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Article

Pathogenicity classification of SOD1 variants of uncertain significance by in vitro aggregation propensity.

Neurobiology of aging - 1 Mar 2023

Chen Lu-Xi, Xu Hai-Feng, Lin Hui-Xia, Yang Xin-Xia, Li Hong-Fu, Wu Zhi-Ying

Abstract excerpt

Deposition of insoluble SOD1 aggregates in motor neurons is the hallmark of SOD1-associated ALS. Mutant SOD1 protein promotes structural instability that leads to misfolded SOD1 protein aggregates, which can be recapitulated in vitro. Therefore, aggregation propensity in cell lines can be a reliable indicator for the pathogenicity classification of SOD1 variants. Herein, we performed in vitro experiment to...

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PMID: 36376198
DOI: 10.1016/j.neurobiolaging.2022.10.008

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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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