ALS genetics, mechanisms, and therapeutics: where are we now?

R Mejzini, LL Flynn, IL Pitout, S Fletcher… - Frontiers in …, 2019 - frontiersin.org
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …

Amyotrophic lateral sclerosis-frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria

MJ Strong, S Abrahams, LH Goldstein… - … lateral sclerosis and …, 2017 - Taylor & Francis
This article presents the revised consensus criteria for the diagnosis of frontotemporal
dysfunction in amyotrophic lateral sclerosis (ALS) based on an international research …

[HTML][HTML] TDP-43 proteinopathy and ALS: insights into disease mechanisms and therapeutic targets

EL Scotter, HJ Chen, CE Shaw - Neurotherapeutics, 2015 - Elsevier
Therapeutic options for patients with amyotrophic lateral sclerosis (ALS) are currently
limited. However, recent studies show that almost all cases of ALS, as well as tau-negative …

Motor neuron susceptibility in ALS/FTD

AMG Ragagnin, S Shadfar, M Vidal… - Frontiers in …, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
death of both upper and lower motor neurons (MNs) in the brain, brainstem and spinal cord …

Identification of risk factors associated with onset and progression of amyotrophic lateral sclerosis using systematic review and meta-analysis

MD Wang, J Little, J Gomes, NR Cashman, D Krewski - Neurotoxicology, 2017 - Elsevier
Although amyotrophic lateral sclerosis (ALS) was identified as a neurological condition 150
years ago, risk factors related to the onset and progression of ALS remain largely unknown …

Prion-like propagation of protein misfolding and aggregation in amyotrophic lateral sclerosis

L McAlary, SS Plotkin, JJ Yerbury… - Frontiers in molecular …, 2019 - frontiersin.org
The discovery that prion protein can misfold into a pathological conformation that encodes
structural information capable of both propagation and inducing severe neuropathology has …

Much more than a scaffold: cytoskeletal proteins in neurological disorders

DC Muñoz-Lasso, C Romá-Mateo, FV Pallardó… - Cells, 2020 - mdpi.com
Recent observations related to the structure of the cytoskeleton in neurons and novel
cytoskeletal abnormalities involved in the pathophysiology of some neurological diseases …

The neglected genes of ALS: cytoskeletal dynamics impact synaptic degeneration in ALS

MJ Castellanos-Montiel, M Chaineau… - Frontiers in Cellular …, 2020 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that selectively affects
motor neurons (MNs) of the cortex, brainstem, and spinal cord. Several genes have been …

Shortened TDP43 isoforms upregulated by neuronal hyperactivity drive TDP43 pathology in ALS

K Weskamp, EM Tank, R Miguez… - The Journal of …, 2020 - Am Soc Clin Investig
Cortical hyperexcitability and mislocalization of the RNA-binding protein TDP43 are highly
conserved features in amyotrophic lateral sclerosis (ALS). Nevertheless, the relationship …

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 …