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 …
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
SR Chintalaphani, SS Pineda, IW Deveson… - Acta Neuropathologica …, 2021 - Springer
Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …
human neurological disease. They have an established role in more than 40 different …
Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice
Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease that
is characterized by motor neuron loss and that leads to paralysis and death 2–5 years after …
is characterized by motor neuron loss and that leads to paralysis and death 2–5 years after …
[HTML][HTML] Antisense Oligonucleotides for the Study and Treatment of ALS
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by
motor neuron loss. ALS is now associated with mutations in numerous genes, many of which …
motor neuron loss. ALS is now associated with mutations in numerous genes, many of which …
Update on recent advances in amyotrophic lateral sclerosis
In the last few years, our understanding of disease molecular mechanisms underpinning
ALS has advanced greatly, allowing the first steps in translating into clinical practice novel …
ALS has advanced greatly, allowing the first steps in translating into clinical practice novel …
Value of systematic genetic screening of patients with amyotrophic lateral sclerosis
Objective The clinical utility of routine genetic sequencing in amyotrophic lateral sclerosis
(ALS) is uncertain. Our aim was to determine whether routine targeted sequencing of 44 …
(ALS) is uncertain. Our aim was to determine whether routine targeted sequencing of 44 …
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative
diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis …
diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis …
[HTML][HTML] Emerging therapies and novel targets for TDP-43 proteinopathy in ALS/FTD
Nuclear clearance and cytoplasmic mislocalization of the essential RNA binding protein,
TDP-43, is a pathologic hallmark of amyotrophic lateral sclerosis, frontotemporal dementia …
TDP-43, is a pathologic hallmark of amyotrophic lateral sclerosis, frontotemporal dementia …
ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes
R Vieira de Sá, E Sudria-Lopez… - Nature …, 2024 - nature.com
Intermediate-length repeat expansions in ATAXIN-2 (ATXN2) are the strongest genetic risk
factor for amyotrophic lateral sclerosis (ALS). At the molecular level, ATXN2 intermediate …
factor for amyotrophic lateral sclerosis (ALS). At the molecular level, ATXN2 intermediate …
[HTML][HTML] The genetic architecture of ALS
Amyotrophic lateral sclerosis (ALS) is a heterogeneous group of neurological conditions
which have in common the progressive degeneration of upper and lower motor neurons …
which have in common the progressive degeneration of upper and lower motor neurons …