Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation
Amyotrophic lateral sclerosis (ALS) is a devastating disease caused by degeneration of
motor neurons. As with all major neurodegenerative disorders, development of disease …
motor neurons. As with all major neurodegenerative disorders, development of disease …
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 …
ALS genetics, mechanisms, and therapeutics: where are we now?
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 …
as the number of genes associated with the disease risk and pathogenesis, and the cellular …
State of play in amyotrophic lateral sclerosis genetics
Considerable progress has been made in unraveling the genetic etiology of amyotrophic
lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the …
lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the …
[HTML][HTML] Phase separation and neurodegenerative diseases: a disturbance in the force
A Zbinden, M Pérez-Berlanga, P De Rossi… - Developmental cell, 2020 - cell.com
Protein aggregation is the main hallmark of neurodegenerative diseases. Many proteins
found in pathological inclusions are known to undergo liquid-liquid phase separation, a …
found in pathological inclusions are known to undergo liquid-liquid phase separation, a …
Molecular mechanisms of TDP-43 misfolding and pathology in amyotrophic lateral sclerosis
TAR DNA binding protein 43 (TDP-43) is a versatile RNA/DNA binding protein involved in
RNA-related metabolism. Hyper-phosphorylated and ubiquitinated TDP-43 deposits act as …
RNA-related metabolism. Hyper-phosphorylated and ubiquitinated TDP-43 deposits act as …
Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis
Breakthrough discoveries identifying common genetic causes for amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …
RNA mis-splicing in disease
MM Scotti, MS Swanson - Nature Reviews Genetics, 2016 - nature.com
The human transcriptome is composed of a vast RNA population that undergoes further
diversification by splicing. Detecting specific splice sites in this large sequence pool is the …
diversification by splicing. Detecting specific splice sites in this large sequence pool is the …
Beyond aggregation: Pathological phase transitions in neurodegenerative disease
Over the past decade, phase transitions have emerged as a fundamental mechanism of
cellular organization. In parallel, a wealth of evidence has accrued indicating that …
cellular organization. In parallel, a wealth of evidence has accrued indicating that …
ALS genetics: gains, losses, and implications for future therapies
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …