Associated Papers
Amyotrophic Lateral Sclerosis (ALS) Genetics and Microbiota: A Comprehensive Review.
Kurdi MA et al.
International Journal of Molecular Sciences, 2026
Antisense Dipeptide Repeat Proteins Drive Widescale Purine Metabolism Aberration in C9orf72 Amyotrophic Lateral Sclerosis via ADA.
Hall B et al.
International Journal of Molecular Sciences, 2026
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Amyotrophic lateral sclerosis caused by TARDBP mutations: from genetics to TDP-43 proteinopathy.
Balendra R et al.
The Lancet. Neurology, 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 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
N-Terminal Fragments of TDP-43-In Vitro Analysis and Implication in the Pathophysiology of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration.
Chami AA et al.
Genes, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Stress-induced TDP-43 nuclear condensation causes splicing loss of function and STMN2 depletion.
Huang WP et al.
Cell Reports, 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
Loss of TDP-43 function underlies hippocampal and cortical synaptic deficits in TDP-43 proteinopathies.
Ni J et al.
Molecular Psychiatry, 2023
Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.
Cooper-Knock J et al.
Brain Pathology (zurich, Switzerland), 2023
A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations.
Allen SP et al.
Frontiers in Aging Neuroscience, 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
Importance of the Q/N-rich segment for protein stability of endogenous mouse TDP-43.
Sato T et al.
Scientific Reports, 2022
Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China.
Xu F et al.
Bmc Medical Genomics, 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
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
Quantitative patterns of motor cortex proteinopathy across ALS genotypes.
Nolan M et al.
Acta Neuropathologica Communications, 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
Structural Transition, Function and Dysfunction of TDP-43 in Neurodegenerative Diseases.
Afroz T et al.
Chimia, 2019
The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?
Hergesheimer RC et al.
Brain : a Journal of Neurology, 2019
Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant.
Newell K et al.
Brain Pathology (zurich, Switzerland), 2019
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
Mehta PR et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis.
Prasad A et al.
Frontiers in Molecular Neuroscience, 2019
ALS Genes in the Genomic Era and their Implications for FTD.
Nguyen HP et al.
Trends in Genetics : Tig, 2018
TDP-43 post-translational modifications in health and disease.
Buratti E
Expert Opinion on Therapeutic Targets, 2018
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Morgan S et al.
Brain : a Journal of Neurology, 2017
Mutant TDP-43 within motor neurons drives disease onset but not progression in amyotrophic lateral sclerosis.
Ditsworth D et al.
Acta Neuropathologica, 2017
The chaperone HSPB8 reduces the accumulation of truncated TDP-43 species in cells and protects against TDP-43-mediated toxicity.
Crippa V et al.
Human Molecular Genetics, 2016
ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation.
King A et al.
Acta Neuropathologica Communications, 2015
Review: Prion-like mechanisms of transactive response DNA binding protein of 43 kDa (TDP-43) in amyotrophic lateral sclerosis (ALS).
Smethurst P et al.
Neuropathology and Applied Neurobiology, 2015
Emerging mechanisms of molecular pathology in ALS.
Peters OM et al.
The Journal of Clinical Investigation, 2015
Peptidylprolyl isomerase A governs TARDBP function and assembly in heterogeneous nuclear ribonucleoprotein complexes.
Lauranzano E et al.
Brain : a Journal of Neurology, 2015
Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not.
Hardy J et al.
Experimental Neurology, 2014
Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders.
Janssens J et al.
Human Molecular Genetics, 2013
Stress granules in neurodegeneration--lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma.
Bentmann E et al.
The Febs Journal, 2013
Reducing TDP-43 aggregation does not prevent its cytotoxicity.
Liu R et al.
Acta Neuropathologica Communications, 2013
TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.
Lattante S et al.
Human Mutation, 2013
Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins.
Watanabe S et al.
The Journal of Biological Chemistry, 2013
Absence of mutations in exon 6 of the TARDBP gene in 207 Chinese patients with sporadic amyotrohic lateral sclerosis.
Ye CH et al.
Plos One, 2013
Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis.
Belzil VV et al.
Neurobiology of Aging, 2012