Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.N352T
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TARDBP

NM_007375.4:p.N352T

Associated Papers

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

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

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

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

Versluys L et al.

Frontiers in Neuroscience, 2022

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

Tziortzouda P et al.

Nature Reviews. Neuroscience, 2021

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

TDP-43 post-translational modifications in health and disease.

Buratti E

Expert Opinion on Therapeutic Targets, 2018

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

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

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

Role of selected mutations in the Q/N rich region of TDP-43 in EGFP-12xQ/N-induced aggregate formation.

Budini M et al.

Brain Research, 2012

Mutational analysis of TARDBP in neurodegenerative diseases.

Ticozzi N et al.

Neurobiology of Aging, 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

FTD and ALS: a tale of two diseases.

Ferrari R et al.

Current Alzheimer Research, 2011

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

Lagier-Tourenne C et al.

Human Molecular Genetics, 2010

[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."