Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis

AR Mehta, JM Gregory, O Dando, RN Carter… - Acta …, 2021 - Springer
Axonal dysfunction is a common phenotype in neurodegenerative disorders, including in
amyotrophic lateral sclerosis (ALS), where the key pathological cell-type, the motor neuron …

Knocking out C9ORF72 exacerbates axonal trafficking defects associated with hexanucleotide repeat expansion and reduces levels of heat shock proteins

M Abo-Rady, N Kalmbach, A Pal, C Schludi, A Janosch… - Stem Cell Reports, 2020 - cell.com
In amyotrophic lateral sclerosis (ALS) motor neurons (MNs) undergo dying-back, where the
distal axon degenerates before the soma. The hexanucleotide repeat expansion (HRE) in …

Mutant C9orf72 human iPSC‐derived astrocytes cause non‐cell autonomous motor neuron pathophysiology

C Zhao, AC Devlin, AK Chouhan, BT Selvaraj… - Glia, 2020 - Wiley Online Library
Mutations in C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis
(ALS). Accumulating evidence implicates astrocytes as important non‐cell autonomous …

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 …

[HTML][HTML] Identification and therapeutic rescue of autophagosome and glutamate receptor defects in C9ORF72 and sporadic ALS neurons

Y Shi, ST Hung, G Rocha, S Lin, GR Linares… - JCI insight, 2019 - ncbi.nlm.nih.gov
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease with diverse etiologies.
Therefore, the identification of common disease mechanisms and therapeutics targeting …

Disruption of ER‐mitochondria tethering and signalling in C9orf72‐associated amyotrophic lateral sclerosis and frontotemporal dementia

P Gomez‐Suaga, GM Mórotz, A Markovinovic… - Aging …, 2022 - Wiley Online Library
Hexanucleotide repeat expansions in C9orf72 are the most common cause of familial
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The mechanisms by …

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 …

Genetic convergence brings clarity to the enigmatic red line in ALS

C Cook, L Petrucelli - Neuron, 2019 - cell.com
Amyotrophic lateral sclerosis (ALS) is an aggressive neurodegenerative disorder that
orchestrates an attack on the motor nervous system that is unrelenting. Recent discoveries …

C9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis

SP Allen, B Hall, R Woof, L Francis, N Gatto, AC Shaw… - Brain, 2019 - academic.oup.com
It is important to understand how the disease process affects the metabolic pathways in
amyotrophic lateral sclerosis and whether these pathways can be manipulated to ameliorate …

Poly (GR) in C9ORF72-related ALS/FTD compromises mitochondrial function and increases oxidative stress and DNA damage in iPSC-derived motor neurons

R Lopez-Gonzalez, Y Lu, TF Gendron, A Karydas… - Neuron, 2016 - cell.com
GGGGCC repeat expansions in C9ORF72 are the most common genetic cause of both ALS
and FTD. To uncover underlying pathogenic mechanisms, we found that DNA damage was …