@article{0ad5a743bad1456a8295f07d829a273d,
title = "Pharmacological perturbation reveals deficits in D2 receptor responses in Thap1 null mice",
abstract = "The primary dystonia DYT6 is caused by mutations in the transcription factor Thanatos-associated protein 1 (THAP1). To understand THAP1{\textquoteright}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.",
author = "Frederick, {Natalie M.} and Pooler, {Morgan M.} and Parth Shah and Alessandro Didonna and Puneet Opal",
note = "Funding Information: P.O. received support from the NIH (1R01NS062051, 1R01NS082351, and R56NS108639). He has received funding from the following sources for clinical trials: Biohaven Pharmaceuticals, NIH U01NS104326 (site PI), and the National Ataxia Foundation (CRC‐SCA natural history study). A.D. reports grants and other support from the NIH (R56NS121112), the International Progressive MS Alliance (PA‐2001‐36176), the Conrad N. Hilton Foundation (17323), the National Multiple Sclerosis Society (RG‐1901‐33219), and FISM‐Fondazione Italiana Sclerosi Multipla (2014/B/1 and 2017/B/3). Publisher Copyright: {\textcopyright} 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association",
year = "2021",
month = dec,
doi = "10.1002/acn3.51481",
language = "English (US)",
volume = "8",
pages = "2302--2308",
journal = "Annals of Clinical and Translational Neurology",
issn = "2328-9503",
publisher = "John Wiley and Sons Inc.",
number = "12",
}