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 …

[PDF][PDF] 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 …

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 …

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 …

[PDF][PDF] 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 …

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 …

[PDF][PDF] 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 …

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 …

starBase v2. 0: decoding miRNA-ceRNA, miRNA-ncRNA and protein–RNA interaction networks from large-scale CLIP-Seq data

JH Li, S Liu, H Zhou, LH Qu, JH Yang - Nucleic acids research, 2014 - academic.oup.com
Although microRNAs (miRNAs), other non-coding RNAs (ncRNAs)(eg lncRNAs,
pseudogenes and circRNAs) and competing endogenous RNAs (ceRNAs) have been …

A METTL3–METTL14 complex mediates mammalian nuclear RNA N6-adenosine methylation

J Liu, Y Yue, D Han, X Wang, Y Fu, L Zhang… - Nature chemical …, 2014 - nature.com
Abstract N 6-methyladenosine (m6A) is the most prevalent and reversible internal
modification in mammalian messenger and noncoding RNAs. We report here that human …