Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.

Chiara CavestroFrancesca MorraAndrea LegatiMarco D'AmatoAlessia NascaArcangela IusoNaomi LubarrJennifer L MorrisonPatricia G WheelerClara Serra-JuhéBenjamín Rodríguez-SantiagoEulalia Turón-ViñasClement ProuteauMagalie BarthSusan J HayflickDaniele Ghezzi Valeria Tiranti Ivano Di Meo

Published in: Annals of clinical and translational neurology (2024)

These results not only extend the clinical phenotype associated with COASY variants but also suggest a continuum between CoPAN and PCH12. The intricate interplay of altered cellular processes and signaling pathways provides valuable insights for further research into the pathogenesis of COASY-associated diseases.

Keyphrases

copy number
signaling pathway
genome wide
gene expression
epithelial mesenchymal transition
pi k akt
rna seq
cell proliferation