iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation

Abstract 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 ind...

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Principais autores:	Alba Tristán‐Noguero, Irene Fernández‐Carasa, Carles Calatayud, Cristina Bermejo‐Casadesús, Meritxell Pons‐Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo‐Jiménez, Salvador Ibáñez, Mercè Pineda, Rafael Artuch, Ángel Raya, Àngels García‐Cazorla, Antonella Consiglio
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Springer Nature 2023-02-01
סדרה:	EMBO Molecular Medicine
נושאים:	dopamine iPSC L‐Dopa Parkinsonism tyrosine hydroxylase deficiency
גישה מקוונת:	https://doi.org/10.15252/emmm.202215847
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!