The signal sequence of AMD-related variant Cystatin C is not sufficient for mistrafficking to mitochondria

A. Riccio, M. Jackson, W. Hunziker, L.I. Paraoan

Research output: Contribution to journalArticle (journal)peer-review

Abstract

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.
Original languageEnglish
JournalInvestigative Ophthalmology & Visual Science
Volume55
Issue number13
Publication statusPublished - 1 Jun 2014

Keywords

  • 412 age-related macular degeneration
  • 701 retinal pigment epithelium
  • 600 mitochondria

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