iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation
iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation
About this item
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Author / Creator
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 and Consiglio, Antonella
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
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...
Alternative Titles
Full title
iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_e22ef144c32047569cfc1dd967018c9c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e22ef144c32047569cfc1dd967018c9c
Other Identifiers
ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.15252/emmm.202215847
