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Article

Mutations in human prion-like domains: pathogenic but not always amyloidogenic.

Prion - 1 Dec 2024

Bartolomé-Nafría Andrea, García-Pardo Javier, Ventura Salvador

Abstract excerpt

Heterogeneous nuclear ribonucleoproteins (hnRNPs) are multifunctional proteins with integral roles in RNA metabolism and the regulation of alternative splicing. These proteins typically contain prion-like domains of low complexity (PrLDs or LCDs) that govern their assembly into either functional or pathological amyloid fibrils. To date, over 60 mutations targeting the LCDs of hnRNPs have been identified and...

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Identifiers

PMID: 38512820
DOI: 10.1080/19336896.2024.2329186
PMCID: PMC10962614

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