Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.A315T
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TARDBP

NM_007375.4:p.A315T

Associated Papers

Assessment of the therapeutic effect of IGS2.7, a CK1δ protein kinase inhibitor, in combination with riluzole for the treatment of ALS-associated TDP-43 proteinopathy.

Gomez-Almeria M et al.

Neuropharmacology, 2026

TDP-43 in neurodegeneration and cancer: Decoding the mechanism of mRNA localization and translation.

Pang P et al.

Biochemistry and Biophysics Reports, 2026

Elucidation of Molecular Mechanisms of Lipid-Altered Cytotoxicity of TDP-43 Fibrils.

Purvinsh Y et al.

Acs Chemical Neuroscience, 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

Computational Exploration of the Molecular Mechanism of Epigallocatechin Gallate against TDP-43 Aggregation.

Yi W et al.

Journal of Chemical Information and Modeling, 2026

Inhibiting Glycogen Synthase Kinase 3 Suppresses TDP-43-Mediated Neurotoxicity in a Caspase-Dependent Manner.

White MA et al.

Molecular Neurobiology, 2026

Reduction of RAD23A extends lifespan and mitigates pathology in a mouse model of TDP-43 proteinopathy.

Guo X et al.

Nature Communications, 2026

41545357 (PubMed )
Supplement: 41467_2025_65104_MOESM12_ESM.pdf

Amyloidogenic oligomers derived from TDP-43 LCD promote the condensation and phosphorylation of TDP-43.

Chen BP et al.

Chemical Science, 2026

Demographic, clinical and genetic characteristics of patients with amyotrophic lateral sclerosis from two specialised centres in Austria.

Keritam O et al.

Journal of Neurology, 2026

Calcineurin depletion coincides with phosphorylated TDP-43 deposition in a mouse model of ALS/FTLD-TDP.

Waldherr SM et al.

Acta Neuropathologica Communications, 2026

A partial deletion of the Tardbp 3'UTR affects TDP-43 regulation and leads to motor dysfunction in mice.

Dinh TTH et al.

Experimental Animals, 2026

Structure, Function, Pathomechanisms and Targeting of TDP-43 in Neurodegeneration.

Zhang X et al.

Brain Research, 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

Reduced cortico-muscular output is associated with intrinsic hypoexcitability and reduced persistent inward currents in motor cortex neurons of TDP-43Q331K ALS mice.

Viteri JA et al.

Neurobiology of Disease, 2026

G-Quadruplexes Abet Neuronal Burnout in ALS and FTD.

Herbert A

Antioxidants (basel, Switzerland), 2025

Preclinical Evaluation of the Assembly Modulator PAV-615 in a Mouse Model of C9orf72-Associated ALS/FTD.

Su J et al.

Cells, 2025

Pharmacological Activation of Mitophagy Confers Neuroprotective Benefits for Amyotrophic Lateral Sclerosis.

Huang S et al.

Aging and Disease, 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

Concurrent nanotherapeutics and regulatory updates for the management of amyotrophic lateral sclerosis: a focused review for orphan drug (Tofersen).

Kumar A et al.

Orphanet Journal of Rare Diseases, 2025

Serum small non-coding RNA define molecular subtypes in amyotrophic lateral sclerosis.

Baindoor S et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025

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

Guo S et al.

Molecular Psychiatry, 2025

Muscle-derived miR-126 regulates TDP-43 axonal local synthesis and NMJ integrity in ALS models.

Ionescu A et al.

Nature Neuroscience, 2025

TDP-43 in Alzheimer's disease: Pathophysiology and therapeutic strategies.

Zhou X et al.

Pharmacological Research, 2025

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.

Wu G et al.

Translational Neurodegeneration, 2025

41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2b_pathogenic_URVs

Effects of wild-type and mutant TDP-43 on cognitive function and hippocampal neurons in mice.

He P et al.

Brain Research, 2025

Identification of disease-associated molecular signatures in the Prp-TDP-43A315T mouse model of ALS: Toward preclinical biomarker development.

Al Ojaimi Y et al.

Journal of Neuropathology and Experimental Neurology, 2025

Pathological forms of TDP-43 in amyotrophic lateral sclerosis (ALS) promote aberrant telomere elongation.

Konopka A et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025

Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.

Yuan L et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Antibody targeting TDP-43 mitigates pathogenic pathways induced by the cerebrospinal fluid of ALS.

Poulin-Brière A et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025

A Putative Role for the BCL2 Family of Proteins in the Pathophysiology of ALS.

Nuovo GJ et al.

Cns & Neurological Disorders Drug Targets, 2025

A cellular model of TDP-43 induces phosphorylated TDP-43 aggregation with distinct changes in solubility and autophagy dysregulation.

Dopler MB et al.

The Febs Journal, 2025

Cryptic Splicing of GAP43 mRNA is a Novel Hallmark of TDP-43-Associated ALS and AD.

Yang M et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

Targeting Amyotrophic Lateral Sclerosis with Gene Therapy: From Silencing Genes to Enhancing Neuroprotection.

Verdés S et al.

Human Gene Therapy, 2025

A Slower-Progressing TDP-43 rNLS8 Mouse Model for ALS: Implications for Preclinical and Mechanistic Studies.

Jagaraj CJ et al.

Neuromolecular Medicine, 2025

Aggregation of TDP-43307-319: A Dual Pathway to Forming Cylindrins and Fibrils and a Contribution to the Etiology of Amyotrophic Lateral Sclerosis.

Jin Y et al.

The Journal of Physical Chemistry. B, 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

The CCL2-CCR2 axis drives neuromuscular denervation in amyotrophic lateral sclerosis.

Nógrádi B et al.

Nature Communications, 2025

A depression-associated protein FKBP5 functions in autophagy initiation through scaffolding the VPS34 complex.

Park H et al.

Molecular Neurobiology, 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

Fluorescence Lifetime-Based FRET Biosensors for Monitoring N Terminal Domain-Dependent Interactions of TDP-43 in Living Cells: A Novel Approach for ALS and FTD Drug Discovery.

Nathan Kochen N et al.

Acs Chemical Neuroscience, 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

Challenges of modelling TDP-43 pathology in mice.

Armas JMB et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2025

Inhibiting glycogen synthase kinase 3 suppresses TDP-43-mediated neurotoxicity in a caspase-dependent manner.

White MA et al.

Research Square, 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

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

Verde EM et al.

Cells, 2025

Aggregates associated with amyotrophic lateral sclerosis sequester the actin-binding protein profilin 2.

Kubinski S et al.

Human Molecular Genetics, 2025

40063831 (PubMed )
Supplement: 20241205_supplement_ddaf020.pdf

Recent advances in CDC7 kinase inhibitors: Novel strategies for the treatment of cancers and neurodegenerative diseases.

Peng X et al.

European Journal of Medicinal Chemistry, 2025

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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."