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 …

A synaptic perspective of fragile X syndrome and autism spectrum disorders

C Bagni, RS Zukin - Neuron, 2019 - cell.com
Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS),
autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are …

Blood-brain barrier regulation in psychiatric disorders

J Kealy, C Greene, M Campbell - Neuroscience letters, 2020 - Elsevier
The blood-brain barrier (BBB) is a dynamic interface between the peripheral blood supply
and the cerebral parenchyma, controlling the transport of material to and from the brain …

The neuropathology of autism: A systematic review of post-mortem studies of autism and related disorders

R Fetit, RF Hillary, DJ Price, SM Lawrie - Neuroscience & Biobehavioral …, 2021 - Elsevier
Post-mortem studies allow for the direct investigation of brain tissue in those with autism and
related disorders. Several review articles have focused on aspects of post-mortem …

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 …

Fragile X syndrome: from molecular aspect to clinical treatment

DD Protic, R Aishworiya, MJ Salcedo-Arellano… - International journal of …, 2022 - mdpi.com
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the full mutation as
well as highly localized methylation of the fragile X mental retardation 1 (FMR1) gene on the …

Sensory abnormalities in autism spectrum disorders: a focus on the tactile domain, from genetic mouse models to the clinic

L Balasco, G Provenzano, Y Bozzi - Frontiers in Psychiatry, 2020 - frontiersin.org
Sensory abnormalities are commonly recognized as diagnostic criteria in autism spectrum
disorder (ASD), as reported in the last edition of the Diagnostic and Statistical Manual of …

FMRP has a cell-type-specific role in CA1 pyramidal neurons to regulate autism-related transcripts and circadian memory

K Sawicka, CR Hale, CY Park, JJ Fak, JE Gresack… - Elife, 2019 - elifesciences.org
Loss of the RNA binding protein FMRP causes Fragile X Syndrome (FXS), the most common
cause of inherited intellectual disability, yet it is unknown how FMRP function varies across …

Neurogenetic disorders across the lifespan: from aberrant development to degeneration

RA Hickman, SA O'Shea, MF Mehler… - Nature Reviews …, 2022 - nature.com
Intellectual disability and autism spectrum disorder (ASD) are common, and genetic testing
is increasingly performed in individuals with these diagnoses to inform prognosis, refine …

Dopaminergic dysregulation in syndromic autism spectrum disorders: insights from genetic mouse models

P Kosillo, HS Bateup - Frontiers in Neural Circuits, 2021 - frontiersin.org
Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by altered social
interaction and communication, and repetitive, restricted, inflexible behaviors. Approximately …