Extended polyene formation by a cryptic iterative polyketide synthase from .

Many reactive intermediates leading to high value molecules are biosynthesised by multifunctional enzymes in Actinobacteria. Herein we report the workings of a cryptic iterative polyketide synthase (iPKS) from the marine microorganism PR4. The iPKS generates extended polyenes up to C22 nonaenes, preluding novel chemistry and biology.

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown. We have now identified four truncating mutations involving the gene PRRT2 in the vast majority (24/25) of well-characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families.