A new study identifies PDE3A mutations as the cause of brachydactyly type E with hypertension. These mutations alter PDE3A activity by uncovering cryptic sites for phosphorylation by PKA and PKC, leading to enzyme hyperactivation that abnormally lowers cAMP levels.
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Houslay, M. Hypertension linked to PDE3A activation. Nat Genet 47, 562–563 (2015). https://doi.org/10.1038/ng.3316
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DOI: https://doi.org/10.1038/ng.3316
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