Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation

RJ Mead, N Shan, HJ Reiser, F Marshall… - Nature Reviews Drug …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a devastating disease caused by degeneration of
motor neurons. As with all major neurodegenerative disorders, development of disease …

Molecular mechanisms underlying nucleotide repeat expansion disorders

I Malik, CP Kelley, ET Wang, PK Todd - Nature reviews Molecular cell …, 2021 - nature.com
The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

C9orf72-mediated ALS and FTD: multiple pathways to disease

R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …

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 …

Non-neuronal cells in amyotrophic lateral sclerosis—from pathogenesis to biomarkers

BF Vahsen, E Gray, AG Thompson, O Ansorge… - Nature Reviews …, 2021 - nature.com
The prevailing motor neuron-centric view of amyotrophic lateral sclerosis (ALS)
pathogenesis could be an important factor in the failure to identify disease-modifying therapy …

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 master energy homeostasis regulator PGC-1α exhibits an mRNA nuclear export function

SR Mihaylov, LM Castelli, YH Lin, A Gül, N Soni… - Nature …, 2023 - nature.com
PGC-1α plays a central role in maintaining mitochondrial and energy metabolism
homeostasis, linking external stimuli to transcriptional co-activation of genes involved in …

RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response

KM Green, MR Glineburg, MG Kearse… - Nature …, 2017 - nature.com
Repeat-associated non-AUG (RAN) translation allows for unconventional initiation at
disease-causing repeat expansions. As RAN translation contributes to pathogenesis in …

[HTML][HTML] Human stem cell models of neurodegeneration: From basic science of amyotrophic lateral sclerosis to clinical translation

E Giacomelli, BF Vahsen, EL Calder, Y Xu, J Scaber… - Cell Stem Cell, 2022 - cell.com
Neurodegenerative diseases are characterized by progressive cell loss leading to disruption
of the structure and function of the central nervous system. Amyotrophic lateral sclerosis …

Micro-RNAs secreted through astrocyte-derived extracellular vesicles cause neuronal network degeneration in C9orf72 ALS

A Varcianna, MA Myszczynska, LM Castelli, B O'Neill… - …, 2019 - thelancet.com
Background Astrocytes regulate neuronal function, synaptic formation and maintenance
partly through secreted extracellular vesicles (EVs). In amyotrophic lateral sclerosis (ALS) …