Jos Jansen

6 143 Discussion and conclusion Box 1 Research agenda Short term ■ Elucidation of the interaction of human CCDC115 and TMEM199 ■ Elucidation of the interaction of both with the V-ATPase ■ Elucidation of the protein-protein interaction network for the wildtype and the pathogenic variants ■ Establishing the effect on intracellular lipid and copper metabolism ■ Establishing the effect on protein transport Long term ■ Establishing an in vivo knockout research model ■ Exploring possible treatment options for patients ■ Increasing CDG awareness among pediatricians and hepatologists