Kavli Affiliate: Pietro De Camilli | Authors: Nisha Mohd Rafiq, Kenshiro Fujise, Martin Rosenfeld, Peng Xu, Yumei Wu and Pietro De Camilli | Summary: Synaptojanin-1 (SJ1) is a major neuronal-enriched PI(4,5)P2 4- and 5-phosphatase implicated in the shedding of endocytic factors during endocytosis. A mutation (R258Q) that impairs selectively its 4-phosphatase activity causes Parkinsonism in […]
Continue.. Parkinsonism Sac domain mutation in Synaptojanin-1 affects ciliary properties in iPSC-derived dopaminergic neurons