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 …

[HTML][HTML] FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

JC Darnell, SJ Van Driesche, C Zhang, KYS Hung… - Cell, 2011 - cell.com
FMRP loss of function causes Fragile X syndrome (FXS) and autistic features. FMRP is a
polyribosome-associated neuronal RNA-binding protein, suggesting that it plays a key role …

Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions

JK Nussbacher, R Tabet, GW Yeo, C Lagier-Tourenne - Neuron, 2019 - cell.com
RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …

Altered neuronal and circuit excitability in fragile X syndrome

A Contractor, VA Klyachko, C Portera-Cailliau - Neuron, 2015 - cell.com
Fragile X syndrome (FXS) results from a genetic mutation in a single gene yet produces a
phenotypically complex disorder with a range of neurological and psychiatric problems …

Human microRNA targets

B John, AJ Enright, A Aravin, T Tuschl, C Sander… - PLoS …, 2004 - journals.plos.org
MicroRNAs (miRNAs) interact with target mRNAs at specific sites to induce cleavage of the
message or inhibit translation. The specific function of most mammalian miRNAs is …

The GABAA receptor as a therapeutic target for neurodevelopmental disorders

S Braat, RF Kooy - Neuron, 2015 - cell.com
Intellectual disability, autism spectrum disorder, and epilepsy are prime examples of
neurodevelopmental disorders that collectively affect a significant percentage of the world …

The mGluR theory of fragile X mental retardation

MF Bear, KM Huber, ST Warren - Trends in neurosciences, 2004 - cell.com
Many of the diverse functional consequences of activating group 1 metabotropic glutamate
receptors require translation of pre-existing mRNA near synapses. One of these …

CLIP identifies Nova-regulated RNA networks in the brain

J Ule, KB Jensen, M Ruggiu, A Mele, A Ule, RB Darnell - Science, 2003 - science.org
Nova proteins are neuron-specific antigens targeted in paraneoplastic opsoclonus
myoclonus ataxia (POMA), an autoimmune neurologic disease characterized by abnormal …

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 …