Proteomics and C9orf72 neuropathology identify ribosomes as poly-GR/PR interactors driving toxicity

H Hartmann, D Hornburg, M Czuppa… - Life science …, 2018 - life-science-alliance.org
Frontotemporal dementia and amyotrophic lateral sclerosis patients with C9orf72 mutation
show cytoplasmic poly-GR and poly-PR aggregates. Short poly-(Gly-Arg) and poly-(Pro …

[HTML][HTML] Arginine in C9ORF72 dipolypeptides mediates promiscuous proteome binding and multiple modes of toxicity

M Radwan, CS Ang, AR Ormsby, D Cox, JC Daly… - Molecular & Cellular …, 2020 - ASBMB
C9ORF72-associated Motor Neuron Disease patients feature abnormal expression of 5
dipeptide repeat (DPR) polymers. Here we used quantitative proteomics in a mouse …

Transcriptome-wide RNA binding analysis of C9orf72 poly (PR) dipeptides

R Balendra, IR de Los Mozos, HM Odeh… - Life Science …, 2023 - life-science-alliance.org
An intronic GGGGCC repeat expansion in C9orf72 is a common genetic cause of
amyotrophic lateral sclerosis and frontotemporal dementia. The repeats are transcribed in …

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

YJ Zhang, TF Gendron, MTW Ebbert, AD O'Raw… - Nature medicine, 2018 - nature.com
The major genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis
(ALS) is a C9orf72 G4C2 repeat expansion,. Proposed mechanisms by which the expansion …

[HTML][HTML] C9orf72 dipeptide repeats impair the assembly, dynamics, and function of membrane-less organelles

KH Lee, P Zhang, HJ Kim, DM Mitrea, M Sarkar… - Cell, 2016 - cell.com
Expansion of a hexanucleotide repeat GGGGCC (G 4 C 2) in C9ORF72 is the most common
cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Transcripts …

[HTML][HTML] Poly (GR) interacts with key stress granule factors promoting its assembly into cytoplasmic inclusions

J Park, Y Wu, W Shao, TF Gendron, SJF van der Spek… - Cell reports, 2023 - cell.com
C9orf72 repeat expansions are the most common genetic cause of frontotemporal dementia
(FTD) and amyotrophic lateral sclerosis (ALS). Poly (GR) proteins are toxic to neurons by …

Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity

YJ Zhang, L Guo, PK Gonzales, TF Gendron, Y Wu… - Science, 2019 - science.org
INTRODUCTION Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS)
are fatal neurodegenerative diseases that share clinical and neuropathological features …

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

YB Lee, P Baskaran, J Gomez-Deza… - Human molecular …, 2017 - academic.oup.com
Abstract An intronic GGGGCC (G4C2) hexanucleotide repeat expansion in C9orf72 is the
most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia …

ZNF598 co-translationally titrates poly(GR) protein implicated in the pathogenesis of C9ORF72-associated ALS/FTD

J Park, J Lee, J Kim, J Lee, H Park… - Nucleic Acids …, 2021 - academic.oup.com
C9ORF72-derived dipeptide repeat proteins have emerged as the pathogenic cause of
neurodegeneration in amyotrophic lateral sclerosis and frontotemporal dementia (C9 …

Poly-PR in C9ORF72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Causes Neurotoxicity by Clathrin-Dependent Endocytosis

R Wang, X Xu, Z Hao, S Zhang, D Wu, H Sun, C Mu… - Neuroscience …, 2019 - Springer
GGGGCC repeat expansions in the C9ORF72 gene are the most common cause of
amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD). It has been …