Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons
An intronic GGGGCC repeat expansion in C9ORF72 is the most common cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the pathogenic …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the pathogenic …
Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72
Q Zhu, J Jiang, TF Gendron, M McAlonis-Downes… - Nature …, 2020 - nature.com
Hexanucleotide expansions in C9orf72, which encodes a predicted guanine exchange
factor, are the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and …
factor, are the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and …
C 9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits
M Koppers, AM Blokhuis, HJ Westeneng… - Annals of …, 2015 - Wiley Online Library
Objective How hexanucleotide (GGGGCC) repeat expansions in C9ORF72 cause
amyotrophic lateral sclerosis (ALS) remains poorly understood. Both gain‐and loss‐of …
amyotrophic lateral sclerosis (ALS) remains poorly understood. Both gain‐and loss‐of …
[HTML][HTML] Gain of toxicity from ALS/FTD-linked repeat expansions in C9ORF72 is alleviated by antisense oligonucleotides targeting GGGGCC-containing RNAs
Hexanucleotide expansions in C9ORF72 are the most frequent genetic cause of
amyotrophic lateral sclerosis and frontotemporal dementia. Disease mechanisms were …
amyotrophic lateral sclerosis and frontotemporal dementia. Disease mechanisms were …
The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
K Mori, SM Weng, T Arzberger, S May, K Rentzsch… - Science, 2013 - science.org
Expansion of a GGGGCC hexanucleotide repeat upstream of the C9orf72 coding region is
the most common cause of familial frontotemporal lobar degeneration and amyotrophic …
the most common cause of familial frontotemporal lobar degeneration and amyotrophic …
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
Abstract The GGGGCC (G4C2) repeat expansion in a noncoding region of C9orf72 is the
most common cause of sporadic and familial forms of amyotrophic lateral sclerosis and …
most common cause of sporadic and familial forms of amyotrophic lateral sclerosis and …
[HTML][HTML] C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?
A repeat expansion in C9orf72 is responsible for the characteristic neurodegeneration in
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in a still unresolved …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in a still unresolved …
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion …
M Van Blitterswijk, M DeJesus-Hernandez… - Current opinion in …, 2012 - journals.lww.com
How do C9ORF72 repeat expansions cause amyotrophic lateral s... : Current Opinion in
Neurology How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and …
Neurology How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and …
[HTML][HTML] C9orf72 BAC transgenic mice display typical pathologic features of ALS/FTD
JG O'Rourke, L Bogdanik, A Muhammad, TF Gendron… - Neuron, 2015 - cell.com
Noncoding expansions of a hexanucleotide repeat (GGGGCC) in the C9orf72 gene are the
most common cause of familial amyotrophic lateral sclerosis and frontotemporal dementia …
most common cause of familial amyotrophic lateral sclerosis and frontotemporal dementia …
[HTML][HTML] There has been an awakening: emerging mechanisms of C9orf72 mutations in FTD/ALS
AD Gitler, H Tsuiji - Brain research, 2016 - Elsevier
The discovery of C9orf72 mutations as the most common genetic cause of amyotrophic
lateral sclerosis (ALS) and frontotemporal dementia (FTD) has awakened a surge of interest …
lateral sclerosis (ALS) and frontotemporal dementia (FTD) has awakened a surge of interest …