[HTML][HTML] Phase separation of C9orf72 dipeptide repeats perturbs stress granule dynamics

S Boeynaems, E Bogaert, D Kovacs, A Konijnenberg… - Molecular cell, 2017 - cell.com
Liquid-liquid phase separation (LLPS) of RNA-binding proteins plays an important role in
the formation of multiple membrane-less organelles involved in RNA metabolism, including …

[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 …

Nuclear accumulation of mRNAs underlies G4C2‐repeat‐induced translational repression in a cellular model of C9orf72 ALS

S Rossi, A Serrano, V Gerbino, A Giorgi… - Journal of cell …, 2015 - journals.biologists.com
A common feature of non‐coding repeat expansion disorders is the accumulation of RNA
repeats as RNA foci in the nucleus and/or cytoplasm of affected cells. These RNA foci can …

[HTML][HTML] C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

S May, D Hornburg, MH Schludi, T Arzberger… - Acta …, 2014 - Springer
Hexanucleotide repeat expansion in C9orf72 is the most common pathogenic mutation in
patients with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration …

[HTML][HTML] An amyloid-like cascade hypothesis for C9orf72 ALS/FTD

D Edbauer, C Haass - Current opinion in neurobiology, 2016 - Elsevier
Highlights•Massive GGGGCC repeat expansion in C9orf72 is the most common cause of
ALS/FTD.•Repeat RNA sequesters RNA-binding proteins and inhibits nucleocytoplasmic …

[HTML][HTML] Cell-to-cell transmission of dipeptide repeat proteins linked to C9orf72-ALS/FTD

T Westergard, BK Jensen, X Wen, J Cai, E Kropf… - Cell reports, 2016 - cell.com
Aberrant hexanucleotide repeat expansions in C9orf72 are the most common genetic
change underlying amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) …

[HTML][HTML] Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

M Niblock, BN Smith, YB Lee, V Sardone… - Acta neuropathologica …, 2016 - Springer
Introduction The most common forms of amyotrophic lateral sclerosis and frontotemporal
dementia are caused by a large GGGGCC repeat expansion in the first intron of the C9orf72 …

C9ORF72 regulates stress granule formation and its deficiency impairs stress granule assembly, hypersensitizing cells to stress

N Maharjan, C Künzli, K Buthey, S Saxena - Molecular neurobiology, 2017 - Springer
Hexanucleotide repeat expansions in the C9ORF72 gene are causally associated with
frontotemporal lobar dementia (FTLD) and/or amyotrophic lateral sclerosis (ALS). The …

[HTML][HTML] ALS/FTD-associated C9ORF72 repeat RNA promotes phase transitions in vitro and in cells

MM Fay, PJ Anderson, P Ivanov - Cell reports, 2017 - cell.com
Membraneless RNA granules originate via phase separation events driven by multivalent
interactions. As RNA is the defining component of such granules, we examined how RNA …

[HTML][HTML] The role of dipeptide repeats in C9ORF72-related ALS-FTD

BD Freibaum, JP Taylor - Frontiers in molecular neuroscience, 2017 - frontiersin.org
Expansion of a hexanucleotide (GGGGCC) repeat in the gene chromosome 9 open reading
frame 72 (C9ORF72) is the most common cause of amyotrophic lateral sclerosis and …