The nexus between RNA-binding proteins and their effectors

S He, E Valkov, S Cheloufi, J Murn - Nature Reviews Genetics, 2023 - nature.com
RNA-binding proteins (RBPs) regulate essentially every event in the lifetime of an RNA
molecule, from its production to its destruction. Whereas much has been learned about RNA …

Drosophila as an In Vivo Model for Human Neurodegenerative Disease

L McGurk, A Berson, NM Bonini - Genetics, 2015 - academic.oup.com
With the increase in the ageing population, neurodegenerative disease is devastating to
families and poses a huge burden on society. The brain and spinal cord are extraordinarily …

[PDF][PDF] Lost in transportation: nucleocytoplasmic transport defects in ALS and other neurodegenerative diseases

HJ Kim, JP Taylor - Neuron, 2017 - cell.com
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disease
characterized by degeneration of upper and lower motor neurons in the brain and spinal …

[PDF][PDF] Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions

JK Nussbacher, R Tabet, GW Yeo, C Lagier-Tourenne - Neuron, 2019 - cell.com
RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …

ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function

A Sharma, AK Lyashchenko, L Lu… - Nature …, 2016 - nature.com
Mutations in FUS cause amyotrophic lateral sclerosis (ALS), including some of the most
aggressive, juvenile-onset forms of the disease. FUS loss-of-function and toxic gain-of …

Patient-derived frontotemporal lobar degeneration brain extracts induce formation and spreading of TDP-43 pathology in vivo

S Porta, Y Xu, CR Restrepo, LK Kwong, B Zhang… - Nature …, 2018 - nature.com
The stereotypical distribution of TAR DNA-binding 43 protein (TDP-43) aggregates in
frontotemporal lobar degeneration (FTLD-TDP) suggests that pathological TDP-43 spreads …

[HTML][HTML] TDP-43 proteinopathy and ALS: insights into disease mechanisms and therapeutic targets

EL Scotter, HJ Chen, CE Shaw - Neurotherapeutics, 2015 - Elsevier
Therapeutic options for patients with amyotrophic lateral sclerosis (ALS) are currently
limited. However, recent studies show that almost all cases of ALS, as well as tau-negative …

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease

OD King, AD Gitler, J Shorter - Brain research, 2012 - Elsevier
Prions are self-templating protein conformers that are naturally transmitted between
individuals and promote phenotypic change. In yeast, prion-encoded phenotypes can be …

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

IRA Mackenzie, R Rademakers… - The Lancet Neurology, 2010 - thelancet.com
Abnormal intracellular protein aggregates comprise a key characteristic in most
neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and …

Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway

YC Lin, MS Kumar, N Ramesh, EN Anderson… - Nature …, 2021 - nature.com
Nucleocytoplasmic transport (NCT) decline occurs with aging and neurodegeneration. Here,
we investigated the NCT pathway in models of amyotrophic lateral sclerosis–fused in …