Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.D65E
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TARDBP

NM_007375.4:p.D65E

Associated Papers

Pathogenic TDP-43 in amyotrophic lateral sclerosis.

Chong ZZ et al.

Drug Discovery Today, 2025

Proteomics elucidating physiological and pathological functions of TDP-43.

García Morato J et al.

Proteomics, 2023

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

Prasad A et al.

Frontiers in Molecular Neuroscience, 2019

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

Lattante S et al.

Human Mutation, 2013

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

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

TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation.

Bäumer D et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2009

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

Pesiridis GS et al.

Human Molecular Genetics, 2009

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

Corrado L et al.

Human Mutation, 2009

TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.

Guerreiro RJ et al.

Plos One, 2008

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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."