The PDE-Opathies: Diverse Phenotypes Produced by a Functionally Related Multigene Family

• Published in: Trends in genetics Vol. 37; no. 7; pp. 669 - 681
• Main Author: Bolger, Graeme B.
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.07.2021
• Subjects: cAMP; cGMP; gain-of-function mutation; gene redundancy; phosphodiesterase; gene redundancy; cGMP; gain-of-function mutation; phosphodiesterase; cAMP

The phosphodiesterase (PDE)-opathies, an expanding set of disorders caused by germline mutations in cyclic nucleotide PDEs, present an intriguing paradox. The enzymes encoded by the PDE family all hydrolyze cAMP and/or cGMP, but mutations in different family members produce very divergent phenotypes...