Alternative splicing regulatory networks: functions, mechanisms, and evolution

J Ule, BJ Blencowe - Molecular cell, 2019 - cell.com
High-throughput sequencing-based methods and their applications in the study of
transcriptomes have revolutionized our understanding of alternative splicing. Networks of …

The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis

A Bampton, LM Gittings, P Fratta, T Lashley… - Acta Neuropathologica, 2020 - Springer
Dysregulated RNA metabolism is emerging as a crucially important mechanism
underpinning the pathogenesis of frontotemporal dementia (FTD) and the clinically …

TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A

Y Koike, S Pickles, V Estades Ayuso… - PLoS …, 2023 - journals.plos.org
A major function of TAR DNA-binding protein-43 (TDP-43) is to repress the inclusion of
cryptic exons during RNA splicing. One of these cryptic exons is in UNC13A, a genetic risk …

Multiple functions of heterogeneous nuclear ribonucleoproteins in the positive single-stranded RNA virus life cycle

J Wang, D Sun, M Wang, A Cheng, Y Zhu… - Frontiers in …, 2022 - frontiersin.org
The heterogeneous nuclear ribonucleoproteins (hnRNPs) are a diverse family of RNA
binding proteins that are implicated in RNA metabolism, such as alternative splicing, mRNA …

Splicing repression is a major function of TDP-43 in motor neurons

A Donde, M Sun, JP Ling, KE Braunstein, B Pang… - Acta …, 2019 - Springer
Nuclear depletion of TDP-43, an essential RNA binding protein, may underlie
neurodegeneration in amyotrophic lateral sclerosis (ALS). As several functions have been …

The splicing factor hnRNP M is a critical regulator of innate immune gene expression in macrophages

KO West, HM Scott, S Torres-Odio, AP West, KL Patrick… - Cell reports, 2019 - cell.com
While transcriptional control of innate immune gene expression is well characterized, almost
nothing is known about how pre-mRNA splicing decisions influence, or are influenced by …

HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing

A Bampton, A Gatt, J Humphrey, S Cappelli… - Acta …, 2021 - Springer
Heterogeneous nuclear ribonucleoproteins (HnRNPs) are a group of ubiquitously
expressed RNA-binding proteins implicated in the regulation of all aspects of nucleic acid …

ASCOT identifies key regulators of neuronal subtype-specific splicing

JP Ling, C Wilks, R Charles, PJ Leavey… - Nature …, 2020 - nature.com
Public archives of next-generation sequencing data are growing exponentially, but the
difficulty of marshaling this data has led to its underutilization by scientists. Here, we present …

Cytoplasmic aggregation of mutant FUS causes multistep RNA splicing perturbations in the course of motor neuron pathology

AP Rezvykh, AA Ustyugov, KD Chaprov… - Nucleic acids …, 2023 - academic.oup.com
Dysfunction of the RNA-binding protein (RBP) FUS implicated in RNA metabolism can
cause amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases. Mutations …

Pseudoexon activation in disease by non‐splice site deep intronic sequence variation—wild type pseudoexons constitute high‐risk sites in the human genome

USS Petersen, TK Doktor, BS Andresen - Human mutation, 2022 - Wiley Online Library
Accuracy of pre‐messenger RNA (pre‐mRNA) splicing is crucial for normal gene
expression. Complex regulation supports the spliceosomal distinction between authentic …