Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.M337V
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TARDBP

NM_007375.4:p.M337V

Associated Papers

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

Pang P et al.

Biochemistry and Biophysics Reports, 2026

TDP-43 pathology is linked to motor neuron loss but is independent of stress granules in vivo.

Dubinski A et al.

Biorxiv : the Preprint Server for Biology, 2026

Golgi fragmentation driven by the USP11-ITCH axis triggers autolysosomal failure in neurodegeneration.

Xiang Q et al.

Autophagy, 2026

Mutant TDP-43 drives impairments in axonal transport and glycolysis in a mouse stem-cell-derived motor neuron model of amyotrophic lateral sclerosis (ALS).

Carroll E et al.

Cell Death & Disease, 2026

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

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

Molecular Mechanisms and Therapeutic Potential of Degron-Mediated Proteostasis Regulation in Neurodegenerative Diseases.

Nishanth DS et al.

Cellular and Molecular Neurobiology, 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

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

Neurodegenerative disease and autophagy in iPSC-based models.

Odonchimed S et al.

Neuroscience Research, 2026

Alleviation of mutant TDP-43-mediated neuropathology by inducible stem cells in monkeys.

Song X et al.

International Journal of Biological Sciences, 2026

G-Quadruplexes Abet Neuronal Burnout in ALS and FTD.

Herbert A

Antioxidants (basel, Switzerland), 2025

Site-specific methionine oxidation alters structure and phase separation of TDP-43 C-terminal domain.

Ozguney B et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Alessandrini F et al.

Neuron, 2025

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

Mouhi S et al.

Trends in Cell Biology, 2025

Ubiquitination in the Nervous System: From Molecular Mechanisms to Disease Implications.

Xue Y et al.

Molecular Neurobiology, 2025

CRISPR/Cas9 a genomic engineering technology for treatment in ALS mouse models.

Khan H et al.

Regenerative Therapy, 2025

Structural details of helix-mediated multimerization of the conserved region of TDP-43 C-terminal domain.

Rizuan A et al.

Nature Communications, 2025

MARK2 regulates C9orf72 repeat-associated non-AUG translation.

Lu YN et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Co-localization of tau and TDP-43 after extracellular vesicle delivery to cells.

Aliakbari F et al.

The Febs Journal, 2025

In-Depth Study of Low-Complexity Domains: From Structural Diversity to Disease Mechanisms.

Xu H et al.

Cells, 2025

On the potential roles of TDP-43 in the formation of membraneless organelles and their transformation into toxic aggregates.

Sergeeva OS et al.

Biochemical and Biophysical Research Communications, 2025

Histone Post-Translational Modifications and DNA Double-Strand Break Repair in Neurodegenerative Diseases: An Epigenetic Perspective.

Yeasmin A et al.

Biology, 2025

The mechanisms underlying TDP-43-associated neurodegeneration in Alzheimer's disease and related dementias.

Gao J et al.

Molecular Psychiatry, 2025

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

Guo S et al.

Molecular Psychiatry, 2025

C9orf72 ALS-causing mutations lead to mislocalization and aggregation of nucleoporin Nup107 into stress granules.

Bilican S et al.

Febs Letters, 2025

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

Lewis KN et al.

Neurochemistry International, 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

TDP-43 nuclear loss in FTD/ALS causes widespread alternative polyadenylation changes.

Zeng Y et al.

Nature Neuroscience, 2025

ITCH regulates Golgi integrity and proteotoxicity in neurodegeneration.

Xiang Q et al.

Science Advances, 2025

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

James RE et al.

Brain : a Journal of Neurology, 2025

RNA helicase maheshvara interacts with TDP-43 and exacerbates neurodegeneration in Drosophila model of amyotrophic lateral sclerosis.

Pandey P et al.

Neurobiology of Disease, 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

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

Yip MK et al.

Cureus, 2025

MYC-driven gliosis impairs neuron-glia communication in amyotrophic lateral sclerosis.

Fioretti PV et al.

Brain : a Journal of Neurology, 2025

In vivo self-assembled siRNAs ameliorate neurological pathology in TDP-43-associated neurodegenerative disease.

Wu J et al.

Brain : a Journal of Neurology, 2025

Nemo-like kinase disrupts nuclear import and drives TDP43 mislocalization in ALS.

Bekier ME et al.

The Journal of Clinical Investigation, 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

The aging factor EPS8 induces disease-related protein aggregation through RAC signaling hyperactivation.

Koyuncu S et al.

Nature Aging, 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."