Decoding ALS: from genes to mechanism
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 …
disease. A plethora of genetic factors have been identified that drive the degeneration of …
Protein phase separation: a new phase in cell biology
Cellular compartments and organelles organize biological matter. Most well-known
organelles are separated by a membrane boundary from their surrounding milieu. There are …
organelles are separated by a membrane boundary from their surrounding milieu. There are …
Molecular mechanisms underlying nucleotide repeat expansion disorders
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 …
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 …
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 …
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
C9orf72 mutations are the most common cause of amyotrophic lateral sclerosis (ALS) and
frontotemporal dementia (FTD). Dipeptide repeat proteins (DPRs) produced by …
frontotemporal dementia (FTD). Dipeptide repeat proteins (DPRs) produced by …
[HTML][HTML] In situ structure of neuronal C9orf72 poly-GA aggregates reveals proteasome recruitment
Protein aggregation and dysfunction of the ubiquitin-proteasome system are hallmarks of
many neurodegenerative diseases. Here, we address the elusive link between these …
many neurodegenerative diseases. Here, we address the elusive link between these …
Non-AUG translation: a new start for protein synthesis in eukaryotes
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 …
start codon, recent advancements in ribosome footprint map** have revealed that non …
Amyotrophic lateral sclerosis: an update for 2018
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting motor neurons
and other neuronal cells, leading to severe disability and eventually death from ventilatory …
and other neuronal cells, leading to severe disability and eventually death from ventilatory …
Autophagy induction as a therapeutic strategy for neurodegenerative diseases
Autophagy is a major, conserved cellular pathway by which cells deliver cytoplasmic
contents to lysosomes for degradation. Genetic studies have revealed extensive links …
contents to lysosomes for degradation. Genetic studies have revealed extensive links …