Article

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

2022-02-26

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 w...

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Literature Corpus work: 1150a369-51c2-510f-942c-8b779a38f9aa
DOI: 10.1101/2022.02.24.481741

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