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 …

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 …

Globally reduced N6-methyladenosine (m6A) in C9ORF72-ALS/FTD dysregulates RNA metabolism and contributes to neurodegeneration

Y Li, X Dou, J Liu, Y Xiao, Z Zhang, L Hayes, R Wu… - Nature …, 2023 - nature.com
Repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD). Here we show that N 6 …

RNA contributions to the form and function of biomolecular condensates

C Roden, AS Gladfelter - Nature Reviews Molecular Cell Biology, 2021 - nature.com
Biomolecular condensation partitions cellular contents and has important roles in stress
responses, maintaining homeostasis, development and disease. Many nuclear and …

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 …

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 …

Alternative polyadenylation of mRNA precursors

B Tian, JL Manley - Nature reviews Molecular cell biology, 2017 - nature.com
Alternative polyadenylation (APA) is an RNA-processing mechanism that generates distinct
3′ termini on mRNAs and other RNA polymerase II transcripts. It is widespread across all …

Emerging roles for intermolecular RNA-RNA interactions in RNP assemblies

B Van Treeck, R Parker - Cell, 2018 - cell.com
Eukaryotic cells contain large assemblies of RNA and protein, referred to as
ribonucleoprotein (RNP) granules, which include cytoplasmic P-bodies, stress granules, and …

RNA self-assembly contributes to stress granule formation and defining the stress granule transcriptome

B Van Treeck, DSW Protter… - Proceedings of the …, 2018 - National Acad Sciences
Stress granules are higher order assemblies of nontranslating mRNAs and proteins that
form when translation initiation is inhibited. Stress granules are thought to form by protein …