Article
iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation.
EMBO molecular medicine - 8 Mar 2023
Tristán-Noguero Alba, Fernández-Carasa Irene, Calatayud Carles, Bermejo-Casadesús Cristina, Pons-Espinal Meritxell, Colini Baldeschi Arianna, Campa Leticia, Artigas Francesc, Bortolozzi Analia, Domingo-Jiménez Rosario, Ibáñez Salvador, Pineda Mercè, Artuch Rafael, Raya Ángel, García-Cazorla Àngels, Consiglio Antonella
Abstract excerpt
Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder leading to dopaminergic depletion and early-onset Parkinsonism. Affected children present with either a severe form that does not respond to L-Dopa treatment (THD-B) or a milder L-Dopa responsive form (THD-A). We generated induced pluripotent stem cells (iPSCs) from THD patients that were differentiated into dopaminergic neurons (DAn) and compared...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.