NeuroscienceProceedings of the National Academy of SciencesPeer-reviewed
Parkinsonism Sac domain mutation in Synaptojanin-1 affects ciliary properties in iPSC-derived dopaminergic neurons
Nisha Mohd Rafiq, Kenshiro Fujise, Martin Rosenfeld…·Pietro V. De Camilli
This study investigates how a mutation in Synaptojanin-1 affects ciliary properties in iPSC-derived dopaminergic neurons, revealing impaired protein clearance and altered Ca2+ channel distribution.