ArticlePloS one2023
Effects of theophylline on ADCY5 activation-From cellular studies to improved therapeutic options for ADCY5-related dyskinesia patients.
Article in PloS one, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 11 citations in OpenAlex.
- Modulation of striatal cAMP levels: A key pathway in the treatment of hyperkinetic movement disorders.iScience · 2026Article
- Mixed Movement Disorder Caused byCase reports in neurological medicine · 2026Article
- ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.Movement disorders clinical practice · 2025Article
- Treatment Efficacy of Theophylline in ADCY5-Related Dyskinesia: A Retrospective Case Series Study.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Scoping Review on ADCY5-Related Movement Disorders.Movement disorders clinical practice · 2023Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We show the effects of the three purine derivatives, caffeine, theophylline, and istradefylline, on cAMP production by adenylyl cyclase 5 (ADCY5)-overexpressing cell lines. A comparison of cAMP levels was performed for ADCY5 wild-type and R418W mutant cells. ADCY5-catalyzed cAMP production was reduced with all three purine derivatives, while the most pronounced effects on cAMP reduction were observed for ADCY5 R418W mutant cells. The gain-of-function ADCY5 R418W mutant is characterized by an increased catalytic activity resulting in elevated cAMP levels that cause kinetic disorders or dyskinesia in patients. Based on our findings in ADCY5 cells, a slow-release formulation of theophylline was administered to a preschool-aged patient with ADCY5-related dyskinesia. A striking improvement of symptoms was observed, outperforming the effects of caffeine that had previously been administered to the same patient. We suggest considering theophylline as an alternative therapeutic option to treat ADCY5-related dyskinesia in patients.
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