C9orf72 arginine-rich dipeptide repeat proteins disrupt karyopherin-mediated nuclear import

LR Hayes, L Duan, K Bowen, P Kalab, JD Rothstein - Elife, 2020 - elifesciences.org
Disruption of nucleocytoplasmic transport is increasingly implicated in the pathogenesis of
neurodegenerative diseases, including ALS caused by a C9orf72 hexanucleotide repeat …

Nuclear import receptors directly bind to arginine-rich dipeptide repeat proteins and suppress their pathological interactions

S Hutten, S Usluer, B Bourgeois, F Simonetti, HM Odeh… - Cell reports, 2020 - cell.com
Nuclear import receptors, also called importins, mediate nuclear import of proteins and
chaperone aggregation-prone cargoes (eg, neurodegeneration-linked RNA-binding …

C9orf72-generated poly-GR and poly-PR do not directly interfere with nucleocytoplasmic transport

J Vanneste, T Vercruysse, S Boeynaems, A Sicart… - Scientific reports, 2019 - nature.com
Repeat expansions in the C9orf72 gene cause amyotrophic lateral sclerosis and
frontotemporal dementia characterized by dipeptide-repeat protein (DPR) inclusions. The …

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD

S Boeynaems, E Bogaert, E Michiels, I Gijselinck… - Scientific reports, 2016 - nature.com
Hexanucleotide repeat expansions in C9orf72 are the most common cause of amyotrophic
lateral sclerosis (ALS) and frontotemporal degeneration (FTD)(c9ALS/FTD). Unconventional …

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

GM Hautbergue, LM Castelli, L Ferraiuolo… - Nature …, 2017 - nature.com
Hexanucleotide repeat expansions in the C9ORF72 gene are the commonest known
genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Expression of …

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

A Jovičić, J Mertens, S Boeynaems, E Bogaert… - Nature …, 2015 - nature.com
C9orf72 mutations are the most common cause of amyotrophic lateral sclerosis (ALS) and
frontotemporal dementia (FTD). Dipeptide repeat proteins (DPRs) produced by …

A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins

LM Castelli, YH Lin, A Sanchez-Martinez… - Science Translational …, 2023 - science.org
Hexanucleotide repeat expansions in C9ORF72 are the most common genetic cause of
familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Studies …

C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

L Fumagalli, FL Young, S Boeynaems, M De Decker… - Science …, 2021 - science.org
A hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause
of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this mutation …

C9orf72-derived arginine-rich poly-dipeptides impede phase modifiers

H Nanaura, H Kawamukai, A Fujiwara… - Nature …, 2021 - nature.com
Nuclear import receptors (NIRs) not only transport RNA-binding proteins (RBPs) but also
modify phase transitions of RBPs by recognizing nuclear localization signals (NLSs). Toxic …

[HTML][HTML] Stress granule assembly disrupts nucleocytoplasmic transport

K Zhang, JG Daigle, KM Cunningham, AN Coyne… - Cell, 2018 - cell.com
Defects in nucleocytoplasmic transport have been identified as a key pathogenic event in
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) mediated by a …