Missense Mutations in the Progranulin Gene Linked to Frontotemporal Lobar Degeneration with Ubiquitin-immunoreactive Inclusions Reduce Progranulin Production and Secretion

Sunita S. Shankaran, Anja Capell, Alexander T. Hruscha, Katrin Fellerer, Manuela Neumann, Bettina Schmid and Christian Haass

The Journal of Biological Chemistry 283 ( 3 ): 1744 - 1753 , 2008