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

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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Main Authors: 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
Format: Article
Language:English
Published: Springer Nature 2023-02-01
Series:EMBO Molecular Medicine
Subjects:
dopamine
iPSC
L‐Dopa
Parkinsonism
tyrosine hydroxylase deficiency
Online Access:https://doi.org/10.15252/emmm.202215847
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