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Dystonia 16 (DYT16) mutations in PACT cause dysregulated PKR activation and eIF2α signaling leading to a compromised stress response.
Neurobiol Dis. 2020 Dec;146:105135. doi: 10.1016/j.nbd.2020.105135. Epub 2020 Oct 10.
Neurobiol Dis. 2020.
PMID: 33049316
Free article.
A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis.
Burnett SB, Vaughn LS, Strom JM, Francois A, Patel RC.
Burnett SB, et al.
J Cell Biochem. 2019 Nov;120(11):19004-19018. doi: 10.1002/jcb.29223. Epub 2019 Jun 27.
J Cell Biochem. 2019.
PMID: 31246344
Free PMC article.
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DYT-PRKRA Mutation P222L Enhances PACT's Stimulatory Activity on Type I Interferon Induction.
Vaughn LS, Frederick K, Burnett SB, Sharma N, Bragg DC, Camargos S, Cardoso F, Patel RC.
Vaughn LS, et al. Among authors: burnett sb.
Biomolecules. 2022 May 17;12(5):713. doi: 10.3390/biom12050713.
Biomolecules. 2022.
PMID: 35625640
Free PMC article.
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