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 …

Roles of PTBP1 in alternative splicing, glycolysis, and oncogensis

W Zhu, B Zhou, L Rong, L Ye, H Xu, Y Zhou… - Journal of Zhejiang …, 2020 - Springer
Polypyrimidine tract-binding protein 1 (PTBP1) plays an essential role in splicing and is
expressed in almost all cell types in humans, unlike the other proteins of the PTBP family …

Genetic loss of function of Ptbp1 does not induce glia-to-neuron conversion in retina

T Hoang, DW Kim, H Appel, NA Pannullo, P Leavey… - Cell reports, 2022 - cell.com
Direct reprogramming of glia into neurons is a potentially promising approach for the
replacement of neurons lost to injury or neurodegenerative disorders. Knockdown of the …

A short tandem repeat-enriched RNA assembles a nuclear compartment to control alternative splicing and promote cell survival

K Yap, S Mukhina, G Zhang, JSC Tan, HS Ong… - Molecular cell, 2018 - cell.com
Functions of many long noncoding RNAs (lncRNAs) depend on their ability to interact with
multiple copies of specific RNA-binding proteins (RBPs). Here, we devised a workflow …

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 …

Heteromeric RNP assembly at LINEs controls lineage-specific RNA processing

J Attig, F Agostini, C Gooding, AM Chakrabarti, A Singh… - Cell, 2018 - cell.com
Long mammalian introns make it challenging for the RNA processing machinery to identify
exons accurately. We find that LINE-derived sequences (LINEs) contribute to this selection …

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 …

SON drives oncogenic RNA splicing in glioblastoma by regulating PTBP1/PTBP2 switching and RBFOX2 activity

JH Kim, K Jeong, J Li, JM Murphy, L Vukadin… - Nature …, 2021 - nature.com
While dysregulation of RNA splicing has been recognized as an emerging target for cancer
therapy, the functional significance of RNA splicing and individual splicing factors in brain …

Loss of TDP-43 function and rimmed vacuoles persist after T cell depletion in a xenograft model of sporadic inclusion body myositis

KA Britson, JP Ling, KE Braunstein… - Science translational …, 2022 - science.org
Sporadic inclusion body myositis (IBM) is the most common acquired muscle disease in
adults over age 50, yet it remains unclear whether the disease is primarily driven by T cell …

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 …