TOMM40 Poly-T Length Variant and Age-At-Onset in Familial AD Caused by PSEN1 and PSEN2 Mutation

overexpressed in LCL fromDS individuals. SYNJ1 gene codes for the phosphoinositide phosphatase synaptojanin 1 protein, a key regulator of the signalling phospholipids phosphatidylinositol-4,5-biphosphate [PtdIns (4,5) P2]. PtdIns (4,5)P2 has been shown to interact with clathrin coated pits and to regulate endocytosis. Finally, we demonstrate that synaptojanin 1 overexpression by itself, in neuroblastoma cells and TgSYNJ1 mice, leads to the enlargement of early endosomes.