ALS genetics: gains, losses, and implications for future therapies

G Kim, O Gautier, E Tassoni-Tsuchida, XR Ma… - Neuron, 2020 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …

Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

SC Ling, M Polymenidou, DW Cleveland - Neuron, 2013 - cell.com
Breakthrough discoveries identifying common genetic causes for amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …

Pharmacotherapy for amyotrophic lateral sclerosis: a review of approved and upcoming agents

SA Johnson, T Fang, F De Marchi, D Neel… - Drugs, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder
involving loss of upper and lower motor neurons, with most cases ending in death within 3–5 …

Protein aggregation in amyotrophic lateral sclerosis

AM Blokhuis, EJN Groen, M Koppers… - Acta …, 2013 - Springer
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
aggregation of ubiquitinated proteins in affected motor neurons. Recent studies have …

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

C Pottier, KF Bieniek, NC Finch, M van de Vorst… - Acta …, 2015 - Springer
Frontotemporal lobar degeneration with TAR DNA-binding protein 43 inclusions (FTLD-
TDP) is the most common pathology associated with frontotemporal dementia (FTD). Repeat …

Ubiquitin-independent function of optineurin in autophagic clearance of protein aggregates

J Korac, V Schaeffer, I Kovacevic… - Journal of cell …, 2013 - journals.biologists.com
Aggregation of misfolded proteins and the associated loss of neurons are considered a
hallmark of numerous neurodegenerative diseases. Optineurin is present in protein …

ALS: A bucket of genes, environment, metabolism and unknown ingredients

M Zufiria, FJ Gil-Bea, R Fernandez-Torron… - Progress in …, 2016 - Elsevier
The scientific scenario of amyotrophic lateral sclerosis (ALS) has dramatically changed
since TDP-43 aggregates were discovered in 2006 as the main component of the neuronal …

Amyotrophic lateral sclerosis: a neurodegenerative motor neuron disease with ocular involvement

P Rojas, AI Ramírez, JA Fernández-Albarral… - Frontiers in …, 2020 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that causes
degeneration of the lower and upper motor neurons and is the most prevalent motor neuron …

Misregulated RNA processing in amyotrophic lateral sclerosis

M Polymenidou, C Lagier-Tourenne, KR Hutt… - Brain research, 2012 - Elsevier
Amyotrophic lateral sclerosis (ALS) research is undergoing an era of unprecedented
discoveries with the identification of new genes as major genetic causes of this disease …

Dysfunction of optineurin in amyotrophic lateral sclerosis and glaucoma

RP Toth, JD Atkin - Frontiers in immunology, 2018 - frontiersin.org
Neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS), frontotemporal
dementia, and glaucoma, affect millions of people worldwide. ALS is caused by the loss of …