Associated Papers
Sex-Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?
Grassano M et al.
Annals of Neurology, 2026
TARDBP (TDP-43) Knock-in Zebrafish Display a Late-Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons.
Harji ZA et al.
Annals of Neurology, 2026
DNA damage response defects induced by the formation of TDP-43 and mutant FUS cytoplasmic inclusions and their pharmacological rescue.
Modafferi S et al.
Cell Death and Differentiation, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
On the potential roles of TDP-43 in the formation of membraneless organelles and their transformation into toxic aggregates.
Sergeeva OS et al.
Biochemical and Biophysical Research Communications, 2025
TRAF6 regulates ubiquitination-independent TDP-43 condensation and related neurodegeneration.
Guo S et al.
Molecular Psychiatry, 2025
Isoginkgetin antagonizes ALS pathologies in its animal and patient iPSC models via PINK1-Parkin-dependent mitophagy.
Li A et al.
Embo Molecular Medicine, 2025
Tracing neuropathological signatures: TARDBP and C9orf72 double mutations in a Sicilian family.
Masrori P et al.
Human Molecular Genetics, 2025
Integrated profiling of iPSC-derived motor neurons carrying C9orf72, FUS, TARDBP, or SOD1 mutations.
Ma GM et al.
Stem Cell Reports, 2025
Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.
de Rojas I et al.
Alzheimer's Research & Therapy, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Loss of Nuclear TDP-43 Impairs Lipid Metabolism in Microglia-Like Cells.
Kabra K et al.
Biorxiv : the Preprint Server for Biology, 2025
The aging factor EPS8 induces disease-related protein aggregation through RAC signaling hyperactivation.
Koyuncu S et al.
Nature Aging, 2025
Transcriptome-based screening in TARDBP/TDP-43 knock-in motor neurons identifies the NEDD8-activating enzyme inhibitor MLN4924.
Lépine S et al.
Scientific Reports, 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
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
TARDBP variants in Taiwanese ALS patients: Genetic spectrum, clinical features, and founder effects.
Jih KY et al.
Journal of the Neurological Sciences, 2025
Fructose-2,6-bisphosphate restores TDP-43 pathology-driven genome repair deficiency in motor neuron diseases.
Chakraborty A et al.
Biorxiv : the Preprint Server for Biology, 2025
Identification of Transcriptomic Differences in Induced Pluripotent Stem Cells and Neural Progenitors from Amyotrophic Lateral Sclerosis Patients Carrying Different Mutations: A Pilot Study.
Sgromo C et al.
Cells, 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
Scouring the human Hsp70 network uncovers diverse chaperone safeguards buffering TDP-43 toxicity.
Barbieri EM et al.
Biorxiv : the Preprint Server for Biology, 2025
Exploring Protein Misfolding in Amyotrophic Lateral Sclerosis: Structural and Functional Insights.
Ivantsik O et al.
Biomedicines, 2025
Semantic behavioral variant frontotemporal dementia and semantic dementia associated with TARDBP mutations.
Piga G et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Structural insights and milestones in TDP-43 research: A comprehensive review of its pathological and therapeutic advances.
Dang M et al.
International Journal of Biological Macromolecules, 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
Mitochondrial and energy metabolism dysfunctions are hallmarks of TDP-43G376D fibroblasts from members of an Amyotrophic Lateral Sclerosis family.
Perciballi E et al.
Cell Death & Disease, 2025
A population based study to analyse amyotrophic lateral sclerosis as a multi-step process.
D'Amico A et al.
Scientific Reports, 2025
The Regulation of TDP-43 Structure and Phase Transitions: A Review.
Liu Y et al.
The Protein Journal, 2025
Dysfunctional Mitochondria Characterize Amyotrophic Lateral Sclerosis Patients' Cells Carrying the p.G376D TARDBP Pathogenetic Substitution.
Petito G et al.
Antioxidants (basel, Switzerland), 2025
Edaravone mitigates TDP-43 mislocalization in human amyotrophic lateral sclerosis neurons with potential implication of the SIRT1-XBP1 pathway.
Mikuriya S et al.
Free Radical Biology & Medicine, 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
Opposing roles of p38α-mediated phosphorylation and PRMT1-mediated arginine methylation in driving TDP-43 proteinopathy.
Aikio M et al.
Cell Reports, 2025
Therapeutic targeting of the oxidative stress generated by pathological molecular pathways in the neurodegenerative diseases, ALS and Huntington's.
Bajpai A et al.
European Journal of Pharmacology, 2025
Clinical trajectories of genetic variants in ALS: a European observational study within PRECISION-ALS.
McFarlane R et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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
Proteomic Identification of ALDOA as a Pathogenic TDP-43 Interaction Partner in ALS.
Yan K et al.
Degenerative Neurological and Neuromuscular Disease, 2025