SCAR32: Functional characterization and expansion of the clinical-genetic spectrum.

Valentina NaefMaria LietoSara SatolliRosa De MiccoMartina TroisiRosa PasquarielloStefano DocciniFlavia PriviteraAlessandro FillaAlessandro TessitoreFilippo Maria Santorelli

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

We identified a new variant, thereby expanding the genetic spectrum of PRDX3-related disease. We developed a novel zebrafish model to investigate the consequences of prdx3 depletion on neurodevelopment and thus offered a potential new tool for identifying new treatment opportunities.

Keyphrases

genome wide
copy number
gene expression
combination therapy
human health