Niemann-Pick Type C1 I1061T Mutant Encodes a Functional Protein That Is Selected for Endoplasmic Reticulum-associated Degradation Due to Protein Misfolding

Mark E. Gelsthorpe, Nikola Baumann, Elizabeth Millard, Sarah E. Gale, S. Joshua Langmade, Jean E. Schaffer and Daniel S. Ory

The Journal of Biological Chemistry 283 ( 13 ): 8229 - 8236 , 2008