Article
PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases.
Neuropediatrics - 1 Aug 2024
Kalampokini Stefania, Xiromerisiou Georgia, Bargiotas Panagiotis, Anastasiadou Violetta Christophidou, Costeas Paul, Hadjigeorgiou Georgios M
Abstract excerpt
Cyclic nucleotide phosphodiesterase (PDE) enzymes catalyze the breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP), which act as intracellular second messengers for signal transduction pathways and modulate various processes in the central nervous system. Recent discoveries that mutations in genes encoding different PDEs, including PDE10A, are responsible for rare forms of...
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