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 …

State of play in amyotrophic lateral sclerosis genetics

AE Renton, A Chiò, BJ Traynor - Nature neuroscience, 2014 - nature.com
Considerable progress has been made in unraveling the genetic etiology of amyotrophic
lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the …

[HTML][HTML] Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons

BJ Wainger, E Kiskinis, C Mellin, O Wiskow, SSW Han… - Cell reports, 2014 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease of the motor
nervous system. We show using multielectrode array and patch-clamp recordings that …

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

D Sareen, JG O'Rourke, P Meera… - Science translational …, 2013 - science.org
Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative condition characterized
by loss of motor neurons in the brain and spinal cord. Expansions of a hexanucleotide …

Controversies and priorities in amyotrophic lateral sclerosis

MR Turner, O Hardiman, M Benatar, BR Brooks… - The Lancet …, 2013 - thelancet.com
Two decades after the discovery that 20% of familial amyotrophic lateral sclerosis (ALS)
cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial …

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

PM Andersen, A Al-Chalabi - Nature Reviews Neurology, 2011 - nature.com
Hereditary amyotrophic lateral sclerosis (ALS) encompasses a group of genetic disorders
characterized by adult-onset loss of the lower and upper motor neuron systems, often with …

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

L Ferraiuolo, J Kirby, AJ Grierson, M Sendtner… - Nature Reviews …, 2011 - nature.com
Amyotrophic lateral sclerosis (ALS) is a genetically diverse disease. At least 15 ALS-
associated gene loci have so far been identified, and the causative gene is known in …

[HTML][HTML] Amyotrophic lateral sclerosis: an update for 2013 clinical features, pathophysiology, management and therapeutic trials

PH Gordon - Aging and disease, 2013 - ncbi.nlm.nih.gov
Amyotrophic lateral sclerosis (ALS), first described by Jean-Martin Charcot in the 1870s, is
an age-related disorder that leads to degeneration of motor neurons. The disease begins …

A HapMap harvest of insights into the genetics of common disease

TA Manolio, LD Brooks… - The Journal of clinical …, 2008 - Am Soc Clin Investig
The International HapMap Project was designed to create a genome-wide database of
patterns of human genetic variation, with the expectation that these patterns would be useful …

Human embryonic stem cell-derived motor neurons are sensitive to the toxic effect of glial cells carrying an ALS-causing mutation

FP Di Giorgio, GL Boulting, S Bobrowicz, KC Eggan - Cell stem cell, 2008 - cell.com
It has been proposed that human embryonic stem cells could be used to provide an
inexhaustible supply of differentiated cell types for the study of disease processes. Although …