Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

F Akçimen, ER Lopez, JE Landers, A Nath… - Nature Reviews …, 2023 - nature.com
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …

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 …

Stress granules and neurodegeneration

B Wolozin, P Ivanov - Nature Reviews Neuroscience, 2019 - nature.com
Recent advances suggest that the response of RNA metabolism to stress has an important
role in the pathophysiology of neurodegenerative diseases, particularly amyotrophic lateral …

[HTML][HTML] A cellular taxonomy of the adult human spinal cord

A Yadav, KJE Matson, L Li, I Hua, J Petrescu, K Kang… - Neuron, 2023 - cell.com
The mammalian spinal cord functions as a community of cell types for sensory processing,
autonomic control, and movement. While animal models have advanced our understanding …

Decoding ALS: from genes to mechanism

JP Taylor, RH Brown Jr, DW Cleveland - Nature, 2016 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressive and uniformly fatal neurodegenerative
disease. A plethora of genetic factors have been identified that drive the degeneration of …

Genome-wide analyses identify KIF5A as a novel ALS gene

A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri… - Neuron, 2018 - cell.com
To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

R Chia, A Chiò, BJ Traynor - The Lancet Neurology, 2018 - thelancet.com
Background The disease course of amyotrophic lateral sclerosis (ALS) is rapid and,
because its pathophysiology is unclear, few effective treatments are available. Genetic …

ATPase-modulated stress granules contain a diverse proteome and substructure

S Jain, JR Wheeler, RW Walters, A Agrawal, A Barsic… - Cell, 2016 - cell.com
Stress granules are mRNA-protein granules that form when translation initiation is limited,
and they are related to pathological granules in various neurodegenerative diseases. Super …

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

JR Klim, LA Williams, F Limone… - Nature …, 2019 - nature.com
The findings that amyotrophic lateral sclerosis (ALS) patients almost universally display
pathological mislocalization of the RNA-binding protein TDP-43 and that mutations in its …

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 …