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Article

Pathogenicity Classification of TARDBP Variants of Uncertain Significance: An Integrative Clinical Characterization and Functional Validation.

Cells - 8 Jul 2026

Yang Chao-Sen, Ma Yuan, Xie Jia-Li, Lou Xin-Yan, Lv Yong-Ting, Wu Tan-Xia, Xu Hai-Feng, Zou Sheng-Mei, Wu Zhi-Ying, Li Hong-Fu

Abstract excerpt

TAR DNA binding protein (TARDBP) is one of the major causative genes of amyotrophic lateral sclerosis (ALS), which drives disease progression through both gain-of-toxicity (GOT) and loss-of-function (LOF) mechanisms. The mutant TDP-43 exhibits aberrant nucleocytoplasmic distribution and forms cytotoxic hyperphosphorylated aggregates, a process that can be robustly recapitulated in vitro. Thus, functional assays...

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PMID: 42505342
DOI: 10.3390/cells15141232
PMCID: PMC13407010

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TARDBP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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