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Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism

Abstract:

Most inherited neurodegenerative disorders are incurable, and often only palliative treatment is available. Precision medicine has great potential to address this unmet clinical need. We explored this paradigm in dopamine transporter deficiency syndrome (DTDS), caused by biallelic loss-of-function mutations in SLC6A3, encoding the dopamine transporter (DAT). Patients present with early infantile hyperkinesia, severe progressive childhood parkinsonism, and raised cerebrospin...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1126/scitranslmed.aaw1564

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Role:
Author
ORCID:
0000-0002-7946-9965
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Role:
Author
ORCID:
0000-0002-1430-3614
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Role:
Author
ORCID:
0000-0003-1381-5009
Publisher:
American Association for the Advancement of Science
Journal:
Science Translational Medicine More from this journal
Volume:
13
Issue:
594
Article number:
eaaw1564
Publication date:
2021-05-19
Acceptance date:
2021-02-20
DOI:
EISSN:
1946-6242
ISSN:
1946-6234
Pmid:
34011628

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