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) …
[HTML][HTML] 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 …
Re-engineering the adenine deaminase TadA-8e for efficient and specific CRISPR-based cytosine base editing
Cytosine base editors (CBEs) efficiently generate precise C· G-to-T· A base conversions, but
the activation-induced cytidine deaminase/apolipoprotein B mRNA-editing enzyme catalytic …
the activation-induced cytidine deaminase/apolipoprotein B mRNA-editing enzyme catalytic …
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 …
[HTML][HTML] Molecular mechanisms of TDP-43 misfolding and pathology in amyotrophic lateral sclerosis
A Prasad, V Bharathi, V Sivalingam… - Frontiers in molecular …, 2019 - frontiersin.org
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 …
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 …
[PDF][PDF] Genome-wide analyses identify KIF5A as a novel ALS gene
To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …
[HTML][HTML] A CRISPRi/a platform in human iPSC-derived microglia uncovers regulators of disease states
NM Dräger, SM Sattler, CTL Huang, OM Teter… - Nature …, 2022 - nature.com
Microglia are emerging as key drivers of neurological diseases. However, we lack a
systematic understanding of the underlying mechanisms. Here, we present a screening …
systematic understanding of the underlying mechanisms. Here, we present a screening …
Amyotrophic lateral sclerosis-frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria
MJ Strong, S Abrahams, LH Goldstein… - … lateral sclerosis and …, 2017 - Taylor & Francis
This article presents the revised consensus criteria for the diagnosis of frontotemporal
dysfunction in amyotrophic lateral sclerosis (ALS) based on an international research …
dysfunction in amyotrophic lateral sclerosis (ALS) based on an international research …
[PDF][PDF] TIA1 mutations in amyotrophic lateral sclerosis and frontotemporal dementia promote phase separation and alter stress granule dynamics
IR Mackenzie, AM Nicholson, M Sarkar, J Messing… - Neuron, 2017 - cell.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related
neurodegenerative disorders with shared genetic etiologies and overlapping clinical and …
neurodegenerative disorders with shared genetic etiologies and overlapping clinical and …