Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.G294V
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TARDBP

NM_007375.4:p.G294V

Associated Papers

The preclinical discovery and development of edaravone for the treatment of amyotrophic lateral sclerosis: what lessons have we learnt?

Charbonnel T et al.

Expert Opinion on Drug Discovery, 2026

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

Pir GJ et al.

The Febs Journal, 2026

TDP-43 dysfunction compromises UPF1-dependent mRNA metabolism in ALS.

Alessandrini F et al.

Neuron, 2025

Human TDP-43 overexpression in zebrafish motor neurons triggers MND-like phenotypes through gain-of-function mechanism.

Hogan AL et al.

Acta Neuropathologica Communications, 2025

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

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

Guo S et al.

Molecular Psychiatry, 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

Critical impact of lysine 136 in TDP-43 phase separation, compartmentalization, and aggregation in living vertebrates.

Maurel C et al.

Iscience, 2025

Human TDP-43 overexpression in zebrafish motor neurons triggers MND-like phenotypes through gain-of-function mechanism.

Hogan AL et al.

Biorxiv : the Preprint Server for Biology, 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

Exploring Protein Misfolding in Amyotrophic Lateral Sclerosis: Structural and Functional Insights.

Ivantsik O et al.

Biomedicines, 2025

Molecular Mechanisms of Protein Aggregation in ALS-FTD: Focus on TDP-43 and Cellular Protective Responses.

Verde EM et al.

Cells, 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

Proteomics Analysis of the TDP-43 Interactome in Cellular Models of ALS Pathogenesis.

Cheng F et al.

Journal of Neurochemistry, 2025

A population based study to analyse amyotrophic lateral sclerosis as a multi-step process.

D'Amico A et al.

Scientific Reports, 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

SUMO2/3 conjugation of TDP-43 protects against aggregation.

Verde EM et al.

Science Advances, 2025

39982984 (PubMed )
Supplement: sciadv.adq2475_sm.pdf

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_4.xlsx › ClinVar_filtered_variants

Glycolic acid and D-lactate-putative products of DJ-1-restore neurodegeneration in FUS - and SOD1-ALS.

Pal A et al.

Life Science Alliance, 2024

Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study.

Shen D et al.

Journal of Neurology, 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

An integrative miRNA-mRNA expression analysis identifies miRNA signatures associated with SOD1 and TARDBP patient-derived motor neurons.

Dash BP et al.

Human Molecular Genetics, 2024

Incidental and secondary findings in trio exome sequencing.

Cohen C et al.

Genes & Diseases, 2024

38523675 (PubMed )
Supplement: mmc3.pdf

RNA-binding properties orchestrate TDP-43 homeostasis through condensate formation in vivo.

Scherer NM et al.

Nucleic Acids Research, 2024

Targeting low levels of MIF expression as a potential therapeutic strategy for ALS.

Alfahel L et al.

Cell Reports. Medicine, 2024

Cyclin F can alter the turnover of TDP-43.

Rayner SL et al.

Neurobiology of Disease, 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

TDP-43 Epigenetic Facets and Their Neurodegenerative Implications.

Gimenez J et al.

International Journal of Molecular Sciences, 2023

TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP.

Arseni D et al.

Nature, 2023

37532939 (PubMed )
Supplement: 41586_2023_6405_MOESM1_ESM.pdf

Lost in local translation: TDP-43 and FUS in axonal/neuromuscular junction maintenance and dysregulation in amyotrophic lateral sclerosis.

Piol D et al.

Neuron, 2023

Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.

Lattante S et al.

European Journal of Neurology, 2023

Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.

Ruf WP et al.

Brain Communications, 2023

37223130 (PubMed )
Supplement: fcad152_supplementary_data.pdf

Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity.

Kacem I et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022

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

Downstream Effects of Mutations in SOD1 and TARDBP Converge on Gene Expression Impairment in Patient-Derived Motor Neurons.

Dash BP 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

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

Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.

Su WM et al.

Bmc Medicine, 2022

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