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 …

Protein phase separation: a new phase in cell biology

S Boeynaems, S Alberti, NL Fawzi, T Mittag… - Trends in cell …, 2018 - cell.com
Cellular compartments and organelles organize biological matter. Most well-known
organelles are separated by a membrane boundary from their surrounding milieu. There are …

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 …

Phase separation of C9orf72 dipeptide repeats perturbs stress granule dynamics

S Boeynaems, E Bogaert, D Kovacs, A Konijnenberg… - Molecular cell, 2017 - cell.com
Liquid-liquid phase separation (LLPS) of RNA-binding proteins plays an important role in
the formation of multiple membrane-less organelles involved in RNA metabolism, including …

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

A Jovičić, J Mertens, S Boeynaems, E Bogaert… - Nature …, 2015 - nature.com
C9orf72 mutations are the most common cause of amyotrophic lateral sclerosis (ALS) and
frontotemporal dementia (FTD). Dipeptide repeat proteins (DPRs) produced by …

[HTML][HTML] In situ structure of neuronal C9orf72 poly-GA aggregates reveals proteasome recruitment

Q Guo, C Lehmer, A Martínez-Sánchez, T Rudack… - Cell, 2018 - cell.com
Protein aggregation and dysfunction of the ubiquitin-proteasome system are hallmarks of
many neurodegenerative diseases. Here, we address the elusive link between these …

Non-AUG translation: a new start for protein synthesis in eukaryotes

MG Kearse, JE Wilusz - Genes & development, 2017 - genesdev.cshlp.org
Although it was long thought that eukaryotic translation almost always initiates at an AUG
start codon, recent advancements in ribosome footprint map** have revealed that non …

Amyotrophic lateral sclerosis: an update for 2018

B Oskarsson, TF Gendron, NP Staff - Mayo clinic proceedings, 2018 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting motor neurons
and other neuronal cells, leading to severe disability and eventually death from ventilatory …

Autophagy induction as a therapeutic strategy for neurodegenerative diseases

A Djajadikerta, S Keshri, M Pavel, R Prestil… - Journal of molecular …, 2020 - Elsevier
Autophagy is a major, conserved cellular pathway by which cells deliver cytoplasmic
contents to lysosomes for degradation. Genetic studies have revealed extensive links …