Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.S379P
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TARDBP

NM_007375.4:p.S379P

Associated Papers

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

Pir GJ et al.

The Febs Journal, 2026

Loss of Nuclear TDP-43 Impairs Lipid Metabolism in Microglia-Like Cells.

Kabra K et al.

Biorxiv : the Preprint Server for Biology, 2025

41000837 (PubMed )
Supplement: media-2.pdf

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

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

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

Proteomic Identification of ALDOA as a Pathogenic TDP-43 Interaction Partner in ALS.

Yan K et al.

Degenerative Neurological and Neuromuscular Disease, 2025

Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review.

Lombardi M et al.

Genes, 2023

38002982 (PubMed )
Supplement: genes-14-02039-s001.zip › genes-2688630-supplementary › genes-2688630.xlsx › 267_paz

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

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

Versluys L et al.

Frontiers in Neuroscience, 2022

Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.

Mesaros M et al.

Genes, 2021

35052416 (PubMed )
Supplement: genes-13-00076-s001.zip › genes-1514337-supplementary.pdf

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

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

Tziortzouda P et al.

Nature Reviews. Neuroscience, 2021

Cryo-EM structure of amyloid fibrils formed by the entire low complexity domain of TDP-43.

Li Q et al.

Nature Communications, 2021

Destination Amyotrophic Lateral Sclerosis.

Keon M et al.

Frontiers in Neurology, 2021

33854469 (PubMed )
Supplement: Table_1.XLSX › Genes

Molecular dissection of ALS-linked TDP-43 - involvement of the Gly-rich domain in interaction with G-quadruplex mRNA.

Ishiguro A et al.

Febs Letters, 2020

A novel S379A TARDBP mutation associated to late-onset sporadic ALS.

Sprovieri T et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?

Hergesheimer RC et al.

Brain : a Journal of Neurology, 2019

30938443 (PubMed )
Supplement: awz078_supplementary_data.pdf

Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis.

Prasad A et al.

Frontiers in Molecular Neuroscience, 2019

Review: Prion-like mechanisms of transactive response DNA binding protein of 43 kDa (TDP-43) in amyotrophic lateral sclerosis (ALS).

Smethurst P et al.

Neuropathology and Applied Neurobiology, 2015

Emerging mechanisms of molecular pathology in ALS.

Peters OM et al.

The Journal of Clinical Investigation, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders.

Janssens J et al.

Human Molecular Genetics, 2013

Reducing TDP-43 aggregation does not prevent its cytotoxicity.

Liu R et al.

Acta Neuropathologica Communications, 2013

TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.

Lattante S et al.

Human Mutation, 2013

Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins.

Watanabe S et al.

The Journal of Biological Chemistry, 2013

Absence of mutations in exon 6 of the TARDBP gene in 207 Chinese patients with sporadic amyotrohic lateral sclerosis.

Ye CH et al.

Plos One, 2013

Novel TARDBP mutations in Nordic ALS patients.

Chiang HH et al.

Journal of Human Genetics, 2012

[Intracellular seeded aggregation of TDP-43].

Nonaka T et al.

Rinsho Shinkeigaku = Clinical Neurology, 2012

Mutational analysis of TARDBP in neurodegenerative diseases.

Ticozzi N et al.

Neurobiology of Aging, 2011

TDP-43 and FUS/TLS: cellular functions and implications for neurodegeneration.

Fiesel FC et al.

The Febs Journal, 2011

The role of mutant TAR DNA-binding protein 43 in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

Janssens J et al.

Biochemical Society Transactions, 2011

An ALS-associated mutation affecting TDP-43 enhances protein aggregation, fibril formation and neurotoxicity.

Guo W et al.

Nature Structural & Molecular Biology, 2011

FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS.

Tsai CP et al.

Neurobiology of Aging, 2011

Protein misdirection inside and outside motor neurons in Amyotrophic Lateral Sclerosis (ALS): a possible clue for therapeutic strategies.

Ido A et al.

International Journal of Molecular Sciences, 2011

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis.

Kirby J et al.

Neurogenetics, 2010

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.

Lagier-Tourenne C et al.

Human Molecular Genetics, 2010

Pathogenic TARDBP mutations in amyotrophic lateral sclerosis and frontotemporal dementia: disease-associated pathways.

Barmada SJ et al.

Reviews in the Neurosciences, 2010

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis.

Pesiridis GS et al.

Human Molecular Genetics, 2009

Identification of casein kinase-1 phosphorylation sites on TDP-43.

Kametani F et al.

Biochemical and Biophysical Research Communications, 2009

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

Corrado L et al.

Human Mutation, 2009

[Study of mutations in 5'-noncoding region of BCL-6 gene in B-cell non-Hodgkin's lymphomas].

Min DL et al.

Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 2004

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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."