neurodevelopmental disorders

E Berry-Kravis - Journal of Child Neurology, 2022 - journals.sagepub.com
Fragile X syndrome (FXS), the most common monogenic cause of intellectual disability and
autism spectrum disorder, has been one of the first neurodevelopmental disorders in which …

From synaptic dysfunction to atypical emotional processing in autism

SL Reis, P Monteiro - FEBS letters, 2024 - Wiley Online Library
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition mainly
characterized by social impairments and repetitive behaviors. Among these core symptoms …

[HTML][HTML] 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 …

Anandamide and 2-arachidonoylglycerol differentially modulate autistic-like traits in a genetic model of autism based on FMR1 deletion in rats

S Schiavi, A Manduca, E Carbone, V Buzzelli… - …, 2023 - nature.com
Autism spectrum disorder (ASD) has a multifactorial etiology. Major efforts are underway to
understand the neurobiological bases of ASD and to develop efficacious treatment …

[HTML][HTML] Cerebellar contribution to autism-relevant behaviors in fragile X syndrome models

JM Gibson, AH Vazquez, K Yamashiro, V Jakkamsetti… - Cell reports, 2023 - cell.com
Cerebellar dysfunction has been linked to autism spectrum disorders (ASDs). Although
cerebellar pathology has been observed in individuals with fragile X syndrome (FXS) and in …

Axonal and presynaptic FMRP: Localization, signal, and functional implications

X Wang, D Sela-Donenfeld, Y Wang - Hearing research, 2023 - Elsevier
Fragile X mental retardation protein (FMRP) binds a selected set of mRNAs and proteins to
guide neural circuit assembly and regulate synaptic plasticity. Loss of FMRP is responsible …

[HTML][HTML] Challenges in developing therapies in fragile X syndrome: how the FXLEARN trial can guide research

JL Neul - The Journal of Clinical Investigation, 2024 - Am Soc Clin Investig
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and the
single-gene cause of autism, is caused by decreased expression of the fragile X messenger …

[HTML][HTML] Fragile X mental retardation protein and cerebral expression of metabotropic glutamate receptor subtype 5 in men with fragile X syndrome: a pilot study

JR Brašić, JA Goodman, A Nandi, DS Russell… - Brain Sciences, 2022 - mdpi.com
Multiple lines of evidence suggest that a deficiency of Fragile X Mental Retardation Protein
(FMRP) mediates dysfunction of the metabotropic glutamate receptor subtype 5 (mGluR5) in …

Dynamic Foraging Behavior Performance Is Not Affected by Scn2a Haploinsufficiency

S Schamiloglu, H Wu, M Zhou, AC Kwan, KJ Bender - Eneuro, 2023 - eneuro.org
Dysfunction in the gene SCN2A, which encodes the voltage-gated sodium channel Nav1. 2,
is strongly associated with neurodevelopmental disorders including autism spectrum …

[图书][B] Exploring and Exploiting Genetic Risk for Psychiatric Disorders

JA Gordon, E Binder - 2023 - books.google.com
An edited volume that looks at the state of psychiatric genetics and how to chart a path
forward. In this edited collection, experts from psychiatric and statistical genetics …