Advances in molecular pathology, diagnosis, and treatment of amyotrophic lateral sclerosis

H Ilieva, M Vullaganti, J Kwan - bmj, 2023 - bmj.com
Although the past two decades have produced exciting discoveries in the genetics and
pathology of amyotrophic lateral sclerosis (ALS), progress in develo** an effective therapy …

The sense of antisense therapies in ALS

SH Van Daele, P Masrori, P Van Damme… - Trends in Molecular …, 2024 - cell.com
Abstract Treatment of patients with amyotrophic lateral sclerosis (ALS) has entered a new
era now that encouraging results about antisense oligonucleotides (ASOs) are becoming …

Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD

S Seddighi, YA Qi, AL Brown, OG Wilkins… - Science translational …, 2024 - science.org
Functional loss of TDP-43, an RNA binding protein genetically and pathologically linked to
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leads to the …

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

W Van Rheenen, RAA Van Der Spek, MK Bakker… - Nature …, 2021 - nature.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …

[HTML][HTML] Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

S Zhang, J Cooper-Knock, AK Weimer, M Shi, T Moll… - Neuron, 2022 - cell.com
Amyotrophic lateral sclerosis (ALS) is a complex disease that leads to motor neuron death.
Despite heritability estimates of 52%, genome-wide association studies (GWASs) have …

TDP-43 pathology: from noxious assembly to therapeutic removal

SS Keating, R San Gil, MEV Swanson, EL Scotter… - Progress in …, 2022 - Elsevier
Our understanding of amyotrophic lateral sclerosis and frontotemporal dementia has
advanced dramatically since the discovery of cytoplasmic TAR DNA-binding protein 43 (TDP …

Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

U Šušnjar, N Škrabar, AL Brown, Y Abbassi… - Communications …, 2022 - nature.com
Abstract TDP-43 (TAR DNA-binding protein 43) aggregation and redistribution are
recognised as a hallmark of amyotrophic lateral sclerosis and frontotemporal dementia. As …

Stage-specific control of oligodendrocyte survival and morphogenesis by TDP-43

D Heo, JP Ling, GC Molina-Castro, AJ Langseth… - Elife, 2022 - elifesciences.org
Generation of oligodendrocytes in the adult brain enables both adaptive changes in neural
circuits and regeneration of myelin sheaths destroyed by injury, disease, and normal aging …

Transcriptomic analysis of frontotemporal lobar degeneration with TDP-43 pathology reveals cellular alterations across multiple brain regions

R Hasan, J Humphrey, C Bettencourt, J Newcombe… - Acta …, 2022 - Springer
Frontotemporal lobar degeneration (FTLD) is a group of heterogeneous neurodegenerative
disorders affecting the frontal and temporal lobes of the brain. Nuclear loss and cytoplasmic …

Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains

M Chung, EK Carter, AM Veire, EB Dammer… - Acta …, 2024 - Springer
The aggregation, mislocalization, and phosphorylation of TDP-43 are pathologic hallmarks
of several neurodegenerative diseases and provide a defining criterion for the …