| Autor: |
Natalie M. Frederick, Morgan M. Pooler, Parth Shah, Alessandro Didonna, Puneet Opal |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Annals of Clinical and Translational Neurology, Vol 8, Iss 12, Pp 2302-2308 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2328-9503 |
| DOI: |
10.1002/acn3.51481 |
| Popis: |
Abstract The primary dystonia DYT6 is caused by mutations in the transcription factor Thanatos‐associated protein 1 (THAP1). To understand THAP1’s functions, we generated mice lacking THAP1 in the nervous system. THAP1 loss causes locomotor deficits associated with transcriptional changes. Since many of the genes misregulated involve dopaminergic signaling, we pharmacologically challenged the two striatal canonical dopamine pathways: the direct, regulated by the D1 receptor, and the indirect, regulated by the D2 receptor. We discovered that depleting THAP1 specifically interferes with the D2 receptor responses, pointing to a selective misregulation of the indirect pathway in DYT6 with implications for pathogenesis and treatment. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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