Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation

RJ Mead, N Shan, HJ Reiser, F Marshall… - Nature Reviews Drug …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a devastating disease caused by degeneration of
motor neurons. As with all major neurodegenerative disorders, development of disease …

Disruption of axonal transport in neurodegeneration

SH Berth, TE Lloyd - The Journal of Clinical Investigation, 2023 - Am Soc Clin Investig
Neurons are markedly compartmentalized, which makes them reliant on axonal transport to
maintain their health. Axonal transport is important for anterograde delivery of newly …

Mechanism of STMN2 cryptic splice-polyadenylation and its correction for TDP-43 proteinopathies

MW Baughn, Z Melamed, J López-Erauskin… - Science, 2023 - science.org
Loss of nuclear TDP-43 is a hallmark of neurodegeneration in TDP-43 proteinopathies,
including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 …

Stress granules, RNA-binding proteins and polyglutamine diseases: too much aggregation?

A Marcelo, R Koppenol, LP de Almeida, CA Matos… - Cell death & …, 2021 - nature.com
Stress granules (SGs) are membraneless cell compartments formed in response to different
stress stimuli, wherein translation factors, mRNAs, RNA-binding proteins (RBPs) and other …

The role of TDP-43 in neurodegenerative disease

YZ Liao, J Ma, JZ Dou - Molecular neurobiology, 2022 - Springer
In recent years, more and more neurodegenerative diseases, such as ALS, FTLD and AD,
have been found to share a common pathological feature, which is the depletion of TDP-43 …

HDAC6 inhibition restores TDP‐43 pathology and axonal transport defects in human motor neurons with TARDBP mutations

R Fazal, S Boeynaems, A Swijsen, M De Decker… - The EMBO …, 2021 - embopress.org
TDP‐43 is the major component of pathological inclusions in most ALS patients and in up to
50% of patients with frontotemporal dementia (FTD). Heterozygous missense mutations in …

Molecular Dissection of TDP-43 as a Leading Cause of ALS/FTLD

Y Tamaki, M Urushitani - International journal of molecular sciences, 2022 - mdpi.com
TAR DNA binding protein 43 (TDP-43) is a DNA/RNA binding protein involved in pivotal
cellular functions, especially in RNA metabolism. Hyperphosphorylated and ubiquitinated …

Molecular mechanisms underlying TDP-43 pathology in cellular and animal models of ALS and FTLD

A Wood, Y Gurfinkel, N Polain, W Lamont… - International journal of …, 2021 - mdpi.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are
neurodegenerative disorders that exist on a disease spectrum due to pathological, clinical …

TDP-43 dysregulation and neuromuscular junction disruption in amyotrophic lateral sclerosis

S Lépine, MJ Castellanos-Montiel… - Translational …, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) is a disease characterized by upper and lower motor
neuron (MN) loss with a signature feature of cytoplasmic aggregates containing TDP-43 …

BDNF-dependent modulation of axonal transport is selectively impaired in ALS

AP Tosolini, JN Sleigh, S Surana, ER Rhymes… - Acta Neuropathologica …, 2022 - Springer
Axonal transport ensures long-range delivery of essential cargoes between proximal and
distal compartments, and is needed for neuronal development, function, and survival …