Associated Papers
TDP-43 proteinopathies and neurodegeneration: insights from Caenorhabditis elegans models.
Pir GJ et al.
The Febs Journal, 2026
Dual-targeting snRNA gene therapy rescues STMN2 and UNC13A splicing in TDP-43 proteinopathies.
Gomberg TA et al.
Biorxiv : the Preprint Server for Biology, 2025
Investigation of mitochondrial phenotypes in motor neurons derived by direct conversion of fibroblasts from familial ALS subjects.
Woo E et al.
Cell Death & Disease, 2025
The CCL2-CCR2 axis drives neuromuscular denervation in amyotrophic lateral sclerosis.
Nógrádi B et al.
Nature Communications, 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
Exploring the phenotypic fingerprints of ANXA11 variants in ALS: a population-based study in an European cohort.
Palumbo F et al.
Journal of Neurology, 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
TDP-43 dysregulation of polyadenylation site selection is a defining feature of RNA misprocessing in amyotrophic lateral sclerosis and frontotemporal dementia.
Arnold FJ et al.
The Journal of Clinical Investigation, 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
Exploring Protein Misfolding in Amyotrophic Lateral Sclerosis: Structural and Functional Insights.
Ivantsik O et al.
Biomedicines, 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
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
Investigation of mitochondrial phenotypes in motor neurons derived by direct conversion of fibroblasts from familial ALS subjects.
Woo E et al.
Biorxiv : the Preprint Server for Biology, 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
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Neural stem cell homeostasis is affected in cortical organoids carrying a mutation in Angiogenin.
Ferguson R et al.
The Journal of Pathology, 2024
A mutation in the low-complexity domain of splicing factor hnRNPA1 linked to amyotrophic lateral sclerosis disrupts distinct neuronal RNA splicing networks.
Lee YJ et al.
Genes & Development, 2024
Drug Screening and Validation Targeting TDP-43 Proteinopathy for Amyotrophic Lateral Sclerosis.
Xin J et al.
Aging and Disease, 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
DNA methylome, R-loop and clinical exome profiling of patients with sporadic amyotrophic lateral sclerosis.
Feró O et al.
Scientific Data, 2024
TDP-43 dysregulation of polyadenylation site selection is a defining feature of RNA misprocessing in ALS/FTD and related disorders.
Arnold FJ et al.
Biorxiv : the Preprint Server for Biology, 2024
Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease.
Agra Almeida Quadros AR et al.
Acta Neuropathologica, 2024
Upregulated miR-10b-5p as a potential miRNA signature in amyotrophic lateral sclerosis patients.
Dash BP et al.
Frontiers in Cellular Neuroscience, 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
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
Specific vulnerability of iPSC-derived motor neurons with TDP-43 gene mutation to oxidative stress.
Onda-Ohto A et al.
Molecular Brain, 2023
Restoring expression of Stathmin-2: a novel strategy to treat TDP-43 proteinopathies.
Menge S et al.
Signal Transduction and Targeted Therapy, 2023
Integrated transcriptome landscape of ALS identifies genome instability linked to TDP-43 pathology.
Ziff OJ et al.
Nature Communications, 2023
Mechanism of STMN2 cryptic splice-polyadenylation and its correction for TDP-43 proteinopathies.
Baughn MW et al.
Science (new York, N.y.), 2023
Proteostasis and Ribostasis Impairment as Common Cell Death Mechanisms in Neurodegenerative Diseases.
Lim SM et al.
Journal of Clinical Neurology (seoul, Korea), 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
Molecular Dissection of TDP-43 as a Leading Cause of ALS/FTLD.
Tamaki Y et al.
International Journal of Molecular Sciences, 2022
Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China.
Xu F et al.
Bmc Medical Genomics, 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
Decreased plasma ghrelin in male ALS patients is associated with poor prognosis.
Nagaoka U et al.
Neuroscience Research, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational 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
Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.
Mesaros M et al.
Genes, 2021
TDP-43 stabilizes G3BP1 mRNA: relevance to amyotrophic lateral sclerosis/frontotemporal dementia.
Sidibé H et al.
Brain : a Journal of Neurology, 2021