| Literature DB >> 26018892 |
Abstract
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.Entities:
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Year: 2015 PMID: 26018892 DOI: 10.1038/ng.3316
Source DB: PubMed Journal: Nat Genet ISSN: 1061-4036 Impact factor: 38.330