Publications by authors named "Tricia A Simon"
Variants in the PRKRA gene, which encodes PACT, cause the early-onset primary dystonia DYT-PRKRA, a movement disorder associated with disruption of coordinated muscle movements. PACT and its murine homolog RAX activate protein kinase R (PKR; also known as EIF2AK2) by a direct interaction in response to cellular stressors to mediate phosphorylation of the α subunit of eukaryotic translation initiation factor 2 (eIF2α). Mice homozygous for a naturally arisen, recessively inherited frameshift mutation, Prkralear-5J, exhibit progressive dystonia.
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- - Mutations in the gene encoding PACT/RAX lead to early onset primary dystonia DYT-PRKRA, a movement disorder that affects muscle coordination.
- - The study shows that the mutated PACT/RAX protein can still interact with PKR but inhibits its activation, affecting critical cellular processes.
- - Observations in mutant mice reveal cerebellar developmental issues and reduced eIF2α phosphorylation, suggesting that PACT/RAX is essential for proper cerebellar development and is linked to the symptoms of dystonia.