Structural insights into TDP-43 and effects of post-translational modifications

L François-Moutal, S Perez-Miller, DD Scott… - Frontiers in molecular …, 2019 - frontiersin.org
Transactive response DNA binding protein (TDP-43) is a key player in neurodegenerative
diseases. In this review, we have gathered and presented structural information on the …

Variability in clinical phenotype in TARDBP mutations: amyotrophic lateral sclerosis case description and literature review

M Lombardi, L Corrado, B Piola, C Comi, R Cantello… - Genes, 2023 - mdpi.com
Mutations in the 43 kDa transactive-response (TAR)-DNA-binding protein (TARDBP) are
associated with 2–5% of familial Amyotrophic Lateral Sclerosis (ALS) cases. TAR DNA …

Regulation of TDP-43 phosphorylation in aging and disease

RJ Eck, BC Kraemer, NF Liachko - Geroscience, 2021 - Springer
Insoluble inclusions of phosphorylated TDP-43 occur in disease-affected neurons of most
patients with amyotrophic lateral sclerosis (ALS) and about half of patients with …

Cross-seeding by prion protein inactivates TDP-43

SA Polido, C Stuani, A Voigt, P Banik, J Kamps… - Brain, 2024 - academic.oup.com
A common pathological denominator of various neurodegenerative diseases is the
accumulation of protein aggregates. Neurotoxic effects are caused by a loss of the …

Location and function of TDP-43 in platelets, alterations in neurodegenerative diseases and arising considerations for current plasma biobank protocols

R Luthi-Carter, S Cappelli, M Le Roux-Bourdieu… - Scientific Reports, 2024 - nature.com
Abstract The TAR DNA Binding Protein 43 (TDP-43) has been implicated in the
pathogenesis of human neurodegenerative diseases and exhibits hallmark neuropathology …

Dissecting how ALS-associated D290V mutation enhances pathogenic aggregation of hnRNPA2286–291 peptides: Dynamics and conformational ensembles

Y Tan, Y Chen, X Liu, Y Tang, Z Lao, G Wei - International Journal of …, 2023 - Elsevier
The aggregation of RNA binding proteins, including hnRNPA1/2, TDP-43 and FUS, is
heavily implicated in causing or increasing disease risk for a series of neurodegenerative …

Antibody against TDP-43 phosphorylated at serine 375 suggests conformational differences of TDP-43 aggregates among FTLD–TDP subtypes

M Neumann, P Frick, F Paron, J Kosten, E Buratti… - Acta …, 2020 - Springer
Aggregation of hyperphosphorylated TDP-43 is the hallmark pathological feature of the most
common molecular form of frontotemporal lobar degeneration (FTLD–TDP) and in the vast …

Atomistic insights into A315E mutation-enhanced pathogenicity of TDP-43 core fibrils

F Li, Y Chen, X Liu, Y Tang, X Dong… - ACS Chemical …, 2022 - ACS Publications
The aggregation of TAR DNA-binding protein of 43 kDa (TDP-43) into fibrillary deposits is
implicated in amyotrophic lateral sclerosis (ALS), and some hereditary mutations localized in …

ALS-Linked A315T and A315E Mutations Enhance β-Barrel Formation of the TDP-43307–319 Hexamer: A REST2 Simulation Study

X Liu, X Li, Q Qiao, F Li, G Wei - ACS Chemical Neuroscience, 2023 - ACS Publications
Pathogenic mutations of transactivation response element DNA-binding protein 43 (TDP-43)
are closely linked with amyotrophic lateral sclerosis (ALS). It was recently reported that two …

Unraveling the toxic effects mediated by the neurodegenerative disease–associated S375G mutation of TDP-43 and its S375E phosphomimetic variant

F Paron, S Barattucci, S Cappelli, M Romano… - Journal of Biological …, 2022 - ASBMB
TAR DNA-binding protein 43 (TDP-43) is a nucleic acid–binding protein found in the
nucleus that accumulates in the cytoplasm under pathological conditions, leading to …