Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.G298S
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TARDBP

NM_007375.4:p.G298S

Associated Papers

From Dish to Trial: Building Translational Models of ALS.

Salamotas I et al.

Cells, 2026

From Evasion to Collapse: The Kinetic Cascade of TDP-43 and the Failure of Proteostasis.

Jamerlan A et al.

International Journal of Molecular Sciences, 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

TDP-43 proteinopathies and neurodegeneration: insights from Caenorhabditis elegans models.

Pir GJ et al.

The Febs Journal, 2026

Neurodegenerative disease and autophagy in iPSC-based models.

Odonchimed S et al.

Neuroscience Research, 2026

Novel and rare variants in amyotrophic lateral sclerosis genes identified in Malaysian patients.

Zulhairy-Liong NA et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025

41359433 (PubMed )
Supplement: supplement_1.docx

Revisiting oligodendrocytes in amyotrophic lateral sclerosis using human multicellular stem cell models.

Mouhi S et al.

Trends in Cell Biology, 2025

Does Amyotrophic Lateral Sclerosis (ALS) Have Metabolic Causes from Human Evolution?

Spedding M

Cells, 2025

TRAF6 regulates ubiquitination-independent TDP-43 condensation and related neurodegeneration.

Guo S et al.

Molecular Psychiatry, 2025

Schwann cells as a therapeutic target for amyotrophic lateral sclerosis: A TDP-43 focussed review.

Lewis KN et al.

Neurochemistry International, 2025

Integrated profiling of iPSC-derived motor neurons carrying C9orf72, FUS, TARDBP, or SOD1 mutations.

Ma GM et al.

Stem Cell Reports, 2025

41043426 (PubMed )
Supplement: mmc1.pdf

A next-generation HDAC6 inhibitor for amyotrophic lateral sclerosis and frontotemporal dementia.

James RE et al.

Brain : a Journal of Neurology, 2025

Two Families With Amyotrophic Lateral Sclerosis Founder Mutation TARDBP p.G298S in Hong Kong.

Yip MK et al.

Cureus, 2025

Activation of polo-like kinase 1 correlates with selective motor neuron vulnerability in familial ALS.

Szewczyk B et al.

Cell 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

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

RNA-binding proteins in ALS and FTD: from pathogenic mechanisms to therapeutic insights.

Rummens J et al.

Molecular Neurodegeneration, 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

Stress exposure affects amyotrophic lateral sclerosis pathogenesis via PI3K/Akt and focal adhesion pathways: evidence from three experimental models.

Rasà DM et al.

Scientific Reports, 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

Molecular mechanisms and consequences of TDP-43 phosphorylation in neurodegeneration.

Kellett EA et al.

Molecular Neurodegeneration, 2025

Amyotrophic lateral sclerosis caused by TARDBP mutations: from genetics to TDP-43 proteinopathy.

Balendra R et al.

The Lancet. Neurology, 2025

40252666 (PubMed )
Supplement: EMS205435-supplement-Supplementary_table_1.pdf

Dysfunctional Mitochondria Characterize Amyotrophic Lateral Sclerosis Patients' Cells Carrying the p.G376D TARDBP Pathogenetic Substitution.

Petito G et al.

Antioxidants (basel, Switzerland), 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

38126188 (PubMed )
Supplement: supplement_1.xlsx › Table_S8

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.

Lam WKJ et al.

The Lancet Regional Health. Western Pacific, 2025

Molecular Biomarkers of Neurodegeneration in Amyotrophic Lateral Sclerosis.

Shevchuk DV et al.

Biochemistry. Biokhimiia, 2025

TDP-43 as a potential retinal biomarker for neurodegenerative diseases.

Glashutter M et al.

Frontiers in Neuroscience, 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

40589786 (PubMed )
Supplement: Table_1.xlsx › Hoja_1

Proteomic Identification of ALDOA as a Pathogenic TDP-43 Interaction Partner in ALS.

Yan K et al.

Degenerative Neurological and Neuromuscular Disease, 2025

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.

Feng M et al.

Nature Communications, 2024

39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations

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

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

Elevated nuclear TDP-43 induces constitutive exon skipping.

Carmen-Orozco RP et al.

Molecular Neurodegeneration, 2024

Impact of histone deacetylase inhibition and arimoclomol on heat shock protein expression and disease biomarkers in primary culture models of familial ALS.

Fernández Comaduran M et al.

Cell Stress & Chaperones, 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

TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43.

Godoy-Corchuelo JM et al.

Neurobiology of Disease, 2024

The implications of physiological biomolecular condensates in amyotrophic lateral sclerosis.

Fakim H et al.

Seminars in Cell & Developmental Biology, 2024

Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia.

Marques C et al.

Acta Neuropathologica, 2024

Drug Screening and Validation Targeting TDP-43 Proteinopathy for Amyotrophic Lateral Sclerosis.

Xin J et al.

Aging and Disease, 2024

Disease survival and progression in TARDBP ALS patients from Sardinia, Italy.

Borghero G et al.

Journal of Neurology, 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

Scalable, optically-responsive human neuromuscular junction model reveals convergent mechanisms of synaptic dysfunction in familial ALS.

Chen D et al.

Biorxiv : the Preprint Server for Biology, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."