Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects

ME Rogalska, C Vivori, J Valcárcel - Nature Reviews Genetics, 2023 - nature.com
The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …

Alternative splicing as a regulator of development and tissue identity

FE Baralle, J Giudice - Nature reviews Molecular cell biology, 2017 - nature.com
Alternative splicing of eukaryotic transcripts is a mechanism that enables cells to generate
vast protein diversity from a limited number of genes. The mechanisms and outcomes of …

[HTML][HTML] Molecular topography of an entire nervous system

SR Taylor, G Santpere, A Weinreb, A Barrett, MB Reilly… - Cell, 2021 - cell.com
We have produced gene expression profiles of all 302 neurons of the C. elegans nervous
system that match the single-cell resolution of its anatomy and wiring diagram. Our results …

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

JJ Lee, R Wedow, A Okbay, E Kong, O Maghzian… - Nature …, 2018 - nature.com
Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

MJ Gandal, P Zhang, E Hadjimichael, RL Walker… - Science, 2018 - science.org
INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …

A spatially resolved brain region-and cell type-specific isoform atlas of the postnatal mouse brain

A Joglekar, A Prjibelski, A Mahfouz, P Collier… - Nature …, 2021 - nature.com
Splicing varies across brain regions, but the single-cell resolution of regional variation is
unclear. We present a single-cell investigation of differential isoform expression (DIE) …

It's not just a phase: function and characteristics of RNA-binding proteins in phase separation

HJ Wiedner, J Giudice - Nature structural & molecular biology, 2021 - nature.com
Biomolecular condensates that form via phase separation are increasingly regarded as
coordinators of cellular reactions that regulate a wide variety of biological phenomena …

Molecular roles and function of circular RNAs in eukaryotic cells

LM Holdt, A Kohlmaier, D Teupser - Cellular and Molecular Life Sciences, 2018 - Springer
Protein-coding and noncoding genes in eukaryotes are typically expressed as linear
messenger RNAs, with exons arranged colinearly to their genomic order. Recent advances …

Cell-type-specific alternative splicing governs cell fate in the developing cerebral cortex

X Zhang, MH Chen, X Wu, A Kodani, J Fan, R Doan… - Cell, 2016 - cell.com
Alternative splicing is prevalent in the mammalian brain. To interrogate the functional role of
alternative splicing in neural development, we analyzed purified neural progenitor cells …

EMT and stemness: flexible processes tuned by alternative splicing in development and cancer progression

D Pradella, C Naro, C Sette, C Ghigna - Molecular cancer, 2017 - Springer
Epithelial-to-mesenchymal transition (EMT) is associated with metastasis formation as well
as with generation and maintenance of cancer stem cells. In this way, EMT contributes to …