RNA-binding proteins in human genetic disease

F Gebauer, T Schwarzl, J Valcárcel… - Nature Reviews …, 2021 - nature.com
RNA-binding proteins (RBPs) are critical effectors of gene expression, and as such their
malfunction underlies the origin of many diseases. RBPs can recognize hundreds of …

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 …

Where, when, and how: context-dependent functions of RNA methylation writers, readers, and erasers

H Shi, J Wei, C He - Molecular cell, 2019 - cell.com
Cellular RNAs are naturally decorated with a variety of chemical modifications. The
structural diversity of the modified nucleosides provides regulatory potential to sort groups of …

N6-methyladenosine (m6A) recruits and repels proteins to regulate mRNA homeostasis

RR Edupuganti, S Geiger, RGH Lindeboom… - Nature structural & …, 2017 - nature.com
RNA modifications are integral to the regulation of RNA metabolism. One abundant mRNA
modification is N 6-methyladenosine (m6A), which affects various aspects of RNA …

Excitatory/inhibitory balance and circuit homeostasis in autism spectrum disorders

SB Nelson, V Valakh - Neuron, 2015 - cell.com
Autism spectrum disorders (ASDs) and related neurological disorders are associated with
mutations in many genes affecting the ratio between neuronal excitation and inhibition …

Alternative 3′ UTRs modify the localization, regulatory potential, stability, and plasticity of mRNAs in neuronal compartments

G Tushev, C Glock, M Heumüller, A Biever… - Neuron, 2018 - cell.com
Neurons localize mRNAs near synapses where their translation can be regulated by
synaptic demand and activity. Differences in the 3′ UTRs of mRNAs can change their …

A census of human RNA-binding proteins

S Gerstberger, M Hafner, T Tuschl - Nature Reviews Genetics, 2014 - nature.com
Post-transcriptional gene regulation (PTGR) concerns processes involved in the maturation,
transport, stability and translation of coding and non-coding RNAs. RNA-binding proteins …

Synaptic, transcriptional and chromatin genes disrupted in autism

S De Rubeis, X He, AP Goldberg, CS Poultney… - Nature, 2014 - nature.com
The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

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 …

Phosphoregulated FMRP phase separation models activity-dependent translation through bidirectional control of mRNA granule formation

B Tsang, J Arsenault, RM Vernon, H Lin… - Proceedings of the …, 2019 - pnas.org
Activity-dependent translation requires the transport of mRNAs within membraneless protein
assemblies known as neuronal granules from the cell body toward synaptic regions …