The molecular biology of FMRP: new insights into fragile X syndrome

JD Richter, X Zhao - Nature Reviews Neuroscience, 2021 - nature.com
Fragile X mental retardation protein (FMRP) is the product of the fragile X mental retardation
1 gene (FMR1), a gene that—when epigenetically inactivated by a triplet nucleotide repeat …

Genetic testing in neurodevelopmental disorders

JM Savatt, SM Myers - Frontiers in Pediatrics, 2021 - frontiersin.org
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

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 …

Inhibition of phosphodiesterase-4D in adults with fragile X syndrome: a randomized, placebo-controlled, phase 2 clinical trial

EM Berry-Kravis, MD Harnett, SA Reines, MA Reese… - Nature medicine, 2021 - nature.com
The goal of this study was to determine whether a phosphodiesterase-4D (PDE4D) allosteric
inhibitor (BPN14770) would improve cognitive function and behavioral outcomes in patients …

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 …

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome

DB Budimirovic, E Berry-Kravis, CA Erickson… - Journal of …, 2017 - Springer
Abstract Objective Fragile X syndrome (FXS) has been the neurodevelopmental disorder
with the most active translation of preclinical breakthroughs into clinical trials. This process …

Autism spectrum disorder and IQ–A complex interplay

N Wolff, S Stroth, I Kamp-Becker, S Roepke… - Frontiers in …, 2022 - frontiersin.org
Autism spectrum disorder (ASD) is characterized as a very heterogeneous child-onset
disorder, whose heterogeneity is partly determined by differences in intelligence quotient …

Auditory EEG biomarkers in fragile X syndrome: clinical relevance

LE Ethridge, LA De Stefano, LM Schmitt… - Frontiers in integrative …, 2019 - frontiersin.org
Sensory hypersensitivities are common and distressing features of Fragile X Syndrome
(FXS). While there are many drug interventions that reduce behavioral deficits in Fmr1 mice …

Neural synchronization deficits linked to cortical hyper-excitability and auditory hypersensitivity in fragile X syndrome

LE Ethridge, SP White, MW Mosconi, J Wang… - Molecular Autism, 2017 - Springer
Background Studies in the fmr1 KO mouse demonstrate hyper-excitability and increased
high-frequency neuronal activity in sensory cortex. These abnormalities may contribute to …

The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions

D Hessl, SM Sansone, E Berry-Kravis, K Riley… - Journal of …, 2016 - Springer
Background Recent advances in understanding molecular and synaptic mechanisms of
intellectual disabilities (ID) in fragile X syndrome (FXS) and Down syndrome (DS) through …