Associated Papers
TDP-43 proteinopathies and neurodegeneration: insights from Caenorhabditis elegans models.
Pir GJ et al.
The Febs Journal, 2026
TDP-43 loss induces cryptic polyadenylation in ALS/FTD.
Bryce-Smith S et al.
Nature Neuroscience, 2025
Myopathic aggregation-prone variants in the TDP-43 prion-like domain: genetics paving the way.
Ervilha Pereira P et al.
Brain : a Journal of Neurology, 2025
Exploring Protein Misfolding in Amyotrophic Lateral Sclerosis: Structural and Functional Insights.
Ivantsik O et al.
Biomedicines, 2025
Molecular Mechanisms of Protein Aggregation in ALS-FTD: Focus on TDP-43 and Cellular Protective Responses.
Verde EM et al.
Cells, 2025
Impact of APOE and MAPT genetic profile on the cognitive functions among Amyotrophic Lateral Sclerosis Tunisian patients.
Sghaier I et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2025
Comprehensive mapping of mutations in TDP-43 and α-Synuclein that affect stability and binding.
Alamri SH et al.
Journal of Biomolecular Structure & Dynamics, 2025
First insights into genotype and phenotype of familial amyotrophic lateral sclerosis in Egypt: early onset and high consanguinity.
Hamdi N et al.
Frontiers of Medicine, 2024
Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.
Feng M et al.
Nature Communications, 2024
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Zibold J et al.
Brain : a Journal of Neurology, 2024
Slow disease progression and characteristic TDP-43 inclusions in a patient with familial amyotrophic lateral sclerosis carrying a TARDBP G357S variant.
Sainouchi M et al.
Neuropathology and Applied Neurobiology, 2024
TDP-43 loss induces extensive cryptic polyadenylation in ALS/FTD.
Bryce-Smith S et al.
Biorxiv : the Preprint Server for Biology, 2024
TDP-43 as a therapeutic target in neurodegenerative diseases: Focusing on motor neuron disease and frontotemporal dementia.
Babazadeh A et al.
Ageing Research Reviews, 2023
Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review.
Lombardi M et al.
Genes, 2023
TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP.
Arseni D et al.
Nature, 2023
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.
Lattante S et al.
European Journal of Neurology, 2023
Integrated Omic Analysis Delineates Pathways Modulating Toxic TDP-43 Protein Aggregates in Amyotrophic Lateral Sclerosis.
Rajaratnam S et al.
Cells, 2023
Potential roles of the endoplasmic reticulum stress pathway in amyotrophic lateral sclerosis.
Jeon YM et al.
Frontiers in Aging Neuroscience, 2023
Codon-optimized TDP-43 mediates neurodegeneration in a Drosophila model of ALS/FTLD.
Yusuff T et al.
Frontiers in Genetics, 2023
Generation of a C. elegans tdp-1 null allele and humanized TARDBP containing human disease-variants.
Lins J et al.
Micropublication Biology, 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
Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis.
Kacem I et al.
Neurobiology of Aging, 2022
Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity.
Kacem I et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022
Proteostasis impairment and ALS.
Lambert-Smith IA et al.
Progress in Biophysics and Molecular Biology, 2022
Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China.
Xu F et al.
Bmc Medical Genomics, 2022
TAR DNA-binding protein 43 oligomers in physiology and pathology.
Lye YS et al.
Iubmb Life, 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
Altered TDP-43 Structure and Function: Key Insights into Aberrant RNA, Mitochondrial, and Cellular and Systemic Metabolism in Amyotrophic Lateral Sclerosis.
Jiang L et al.
Metabolites, 2022
Identifying amyloid-related diseases by mapping mutations in low-complexity protein domains to pathologies.
Murray KA et al.
Nature Structural & Molecular Biology, 2022
Structure of pathological TDP-43 filaments from ALS with FTLD.
Arseni D et al.
Nature, 2022
Sequence Determinants of TDP-43 Ribonucleoprotein Condensate Formation and Axonal Transport in Neurons.
Vishal SS et al.
Frontiers in Cell and Developmental Biology, 2022
TARDBP mutations in a cohort of Italian patients with Parkinson's disease and atypical parkinsonisms.
Tiloca C et al.
Frontiers in Aging Neuroscience, 2022
Nearly 30 Years of Animal Models to Study Amyotrophic Lateral Sclerosis: A Historical Overview and Future Perspectives.
Bonifacino T et al.
International Journal of Molecular Sciences, 2021
TDP-43 condensation properties specify its RNA-binding and regulatory repertoire.
Hallegger M et al.
Cell, 2021
The Different Faces of the TDP-43 Low-Complexity Domain: The Formation of Liquid Droplets and Amyloid Fibrils.
Chien HM et al.
International Journal of Molecular Sciences, 2021
Molecular Mechanisms Underlying TDP-43 Pathology in Cellular and Animal Models of ALS and FTLD.
Wood A et al.
International Journal of Molecular Sciences, 2021
Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregation.
Tziortzouda P et al.
Nature Reviews. Neuroscience, 2021
TDP-43 proteinopathy alters the ribosome association of multiple mRNAs including the glypican Dally-like protein (Dlp)/GPC6.
Lehmkuhl EM et al.
Acta Neuropathologica Communications, 2021
Cryo-EM structure of amyloid fibrils formed by the entire low complexity domain of TDP-43.
Li Q et al.
Nature Communications, 2021
Amyotrophic Lateral Sclerosis Genes in Drosophila melanogaster.
Layalle S et al.
International Journal of Molecular Sciences, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
The Role of Mitochondrial Dysfunction and ER Stress in TDP-43 and C9ORF72 ALS.
Dafinca R et al.
Frontiers in Cellular Neuroscience, 2021
TDP-43 and ER Stress in Neurodegeneration: Friends or Foes?
de Mena L et al.
Frontiers in Molecular Neuroscience, 2021
Cytoplasmic localization of amyotrophic lateral sclerosis-related TDP-43 proteins modulates stress granule formation.
Besnard-Guérin C
The European Journal of Neuroscience, 2020
The role of TDP-43 propagation in neurodegenerative diseases: integrating insights from clinical and experimental studies.
Jo M et al.
Experimental & Molecular Medicine, 2020
CRISPR/Cas9-Mediated Gene Correction to Understand ALS.
Yun Y et al.
International Journal of Molecular Sciences, 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