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 …
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …
Amyotrophic lateral sclerosis: a clinical review
P Masrori, P Van Damme - European journal of neurology, 2020 - Wiley Online Library
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the
motor system, but in which extra‐motor manifestations are increasingly recognized. The loss …
motor system, but in which extra‐motor manifestations are increasingly recognized. The loss …
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 …
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes
J Humphrey, S Venkatesh, R Hasan, JT Herb… - Nature …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressively fatal neurodegenerative disease
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …
[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 …
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 …
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
C Depienne, JL Mandel - The American Journal of Human Genetics, 2021 - cell.com
Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …
which are polymorphic by nature and become highly unstable in a length-dependent …
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 …
Stress granules and neurodegeneration
Recent advances suggest that the response of RNA metabolism to stress has an important
role in the pathophysiology of neurodegenerative diseases, particularly amyotrophic lateral …
role in the pathophysiology of neurodegenerative diseases, particularly amyotrophic lateral …