Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.A381V
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TARDBP

NM_007375.4:p.A381V

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.

Foster AD et al.

Neural Regeneration Research, 2020

Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates.

Bartolome F et al.

Scientific Reports, 2017

SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.

Rea SL et al.

Experimental Cell Research, 2014

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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."