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Article

A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro.

FEBS letters - 25 Jun 2008

Winton Matthew J, Van Deerlin Vivianna M, Kwong Linda K, Yuan Wuxing, Wood Elisabeth McCarty, Yu Chang-En, Schellenberg Gerard D, Rademakers Rosa, Caselli Richard, Karydas Anna, Trojanowski John Q, Miller Bruce L, Lee Virginia M-Y

Abstract excerpt

TAR DNA-binding protein-43 (TDP-43) is a highly conserved, ubiquitously expressed nuclear protein that was recently identified as the disease protein in frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) and amyotrophic lateral sclerosis (ALS). Pathogenic TDP-43 gene (TARDBP) mutations have been identified in familial ALS kindreds, and here we report a TARDBP variant (A90V) in a...

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Source

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Identifiers

PMID: 18505686
DOI: 10.1016/j.febslet.2008.05.024
PMCID: PMC2478749

Genes

TARDBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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