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 …

Amyloid oligomers: A joint experimental/computational perspective on Alzheimer's disease, Parkinson's disease, type II diabetes, and amyotrophic lateral sclerosis

PH Nguyen, A Ramamoorthy, BR Sahoo… - Chemical …, 2021 - ACS Publications
Protein misfolding and aggregation is observed in many amyloidogenic diseases affecting
either the central nervous system or a variety of peripheral tissues. Structural and dynamic …

[PDF][PDF] TDP-43 triggers mitochondrial DNA release via mPTP to activate cGAS/STING in ALS

CH Yu, S Davidson, CR Harapas, JB Hilton… - Cell, 2020 - cell.com
Cytoplasmic accumulation of TDP-43 is a disease hallmark for many cases of amyotrophic
lateral sclerosis (ALS), associated with a neuroinflammatory cytokine profile related to …

Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report

PT Nelson, DW Dickson, JQ Trojanowski, CR Jack… - Brain, 2019 - academic.oup.com
We describe a recently recognized disease entity, limbic-predominant age-related TDP-43
encephalopathy (LATE). LATE neuropathological change (LATE-NC) is defined by a …

The role of TDP-43 mislocalization in amyotrophic lateral sclerosis

TR Suk, MWC Rousseaux - Molecular neurodegeneration, 2020 - Springer
Since its discovery as a primary component in cytoplasmic aggregates in post-mortem tissue
of patients with Amyotrophic Lateral Sclerosis (ALS), TAR DNA Binding Protein 43 kDa (TDP …

[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 …

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 …

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

Z Melamed, J López-Erauskin, MW Baughn… - Nature …, 2019 - nature.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with
loss of nuclear transactive response DNA-binding protein 43 (TDP-43). Here we identify that …

It's not just a phase: function and characteristics of RNA-binding proteins in phase separation

HJ Wiedner, J Giudice - Nature structural & molecular biology, 2021 - nature.com
Biomolecular condensates that form via phase separation are increasingly regarded as
coordinators of cellular reactions that regulate a wide variety of biological phenomena …

Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent

K Fujimori, M Ishikawa, A Otomo, N Atsuta… - Nature medicine, 2018 - nature.com
Amyotrophic lateral sclerosis (ALS) is a heterogeneous motor neuron disease for which no
effective treatment is available, despite decades of research into SOD1-mutant familial ALS …