Associated Papers
TDP-43 proteinopathies and neurodegeneration: insights from Caenorhabditis elegans models.
Pir GJ et al.
The Febs Journal, 2026
A Comprehensive Overview of Neurophysiological Correlates of Cognitive Impairment in Amyotrophic Lateral Sclerosis.
Borgheai SB et al.
Cells, 2025
TRAF6 regulates ubiquitination-independent TDP-43 condensation and related neurodegeneration.
Guo S et al.
Molecular Psychiatry, 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
Amyotrophic lateral sclerosis caused by TARDBP mutations: from genetics to TDP-43 proteinopathy.
Balendra R et al.
The Lancet. Neurology, 2025
Targets and Gene Therapy of ALS (Part 1).
Shiryaeva O et al.
International Journal of Molecular Sciences, 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
Exploring epigenetic modifications as potential biomarkers and therapeutic targets in amyotrophic lateral sclerosis.
Hou X et al.
Journal of Neurology, 2025
Dysfunctional Mitochondria Characterize Amyotrophic Lateral Sclerosis Patients' Cells Carrying the p.G376D TARDBP Pathogenetic Substitution.
Petito G et al.
Antioxidants (basel, Switzerland), 2025
Lysosomal Dysfunction in Amyotrophic Lateral Sclerosis: A Familial Case Linked to the p.G376D TARDBP Mutation.
Romano R et al.
International Journal of Molecular Sciences, 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
Elevated nuclear TDP-43 induces constitutive exon skipping.
Carmen-Orozco RP et al.
Molecular Neurodegeneration, 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
Understanding age-related pathologic changes in TDP-43 functions and the consequence on RNA splicing and signalling in health and disease.
Cheng F et al.
Ageing Research Reviews, 2024
Sporadic Amyotrophic Lateral Sclerosis Skeletal Muscle Transcriptome Analysis: A Comprehensive Examination of Differentially Expressed Genes.
Gascón E et al.
Biomolecules, 2024
Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review.
Lombardi M et al.
Genes, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.
Lattante S et al.
European Journal of Neurology, 2023
Deregulation of Plasma microRNA Expression in a TARDBP-ALS Family.
Ruffo P et al.
Biomolecules, 2023
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.
Suzuki N et al.
Journal of Human Genetics, 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
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 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
Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein.
D'Anzi A et al.
Stem Cell Research, 2022
Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions.
Versluys L et al.
Frontiers in Neuroscience, 2022
Functional implication of ubiquitinating and deubiquitinating mechanisms in TDP-43 proteinopathies.
Tran NN et al.
Frontiers in Cell and Developmental Biology, 2022
Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D TARDBP mutation.
Romano R et al.
Brain Communications, 2022
Reduced PHOX2B stability causes axonal growth impairment in motor neurons with TARDBP mutations.
Mitsuzawa S et al.
Stem Cell Reports, 2021
Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein.
D'Anzi A et al.
Stem Cell Research, 2021
Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregation.
Tziortzouda P et al.
Nature Reviews. Neuroscience, 2021
Cryo-EM structure of amyloid fibrils formed by the entire low complexity domain of TDP-43.
Li Q et al.
Nature Communications, 2021
Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis.
Ungaro C et al.
Neurobiology of Aging, 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
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
The NGS technology for the identification of genes associated with the ALS. A systematic review.
Pecoraro V et al.
European Journal of Clinical Investigation, 2020
RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy.
Chen HJ et al.
Brain : a Journal of Neurology, 2019
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
Structural Transition, Function and Dysfunction of TDP-43 in Neurodegenerative Diseases.
Afroz T et al.
Chimia, 2019