C9orf72-mediated ALS and FTD: multiple pathways to disease

R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …

C9ORF72: what it is, what it does, and why it matters

J Smeyers, EG Banchi, M Latouche - Frontiers in cellular …, 2021 - frontiersin.org
When the non-coding repeat expansion in the C9ORF72 gene was discovered to be the
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …

Nearly 30 years of animal models to study amyotrophic lateral sclerosis: a historical overview and future perspectives

T Bonifacino, RA Zerbo, M Balbi, C Torazza… - International journal of …, 2021 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a fatal, multigenic, multifactorial, and non-cell
autonomous neurodegenerative disease characterized by upper and lower motor neuron …

Synaptic dysfunction in ALS and FTD: anatomical and molecular changes provide insights into mechanisms of disease

PA Gelon, PA Dutchak, CF Sephton - Frontiers in Molecular …, 2022 - frontiersin.org
Synaptic loss is a pathological feature of all neurodegenerative diseases including
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). ALS is a disease of …

Modelling amyotrophic lateral sclerosis in rodents

TW Todd, L Petrucelli - Nature Reviews Neuroscience, 2022 - nature.com
The efficient study of human disease requires the proper tools, one of the most crucial of
which is an accurate animal model that faithfully recapitulates the human condition. The …

Small junction, big problems: Neuromuscular junction pathology in mouse models of amyotrophic lateral sclerosis (ALS)

A Alhindi, I Boehm, H Chaytow - Journal of anatomy, 2022 - Wiley Online Library
Amyotrophic lateral sclerosis (ALS) is a motor neuron disease with an extremely
heterogeneous clinical and genetic phenotype. In our efforts to find therapies for ALS, the …

Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion

M Babić Leko, V Župunski, J Kirincich… - Behavioural …, 2019 - Wiley Online Library
Two clinically distinct diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD), have recently been classified as two extremes of the FTD/ALS spectrum …

Synaptic dysfunction and altered excitability in C9ORF72 ALS/FTD

A Starr, R Sattler - Brain research, 2018 - Elsevier
Amyotrophic lateral sclerosis (ALS) is characterized by a progressive degeneration of upper
and lower motor neurons, resulting in fatal paralysis due to denervation of the muscle. Due …

Pathological insights from amyotrophic lateral sclerosis animal models: comparisons, limitations, and challenges

L Zhu, S Li, XJ Li, P Yin - Translational neurodegeneration, 2023 - Springer
In order to dissect amyotrophic lateral sclerosis (ALS), a multigenic, multifactorial, and
progressive neurodegenerative disease with heterogeneous clinical presentations …

[HTML][HTML] NRF2 as a therapeutic opportunity to impact in the molecular roadmap of ALS

J Jiménez-Villegas, L Ferraiuolo, RJ Mead… - Free Radical Biology …, 2021 - Elsevier
Abstract Amyotrophic Lateral Sclerosis (ALS) is a devastating heterogeneous disease with
still no convincing therapy. To identify the most strategically significant hallmarks for …