PSEN1 and familial disease: In particular, downregulation of TRPML1 was reported in APP/PSEN1 transgenic mice, a mouse model for AD research carrying mutated forms of APP and presenilin-1 (PSEN1) genes, both associated with early-onset familial disease, which is linked to a disruption in the autophagy-related PPARγ/AMPK/mTOR signaling pathway [160].