Article
Mutation in Prkra results in cerebellar abnormality and reduced eIF2α phosphorylation in a model of DYT-PRKRA.
Disease models & mechanisms - 1 Nov 2024
Burnett Samuel B, Culver Allison M, Simon Tricia A, Rowson Taylor, Frederick Kenneth, Palmer Kristina, Murray Stephen A, Davis Shannon W, Patel Rekha C
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.