Article
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
Annals of clinical and translational neurology - 1 Jun 2024
Cavestro Chiara, Morra Francesca, Legati Andrea, D'Amato Marco, Nasca Alessia, Iuso Arcangela, Lubarr Naomi, Morrison Jennifer L, Wheeler Patricia G, Serra-Juhé Clara, Rodríguez-Santiago Benjamín, Turón-Viñas Eulalia, Prouteau Clement, Barth Magalie, Hayflick Susan J, Ghezzi Daniele, Tiranti Valeria, Di Meo Ivano
Abstract excerpt
OBJECTIVE: COASY, the gene encoding the bifunctional enzyme CoA synthase, which catalyzes the last two reactions of cellular de novo coenzyme A (CoA) biosynthesis, has been linked to two exceedingly rare autosomal recessive disorders, such as COASY protein-associated neurodegeneration (CoPAN), a form of neurodegeneration with brain iron accumulation (NBIA), and pontocerebellar hypoplasia type 12 (PCH12). We aimed...
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