Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.K263E
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TARDBP

NM_007375.4:p.K263E

Associated Papers

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

Zhang X et al.

Brain Research, 2026

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

Pir GJ et al.

The Febs Journal, 2026

J-domain proteins cooperate with Hsp70 to drive multiphase separation of RNA-binding-deficient TDP-43.

Yeo KH et al.

The Journal of Biological Chemistry, 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

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

Guo S et al.

Molecular Psychiatry, 2025

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

Zeng Y et al.

Nature Neuroscience, 2025

Induced proximity to PML protects TDP-43 from aggregation via SUMO-ubiquitin networks.

Wagner K et al.

Nature Chemical Biology, 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

Familial ALS/FTD-associated RNA-binding deficient TDP-43 mutants cause neuronal and synaptic transcript dysregulation in vitro.

Magarotto M et al.

Human Molecular Genetics, 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

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

Semantic behavioral variant frontotemporal dementia and semantic dementia associated with TARDBP mutations.

Piga G et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025

Pathogenic TDP-43 in amyotrophic lateral sclerosis.

Chong ZZ et al.

Drug Discovery Today, 2025

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

Balendra R et al.

The Lancet. Neurology, 2025

Enhanced secretion of the amyotrophic lateral sclerosis ALS-associated misfolded TDP-43 mediated by the ER-ubiquitin specific peptidase USP19.

Picard F et al.

Cellular and Molecular Life Sciences : Cmls, 2025

Alternative 3' UTR polyadenylation is disrupted in the rNLS8 mouse model of ALS/FTLD.

Eck RJ et al.

Molecular Brain, 2025

Cysteine string protein α and a link between rare and common neurodegenerative dementias.

Rosene MJ et al.

Npj Dementia, 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

Elevated nuclear TDP-43 induces constitutive exon skipping.

Carmen-Orozco RP et al.

Molecular Neurodegeneration, 2024

38853250 (PubMed )
Supplement: 13024_2024_732_MOESM1_ESM.pdf

Understanding age-related pathologic changes in TDP-43 functions and the consequence on RNA splicing and signalling in health and disease.

Cheng F et al.

Ageing Research Reviews, 2024

The implications of physiological biomolecular condensates in amyotrophic lateral sclerosis.

Fakim H et al.

Seminars in Cell & Developmental Biology, 2024

A complex network of interdomain interactions underlies the conformational ensemble of monomeric TDP-43 and modulates its phase behavior.

Mohanty P et al.

Protein Science : a Publication of the Protein Society, 2024

Nuclear-import receptors as gatekeepers of pathological phase transitions in ALS/FTD.

Khalil B et al.

Molecular Neurodegeneration, 2024

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

Zeng Y et al.

Biorxiv : the Preprint Server for Biology, 2024

Establishment of a novel amyotrophic lateral sclerosis patient (TARDBP N345K/+)-derived brain microvascular endothelial cell model reveals defective Wnt/β-catenin signaling: investigating diffusion barrier dysfunction and immune cell interaction.

Matsuo K et al.

Frontiers in Cell and Developmental Biology, 2024

Proteomics elucidating physiological and pathological functions of TDP-43.

García Morato J et al.

Proteomics, 2023

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

Frontotemporal-TDP and LATE Neurocognitive Disorders: A Pathophysiological and Genetic Approach.

Ortiz GG et al.

Brain Sciences, 2023

Molecular Dissection of TDP-43 as a Leading Cause of ALS/FTLD.

Tamaki Y 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

35932023 (PubMed )
Supplement: 12920_2022_1327_MOESM1_ESM.docx

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

Dynamics of binding interactions of TDP-43 and RNA: An equally weighted multiscale elastic network model study.

Deng X et al.

Proteins, 2022

Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions.

Versluys L et al.

Frontiers in Neuroscience, 2022

Liquid-Liquid Phase Separation of TDP-43 and FUS in Physiology and Pathology of Neurodegenerative Diseases.

Carey JL et al.

Frontiers in Molecular Biosciences, 2022

RNA modulates physiological and neuropathological protein phase transitions.

Mann JR et al.

Neuron, 2021

Insights into the aggregation mechanism of RNA recognition motif domains in TDP-43: a theoretical exploration.

Liu W et al.

Royal Society Open Science, 2021

Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP.

Mol MO et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2021

Molecular Mechanisms Underlying TDP-43 Pathology in Cellular and Animal Models of ALS and FTLD.

Wood A et al.

International Journal of Molecular Sciences, 2021

Zn2+ modulates in vitro phase separation of TDP-432C and mutant TDP-432C-A315T C-terminal fragments of TDP-43 protein implicated in ALS and FTLD-TDP diseases.

Preethi S et al.

International Journal of Biological Macromolecules, 2021

Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregation.

Tziortzouda P et al.

Nature Reviews. Neuroscience, 2021

HSP70 chaperones RNA-free TDP-43 into anisotropic intranuclear liquid spherical shells.

Yu H et al.

Science (new York, N.y.), 2021

Frontotemporal dementia-linked P112H mutation of TDP-43 induces protein structural change and impairs its RNA binding function.

Agrawal S et al.

Protein Science : a Publication of the Protein Society, 2021

Progressive supranuclear palsy presenting with hyperkinetic movement disorder and hemiplegic dystonia: a case report.

Zhang W et al.

The International Journal of Neuroscience, 2020

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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."