Roles and mechanisms of alternative splicing in cancer—implications for care

SC Bonnal, I López-Oreja, J Valcárcel - Nature reviews Clinical …, 2020 - nature.com
Removal of introns from messenger RNA precursors (pre-mRNA splicing) is an essential
step for the expression of most eukaryotic genes. Alternative splicing enables the regulated …

A brave new world of RNA-binding proteins

MW Hentze, A Castello, T Schwarzl… - Nature reviews Molecular …, 2018 - nature.com
RNA-binding proteins (RBPs) are typically thought of as proteins that bind RNA through one
or multiple globular RNA-binding domains (RBDs) and change the fate or function of the …

Somatic mutational landscape of splicing factor genes and their functional consequences across 33 cancer types

M Seiler, S Peng, AA Agrawal, J Palacino, T Teng… - Cell reports, 2018 - cell.com
Hotspot mutations in splicing factor genes have been recently reported at high frequency in
hematological malignancies, suggesting the importance of RNA splicing in cancer. We …

Deep intronic mutations and human disease

R Vaz-Drago, N Custódio, M Carmo-Fonseca - Human genetics, 2017 - Springer
Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a
substantial proportion of patients, sequence information restricted to exons and exon–intron …

Splice-switching antisense oligonucleotides as therapeutic drugs

MA Havens, ML Hastings - Nucleic acids research, 2016 - academic.oup.com
Splice-switching oligonucleotides (SSOs) are short, synthetic, antisense, modified nucleic
acids that base-pair with a pre-mRNA and disrupt the normal splicing repertoire of the …

Discovery proteomics in aging human skeletal muscle finds change in spliceosome, immunity, proteostasis and mitochondria

C Ubaida-Mohien, A Lyashkov, M Gonzalez-Freire… - Elife, 2019 - elifesciences.org
A decline of skeletal muscle strength with aging is a primary cause of mobility loss and frailty
in older persons, but the molecular mechanisms of such decline are not understood. Here …

[HTML][HTML] SR proteins: binders, regulators, and connectors of RNA

S Jeong - Molecules and cells, 2017 - Elsevier
Serine and arginine-rich (SR) proteins are RNA-binding proteins (RBPs) known as
constitutive and alternative splicing regulators. As splicing is linked to transcriptional and …

RNA polymerase II phosphorylated on CTD serine 5 interacts with the spliceosome during co-transcriptional splicing

T Nojima, K Rebelo, T Gomes, AR Grosso… - Molecular cell, 2018 - cell.com
The highly intronic nature of protein coding genes in mammals necessitates a co-
transcriptional splicing mechanism as revealed by mNET-seq analysis. Immunoprecipitation …

Post-transcriptional regulation of gene expression and human disease

AH Corbett - Current opinion in cell biology, 2018 - Elsevier
A large number of mutations in genes that encode RNA binding proteins cause human
disease. Many of these RNA binding proteins mediate key steps in post-transcriptional …

Cryo-EM structure of a pre-catalytic human spliceosome primed for activation

K Bertram, DE Agafonov, O Dybkov, D Haselbach… - Cell, 2017 - cell.com
Little is known about the spliceosome's structure before its extensive remodeling into a
catalytically active complex. Here, we report a 3D cryo-EM structure of a pre-catalytic human …