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 …

Towards a molecular understanding of microRNA-mediated gene silencing

S Jonas, E Izaurralde - Nature reviews genetics, 2015 - nature.com
MicroRNAs (miRNAs) are a conserved class of small non-coding RNAs that assemble with
Argonaute proteins into miRNA-induced silencing complexes (miRISCs) to direct post …

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

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

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 …

Synaptopathology involved in autism spectrum disorder

S Guang, N Pang, X Deng, L Yang, F He… - Frontiers in cellular …, 2018 - frontiersin.org
Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental
disorders characterized by impaired social communication, social interaction and repetitive …

Monosomes actively translate synaptic mRNAs in neuronal processes

A Biever, C Glock, G Tushev, E Ciirdaeva, T Dalmay… - Science, 2020 - science.org
INTRODUCTION RNA sequencing and in situ hybridization have revealed the presence of
an unexpectedly high number of RNA species in neuronal dendrites and axons, and many …

Biogenesis, turnover, and mode of action of plant microRNAs

K Rogers, X Chen - The Plant Cell, 2013 - academic.oup.com
MicroRNAs (miRNAs) are small RNAs that control gene expression through silencing of
target mRNAs. Mature miRNAs are processed from primary miRNA transcripts by the …

PSD95: A synaptic protein implicated in schizophrenia or autism?

AA Coley, WJ Gao - Progress in Neuro-Psychopharmacology and …, 2018 - Elsevier
The molecular components of the postsynaptic density (PSD) in excitatory synapses of the
brain are currently being investigated as one of the major etiologies of neurodevelopmental …

BDNF-induced local protein synthesis and synaptic plasticity

G Leal, D Comprido, CB Duarte - Neuropharmacology, 2014 - Elsevier
Brain-derived neurotrophic factor (BDNF) is an important regulator of synaptic transmission
and long-term potentiation (LTP) in the hippocampus and in other brain regions, playing a …