Supplementary Materials

Supplementary Material for:

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

Michael E. Ward, Robert Chen, Hsin-Yi Huang, Connor Ludwig, Maria Telpoukhovskaia, Ali Taubes, Helene Boudin, Sakura S. Minami, Meredith Reichert, Philipp Albrecht, Jeffrey M. Gelfand, Andres Cruz-Herranz, Christian Cordano, Marcel V. Alavi, Shannon Leslie, William W. Seeley, Bruce L. Miller, Eileen Bigio, Marek-Marsel Mesulam, Matthew S. Bogyo, Ian R. Mackenzie, John F. Staropoli, Susan L. Cotman, Eric J. Huang, Li Gan,* Ari J. Green*

*Corresponding author. Email: lgan{at}gladstone.ucsf.edu (L.G.); agreen{at}ucsf.edu (A.J.G.)

Published 12 April 2017, Sci. Transl. Med. 9, eaah5642 (2017)
DOI: 10.1126/scitranslmed.aah5642

This PDF file includes:

  • Fig. S1. Increased lipofuscin in retinas from aged Grn−/− but not Grn+/− mice.
  • Fig. S2. Increased subunit C deposition in retinas of Grn−/− mice.
  • Fig. S3. Progranulin-deficient microglia accumulate NCL-like lysosomal storage material.
  • Fig. S4. EM analysis of postmortem spinal cord from control subjects and heterozygous GRN mutation carriers.
  • Fig. S5. Increased NCL-like storage material in lymphoblasts from heterozygous GRN mutation carriers versus sibling controls.
  • Fig. S6. Reduced cysteine cathepsin protease activity and cathepsin D activity in HDFs from heterozygous GRN mutation carriers versus sibling controls.
  • Table S1. Patient characteristics and quantification of human retinal autofluorescence imaging.
  • Table S2. Patient characteristics and quantification of human OCT macular cross-sectional scans.
  • Legend for table S3

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Other Supplementary Material for this manuscript includes the following:

  • Table S3 (Microsoft Excel format). Data values for small sample sizes.

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