Patient-derived cornea organoid model to study metabolomic characterization of rare disease: aniridia-associated keratopathy

Summary

This study emphasizes the profound impact of AAK mutations on metabolism, particularly in amino acid biosynthesis and energy metabolism pathways. © 2025. The Author(s).

Authors Koc AC, Sari V, Kocak G, Recber T, Nemutlu E, Aberdam D, Güven S
Journal BMC ophthalmology
Publication Date 2025 Jan 10;25(1):14
PubMed 39794714
PubMed Central PMC11724546
DOI 10.1186/s12886-024-03831-w

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