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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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I tiakina i:
Ngā kaituhi matua: 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
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Springer Nature 2023-02-01
Rangatū:EMBO Molecular Medicine
Ngā marau:
dopamine
iPSC
L‐Dopa
Parkinsonism
tyrosine hydroxylase deficiency
Urunga tuihono:https://doi.org/10.15252/emmm.202215847
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