Article

Elemental Amino Acid Composition Predicts Protein Misfolding Mechanism from Sequence

2026-04-27

Abstract excerpt

Pathogenic missense variants cause disease through two mechanistically distinct routes: structural destabilization leading to protein misfolding and degradation, or functional disruption of a stably folded protein. Despite the clinical importance of this distinction — pharmacological chaperones rescue misfolded proteins, while functionally defective proteins require gene therapy or enzyme replacement — no existing...

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Literature Corpus work: f9eba45f-e099-52d4-b08e-b4f6620c2208
DOI: 10.20944/preprints202604.1777.v1

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