Ablation of C9orf72 together with excitotoxicity induces ALS in rats

W Dong, Y Ma, F Guan, X Zhang, W Chen… - The FEBS …, 2021 - Wiley Online Library
Pathogenesis of familial amyotrophic lateral sclerosis (ALS) linked to expansion of the
chromosome 9 open reading frame 72 (C9orf72) hexanucleotide repeat that impairs …

Knock in of a hexanucleotide repeat expansion in the C9orf72 gene induces ALS in rats

W Dong, L Zhang, C Sun, X Gao, F Guan… - Animal Models and …, 2020 - Wiley Online Library
Abstract Background The GGGGCC (G4C2) repeat expansion in the human open reading
frame 72 on chromosome 9, C9orf72, is the most common cause of amyotrophic lateral …

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 …

Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog

AJ Langseth, J Kim, JE Ugolino, Y Shah, HY Hwang… - Scientific reports, 2017 - nature.com
A hexanucleotide repeat expansion in the C9orf72 gene is the most common cause of
inherited forms of the neurodegenerative disease amyotrophic lateral sclerosis (ALS). Both …

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis

S Ciura, S Lattante, I Le Ber, M Latouche… - Annals of …, 2013 - Wiley Online Library
Objective To define the role that repeat expansions of a GGGGCC hexanucleotide sequence
of the C9orf72 gene play in the pathogenesis of amyotrophic lateral sclerosis (ALS) and …

C9orf72 deficiency promotes motor deficits of a C9ALS/FTD mouse model in a dose-dependent manner

Q Shao, C Liang, Q Chang, W Zhang, M Yang… - Acta neuropathologica …, 2019 - Springer
G4C2 hexanucleotide repeat expansions in the first intron of C9ORF72 are the most
common cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia …

Synaptopathy mechanisms in ALS caused by C9orf72 repeat expansion

AL Nishimura, N Arias - Frontiers in cellular neuroscience, 2021 - frontiersin.org
Amyotrophic Lateral Sclerosis (ALS) is a complex neurodegenerative disease caused by
degeneration of motor neurons (MNs). ALS pathogenic features include accumulation of …

Isoform‐specific antibodies reveal distinct subcellular localizations of C 9orf72 in amyotrophic lateral sclerosis

S Xiao, L MacNair, P McGoldrick… - Annals of …, 2015 - Wiley Online Library
Objective A noncoding hexanucleotide repeat expansion in C9orf72 is the most common
cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) …

Hyperactivity of Purkinje cell and motor deficits in C9orf72 knockout mice

Y Liu, H Xing, AF Ernst, C Liu, C Maugee… - Molecular and Cellular …, 2022 - Elsevier
A hexanucleotide (GGGGCC) repeat expansion in the first intron of the C9ORF72 gene is
the most frequently reported genetic cause of amyotrophic lateral sclerosis (ALS) and …

ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons

P Zelina, AA de Ruiter, C Kolsteeg… - Acta neuropathologica …, 2024 - Springer
Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease leading to
motor neuron loss. Currently mutations in> 40 genes have been linked to ALS, but the …