Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis
Axonal dysfunction is a common phenotype in neurodegenerative disorders, including in
amyotrophic lateral sclerosis (ALS), where the key pathological cell-type, the motor neuron …
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 …
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
Mutations in C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis
(ALS). Accumulating evidence implicates astrocytes as important non‐cell autonomous …
(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 …
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
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease with diverse etiologies.
Therefore, the identification of common disease mechanisms and therapeutics targeting …
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 …
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 …
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 …
orchestrates an attack on the motor nervous system that is unrelenting. Recent discoveries …
C9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis
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 …
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
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 …
and FTD. To uncover underlying pathogenic mechanisms, we found that DNA damage was …