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

MA Van Es, O Hardiman, A Chio, A Al-Chalabi… - The Lancet, 2017 - thelancet.com
Amyotrophic lateral sclerosis is characterised by the progressive loss of motor neurons in
the brain and spinal cord. This neurodegenerative syndrome shares pathobiological …

Neurofilaments and neurofilament proteins in health and disease

A Yuan, MV Rao, RA Nixon - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Neurofilaments (NFs) are unique among tissue-specific classes of intermediate filaments
(IFs) in being heteropolymers composed of four subunits (NF-L [neurofilament light]; NF-M …

Amyotrophic lateral sclerosis

O Hardiman, A Al-Chalabi, A Chio, EM Corr… - Nature reviews Disease …, 2017 - nature.com
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized
by the degeneration of both upper and lower motor neurons, which leads to muscle …

The genetics and neuropathology of amyotrophic lateral sclerosis

A Al-Chalabi, A Jones, C Troakes, A King… - Acta …, 2012 - Springer
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motor neurons
leading to death from respiratory failure within about 3 years of symptom onset. A family …

Maternal plasma folate impacts differential DNA methylation in an epigenome-wide meta-analysis of newborns

BR Joubert, HT Den Dekker, JF Felix, J Bohlin… - Nature …, 2016 - nature.com
Folate is vital for fetal development. Periconceptional folic acid supplementation and food
fortification are recommended to prevent neural tube defects. Mechanisms whereby …

Genetics of amyotrophic lateral sclerosis: an update

S Chen, P Sayana, X Zhang, W Le - Molecular neurodegeneration, 2013 - Springer
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder involving
both upper motor neurons (UMN) and lower motor neurons (LMN). Enormous research has …

Emerging mechanisms of molecular pathology in ALS

OM Peters, M Ghasemi… - The Journal of clinical …, 2015 - Am Soc Clin Investig
Amyotrophic lateral sclerosis (ALS) is a devastating degenerative disease characterized by
progressive loss of motor neurons in the motor cortex, brainstem, and spinal cord. Although …

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 …

The role of neurofilament aggregation in neurodegeneration: lessons from rare inherited neurological disorders

A Didonna, P Opal - Molecular neurodegeneration, 2019 - Springer
Many neurodegenerative disorders, including Parkinson's, Alzheimer's, and amyotrophic
lateral sclerosis, are well known to involve the accumulation of disease-specific proteins …