Phosphodiesterase activity is regulated by CC2D1A that is implicated in non-syndromic intellectual disability.

ABSTRACT:

Background

Cyclic adenosine 3',5'-monophosphate (cAMP) is a key regulator of many cellular processes, including in the neuronal system, and its activity is tuned by Phosphodiesterase (PDE) activation. Further, the CC2D1A protein, consisting of N-Terminal containing four DM14 domains and C-terminal containing C2 domain, was shown to regulate the cAMP-PKA pathway. A human deletion mutation lacking the fourth DM14 and the adjacent C2 domain results in Non Syndromic Intellectual Disability (NSID) also referred to as Non Syndromic Mental Retardation (NSMR).

Findings

Here we demonstrate that in Mouse Embryonic Fibroblasts (MEF) CC2D1A co-localizes with PDE4D in the cytosol before cAMP stimulation and on the periphery after stimulation, and that the movement to the periphery requir

SUBMITTER: Al-Tawashi A 

PROVIDER: S-EPMC3704924 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature