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Article

Alternative low-populated conformations prompt phase transitions in polyalanine repeat expansions.

Nature communications - 2 Mar 2024

Antón Rosa, Treviño Miguel Á, Pantoja-Uceda David, Félix Sara, Babu María, Cabrita Eurico J, Zweckstetter Markus, Tinnefeld Philip, Vera Andrés M, Oroz Javier

Abstract excerpt

Abnormal trinucleotide repeat expansions alter protein conformation causing malfunction and contribute to a significant number of incurable human diseases. Scarce structural insights available on disease-related homorepeat expansions hinder the design of effective therapeutics. Here, we present the dynamic structure of human PHOX2B C-terminal fragment, which contains the longest polyalanine segment known in...

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Identifiers

PMID: 38431667
DOI: 10.1038/s41467-024-46236-5
PMCID: PMC10908835

Genes

PHOX2B

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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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