Over 30 years ago, yeast vacuolar protein sorting 13 (Vps13) was discovered as one of the proteins required for carboxypeptidase Y sorting. The presence of four human Vps13 orthologues and their associations with the onsets of clinically distinct neurological and developmental disorders calls for the demand to mechanistically study each VPS13 protein in multicellular organisms. The challenge has been in defining the localization and functional contributions of each VPS13 family member in molecular pathways. Data presented in this thesis attempts to uncover the subcellular localization and molecular functions of VPS13A in healthy tissue and the consequences of its absence in a Drosophila and human cell ChAc models.
|Translated title of the contribution
|VPS13A is een multitasking-eiwit op het kruispunt tussen organelcommunicatie en eiwithomeostase
|Doctor of Philosophy
|Place of Publication
|Published - 2018