Publications by authors named "Allison M Culver"
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.
Autism spectrum disorders (ASD) are associated with defects in neuronal connectivity and are highly heritable. Genetic findings suggest that there is an overrepresentation of chromatin regulatory genes among the genes associated with ASD. ASH1 like histone lysine methyltransferase (ASH1L) was identified as a major risk factor for ASD.
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