Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.Q331K
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TARDBP

NM_007375.4:p.Q331K

Associated Papers

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

PPAR-Delta Agonist Therapies Did Not Rescue Hallmark Disease Phenotypes in Two Sets of Preclinical Trials in ALS TDP-43 and C9orf72 Model Mice.

Luong DT et al.

International Journal of Molecular Sciences, 2026

Association of TMEM106B Gene rs1990622 Polymorphism with Cognitive Impairment in Adolescents with Depressive Disorder.

Zhang C et al.

The Tohoku Journal of Experimental Medicine, 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

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

Early brain-wide disruption of sleep microarchitecture in amyotrophic lateral sclerosis.

Lang C et al.

The Journal of Clinical Investigation, 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

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

Oligodendroglial Densities and Myelin Structure Are Altered in TDP-43 Related Amyotrophic Lateral Sclerosis.

Lewis KN et al.

Glia, 2026

Aberrant NSUN1 activity connects m5C-RNA modification to TDP-43 neurotoxicity in ALS/FTD.

Parra-Torres M et al.

Life Science Alliance, 2026

The TDP-43I383V heterozygous mutation results in increased TDP-43 expression and altered neuronal activity in ALS patient-derived iPSC motor neurons.

Chikuchi R et al.

Neuroscience Research, 2026

Axonal Eif5a hypusination controls local translation and mitigates defects in FUS-ALS.

Piol D et al.

Nature Neuroscience, 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

TDP-43 directly inhibits mRNA accumulation in neurites through modulation of mRNA stability.

Moffatt C et al.

The Embo Journal, 2025

BLOC1S1 depletion via splice-switching oligonucleotides improves mitochondrial respiration and rescues ALS phenotypes.

Hor JH et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025

LINE-1 retrotransposition in a mouse TDP-43 model of neurodegeneration marks motor cortex neurons for cell-intrinsic and cell non-autonomous programmed cell death.

Korada S et al.

Plos Genetics, 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

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

Spedding M

Cells, 2025

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

Gao J 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

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

Zhou X et al.

Pharmacological Research, 2025

TDP-43 loss induces cryptic polyadenylation in ALS/FTD.

Bryce-Smith S et al.

Nature Neuroscience, 2025

TDP-43 dysfunction leads to impaired proteostasis and predisposes mice to worse neurological outcomes after brain injury.

Rotunno MS et al.

Biorxiv : the Preprint Server for Biology, 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

Is amyotrophic lateral sclerosis less severe in mice than in humans?

Dupuis L et al.

Current Opinion in Neurology, 2025

PolyQ-Expansion of Ataxin-2 Disrupts Microtubule Stability and Impairs Axon Outgrowth.

Kim SK et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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

Nuclear pore complex dysfunction drives TDP-43 pathology in ALS.

Ramírez-Núñez O et al.

Redox Biology, 2025

Proteomic analysis of brain and spinal cord tissue reveals distinct immune and mitochondrial processes between human and mouse ALS models.

Spiteri AG et al.

Scientific Reports, 2025

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

Fioretti PV et al.

Brain : a Journal of Neurology, 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."