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Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy

1 Dec 2022

Abstract excerpt

The recently discovered neurological disorder NEDAMSS is caused by heterozygous truncations in the transcriptional regulator IRF2BPL. Here, we reprogram patient skin fibroblasts to astrocytes and neurons to study mechanisms of this newly described disease. While full-length IRF2BPL primarily localizes to the nucleus, truncated patient variants sequester the wild-type protein to the cytoplasm and cause...

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PMID: 36476864
DOI: 10.1016/j.celrep.2022.111751

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