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Hypertension linked to PDE3A activation

Houslay, Miles (2015) Hypertension linked to PDE3A activation. Nature Genetics, 47 (6). pp. 562-563. ISSN 1061-4036

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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.