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Article

Functional assessment of protein variants in structured domains by fluorescence cross-correlation spectroscopy.

Scientific reports - 2 Jan 2026

Mateu-Regué Àngels, Mariani Luca, Bagger Frederik Otzen, Bose Muthiah, Nielsen Finn Cilius

Abstract excerpt

With the expanding catalogue of novel disease-genes, there is an increasing need to establish the significance of potential disease-causing variants. Based on the idea that pathogenic variants in structured protein domains disturb folding and association with macromolecular assemblies, we employed Fluorescence Correlation and Cross-Correlation Spectroscopy (FCS and FCCS) to assess in vivo protein complex...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41484234
DOI: 10.1038/s41598-025-34563-6
PMCID: PMC12867984

Genes

BRCA1
BARD1
JUND
MEN1
MSH2
MSH6
RBBP8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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