Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy

N Suzuki, A Nishiyama, H Warita, M Aoki - Journal of human genetics, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

ZY Zou, ZR Zhou, CH Che, CY Liu, RL He… - Journal of Neurology …, 2017 - jnnp.bmj.com
Background Genetic studies have shown that C9orf72, SOD1, TARDBP and FUS are the
most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a …

[HTML][HTML] Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis

J Root, P Merino, A Nuckols, M Johnson… - Neurobiology of disease, 2021 - Elsevier
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological …

The epidemiology of ALS: a conspiracy of genes, environment and time

A Al-Chalabi, O Hardiman - Nature Reviews Neurology, 2013 - nature.com
Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive neurodegenerative disease
of motor neurons, resulting in worsening weakness of voluntary muscles until death from …

Risk factors for amyotrophic lateral sclerosis

C Ingre, PM Roos, F Piehl, F Kamel… - Clinical epidemiology, 2015 - Taylor & Francis
Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease. It is typically
fatal within 2–5 years of symptom onset. The incidence of ALS is largely uniform across most …

[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 …

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

I Gijselinck, S Van Mossevelde, J van der Zee… - Molecular …, 2016 - nature.com
Pathological expansion of a G 4 C 2 repeat, located in the 5'regulatory region of C9orf72, is
the most common genetic cause of frontotemporal lobar degeneration (FTLD) and …

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population

J Beck, M Poulter, D Hensman, JD Rohrer… - The American Journal of …, 2013 - cell.com
Hexanucleotide repeat expansions in C9orf72 are a major cause of frontotemporal lobar
degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Understanding the disease …

Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

Z Xi, L Zinman, D Moreno, J Schymick, Y Liang… - The American Journal of …, 2013 - cell.com
The G 4 C 2 repeat expansion in C9orf72 is the most common known cause of amyotrophic
lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). We tested the …

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 …