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.
| Original language | English |
|---|---|
| Pages (from-to) | 562-563 |
| Number of pages | 2 |
| Journal | Nature Genetics |
| Volume | 47 |
| Issue number | 6 |
| Early online date | 27 May 2015 |
| DOIs | |
| Publication status | Published - Jun 2015 |
Keywords
- cyclic nucleotide phosphodiesterases, type 3
- genetic association studies
- genetic predisposition to disease
- humans
- hypertension
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