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RNA-binding proteins in human genetic disease
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 …
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 …
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
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 …
structural diversity of the modified nucleosides provides regulatory potential to sort groups of …
N6-methyladenosine (m6A) recruits and repels proteins to regulate mRNA homeostasis
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 …
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 …
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
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 demand and activity. Differences in the 3′ UTRs of mRNAs can change their …
A census of human RNA-binding proteins
Post-transcriptional gene regulation (PTGR) concerns processes involved in the maturation,
transport, stability and translation of coding and non-coding RNAs. RNA-binding proteins …
transport, stability and translation of coding and non-coding RNAs. RNA-binding proteins …
Synaptic, transcriptional and chromatin genes disrupted in autism
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 …
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 …
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
Activity-dependent translation requires the transport of mRNAs within membraneless protein
assemblies known as neuronal granules from the cell body toward synaptic regions …
assemblies known as neuronal granules from the cell body toward synaptic regions …