Purpose: The purpose of this study was to determine whether the signal peptide is alone responsible for the intracellular mislocalization of the age-related macular degeneration (AMD)-related variant Cystatin C in the retinal pigmented epithelium (RPE). Variant B cystatin C is generated by a point mutation in its leader sequence. As a consequence, this protein has been reported to divert from the secretory pathway to an unusual mitochondria association.
|Journal||Investigative Ophthalmology & Visual Science|
|Publication status||Published - 1 Jun 2014|
- 412 age-related macular degeneration
- 701 retinal pigment epithelium
- 600 mitochondria