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Article

Disrupted protein interaction dynamics in a genetic neurodevelopmental disorder revealed by structural bioinformatics and genetic code expansion.

Protein science : a publication of the Protein Society - 1 Apr 2024

Marino Valerio, Phromkrasae Wanchana, Bertacchi Michele, Cassini Paul, Chakrabandhu Krittalak, Dell'Orco Daniele, Studer Michèle

Abstract excerpt

Deciphering the structural effects of gene variants is essential for understanding the pathophysiological mechanisms of genetic diseases. Using a neurodevelopmental disorder called Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) as a genetic disease model, we applied structural bioinformatics and Genetic Code Expansion (GCE) strategies to assess the pathogenic impact of human NR2F1 variants and their...

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Identifiers

PMID: 38511490
DOI: 10.1002/pro.4953
PMCID: PMC10955615

Genes

NR2F1
CRABP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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