Associated Papers
TDP-43 proteinopathies and neurodegeneration: insights from Caenorhabditis elegans models.
Pir GJ et al.
The Febs Journal, 2026
Two Families With Amyotrophic Lateral Sclerosis Founder Mutation TARDBP p.G298S in Hong Kong.
Yip MK et al.
Cureus, 2025
TARDBP variants in Taiwanese ALS patients: Genetic spectrum, clinical features, and founder effects.
Jih KY et al.
Journal of the Neurological Sciences, 2025
Deciphering the Inhibitory Mechanism of ALS-Associated N352S and S352p Variants against TDP-43 Aggregation and Its Destabilization Effect on TDP-43 Protofibrils.
Xu Z et al.
Acs Chemical Neuroscience, 2025
Pathogenic TDP-43 in amyotrophic lateral sclerosis.
Chong ZZ et al.
Drug Discovery Today, 2025
The Regulation of TDP-43 Structure and Phase Transitions: A Review.
Liu Y et al.
The Protein Journal, 2025
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Dissecting the effect of ALS mutation S375G on the conformational properties and aggregation dynamics of TDP-43370-375 fragment.
Xu Z et al.
Biophysical Chemistry, 2024
Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review.
Lombardi M et al.
Genes, 2023
Dissecting the Effect of ALS Mutation G335D on the Early Aggregation of the TDP-43 Amyloidogenic Core Peptide: Helix-to-β-Sheet Transition and Conformational Shift.
Li F et al.
Journal of Chemical Information and Modeling, 2023
ALS-Linked A315T and A315E Mutations Enhance β-Barrel Formation of the TDP-43307-319 Hexamer: A REST2 Simulation Study.
Liu X et al.
Acs Chemical Neuroscience, 2023
Role of Triggers on the Structural and Functional Facets of TAR DNA-binding Protein 43.
Camilus N et al.
Neuroscience, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature.
Sánchez-Tejerina D et al.
Genes, 2022
Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China.
Xu F et al.
Bmc Medical Genomics, 2022
Genotype-phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature.
Li J et al.
Journal of Neurology, 2022
Unraveling the toxic effects mediated by the neurodegenerative disease-associated S375G mutation of TDP-43 and its S375E phosphomimetic variant.
Paron F et al.
The Journal of Biological Chemistry, 2022
Genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis patients with TARDBP mutations.
Feng F et al.
Brain and Behavior, 2021
Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregation.
Tziortzouda P et al.
Nature Reviews. Neuroscience, 2021
Antibody against TDP-43 phosphorylated at serine 375 suggests conformational differences of TDP-43 aggregates among FTLD-TDP subtypes.
Neumann M et al.
Acta Neuropathologica, 2020
A novel S379A TARDBP mutation associated to late-onset sporadic ALS.
Sprovieri T et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019
Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant.
Newell K et al.
Brain Pathology (zurich, Switzerland), 2019
Structural Insights Into TDP-43 and Effects of Post-translational Modifications.
François-Moutal L et al.
Frontiers in Molecular Neuroscience, 2019
TDP-43 post-translational modifications in health and disease.
Buratti E
Expert Opinion on Therapeutic Targets, 2018
Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.
Pang SY et al.
Neurobiology of Aging, 2017
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.
Cady J et al.
Annals of Neurology, 2015