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 …

ERK signalling: a master regulator of cell behaviour, life and fate

H Lavoie, J Gagnon, M Therrien - Nature reviews Molecular cell biology, 2020 - nature.com
The proteins extracellular signal-regulated kinase 1 (ERK1) and ERK2 are the downstream
components of a phosphorelay pathway that conveys growth and mitogenic signals largely …

Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …

Advancing the understanding of autism disease mechanisms through genetics

L de la Torre-Ubieta, H Won, JL Stein… - Nature medicine, 2016 - nature.com
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …

From the genetic architecture to synaptic plasticity in autism spectrum disorder

T Bourgeron - Nature Reviews Neuroscience, 2015 - nature.com
Genetics studies of autism spectrum disorder (ASD) have identified several risk genes that
are key regulators of synaptic plasticity. Indeed, many of the risk genes that have been …

The organizing principles of eukaryotic ribosome recruitment

J Pelletier, N Sonenberg - Annual review of biochemistry, 2019 - annualreviews.org
The stage at which ribosomes are recruited to messenger RNAs (mRNAs) is an elaborate
and highly regulated phase of protein synthesis. Upon completion of this step, a ribosome is …

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 …

[PDF][PDF] 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 …

The genomic signature of dog domestication reveals adaptation to a starch-rich diet

E Axelsson, A Ratnakumar, ML Arendt, K Maqbool… - Nature, 2013 - nature.com
The domestication of dogs was an important episode in the development of human
civilization. The precise timing and location of this event is debated,,,, and little is known …

RNA transport and local translation in neurodevelopmental and neurodegenerative disease

MS Fernandopulle, J Lippincott-Schwartz… - Nature …, 2021 - nature.com
Neurons decentralize protein synthesis from the cell body to support the active metabolism
of remote dendritic and axonal compartments. The neuronal RNA transport apparatus …