Associated Papers
TDP-43 proteinopathies and neurodegeneration: insights from Caenorhabditis elegans models.
Pir GJ et al.
The Febs Journal, 2026
G-Quadruplexes Abet Neuronal Burnout in ALS and FTD.
Herbert A
Antioxidants (basel, Switzerland), 2025
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Cogan G et al.
Brain : a Journal of Neurology, 2025
TRAF6 regulates ubiquitination-independent TDP-43 condensation and related neurodegeneration.
Guo S et al.
Molecular Psychiatry, 2025
Cryptic Splicing of GAP43 mRNA is a Novel Hallmark of TDP-43-Associated ALS and AD.
Yang M et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
TDP-43 mutants with different aggregation properties exhibit distinct toxicity, axonal transport, and secretion for disease progression in a mouse ALS/FTLD model.
Mori H et al.
Neurobiology of Disease, 2025
TARDBP variants in Taiwanese ALS patients: Genetic spectrum, clinical features, and founder effects.
Jih KY et al.
Journal of the Neurological Sciences, 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
Molecular Mechanisms of Protein Aggregation in ALS-FTD: Focus on TDP-43 and Cellular Protective Responses.
Verde EM et al.
Cells, 2025
Semantic behavioral variant frontotemporal dementia and semantic dementia associated with TARDBP mutations.
Piga G et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Pathogenic TDP-43 in amyotrophic lateral sclerosis.
Chong ZZ et al.
Drug Discovery Today, 2025
Amyotrophic lateral sclerosis caused by TARDBP mutations: from genetics to TDP-43 proteinopathy.
Balendra R et al.
The Lancet. Neurology, 2025
ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.
Meng Y et al.
European Journal of Neurology, 2025
TDP-43 seeding activity in the olfactory mucosa of patients with amyotrophic lateral sclerosis.
Vizziello M et al.
Molecular Neurodegeneration, 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
Clinical characteristics of semantic variant of primary progressive aphasia with TDP-43- and tau-related gene variants.
Ma Y et al.
Journal of Alzheimer's Disease : Jad, 2025
Modulation of Mitochondria-Endoplasmic Reticulum Contacts (MERCs) by Small Molecules as a New Strategy for Restoring Lipid Metabolism in an Amyotrophic Lateral Sclerosis Model.
Etxebeste-Mitxeltorena M et al.
Journal of Medicinal Chemistry, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Proteome Aggregation in Cells Derived from Amyotrophic Lateral Sclerosis Patients for Personalized Drug Evaluation.
Pérez de la Lastra Aranda C et al.
Acs Chemical Neuroscience, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.
Libonati L et al.
Journal of Neurology, 2024
Cognitive and Behavioral Features of Patients With Amyotrophic Lateral Sclerosis Who Are Carriers of the TARDBP Pathogenic Variant.
Moglia C et al.
Neurology, 2024
Disease survival and progression in TARDBP ALS patients from Sardinia, Italy.
Borghero G et al.
Journal of Neurology, 2024
Establishment of a novel amyotrophic lateral sclerosis patient (TARDBP N345K/+)-derived brain microvascular endothelial cell model reveals defective Wnt/β-catenin signaling: investigating diffusion barrier dysfunction and immune cell interaction.
Matsuo K et al.
Frontiers in Cell and Developmental Biology, 2024
Structural Integrity of Nucleolin Is Required to Suppress TDP-43-Mediated Cytotoxicity in Yeast and Human Cell Models.
Peggion C et al.
International Journal of Molecular Sciences, 2023
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
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 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
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
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 factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.
Su WM et al.
Bmc Medicine, 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
Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions.
Versluys L et al.
Frontiers in Neuroscience, 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
TDP-43 Pathology in Alzheimer's Disease.
Meneses A et al.
Molecular Neurodegeneration, 2021
Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.
Bartoletti-Stella A et al.
Journal of Neurology, 2021
Genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis patients with TARDBP mutations.
Feng F et al.
Brain and Behavior, 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