Supplementary Materials

Supplementary Material for:

Macrophage Models of Gaucher Disease for Evaluating Disease Pathogenesis and Candidate Drugs

Elma Aflaki, Barbara K. Stubblefield, Emerson Maniwang, Grisel Lopez, Nima Moaven, Ehud Goldin, Juan Marugan, Samarjit Patnaik, Amalia Dutra, Noel Southall, Wei Zheng, Nahid Tayebi, Ellen Sidransky*

*Corresponding author. E-mail: sidranse@mail.nih.gov

Published 11 June 2014, Sci. Transl. Med. 6, 240ra73 (2014)
DOI: 10.1126/scitranslmed.3008659

This PDF file includes:

  • Table S1. Clinical parameters of the patients with type 1 Gaucher disease studied.
  • Fig. S1. iPSC colonies from patients with type 1 Gaucher disease.
  • Fig. S2. Chromosomal analysis of iPSCs generated from two patients.
  • Fig. S3. The isotype controls for macrophages stained with different antibodies are shown.
  • Fig. S4. Glucocerebrosidase activity in type 1 Gaucher disease hMacs and iMacs.
  • Fig. S5. Glucocerebrosidase activity and clearance of glucosylceramide at different concentrations of NCGC00188758 or imiglucerase.
  • Fig. S6. Translocation of glucocerebrosidase to the lysosomes.
  • Fig. S7. Small-molecule chaperone reduces glucosylceramide accumulation in type 1 Gaucher disease hMacs with different genotypes.
  • Fig. S8. ROS production in Gaucher macrophages is increased using a small molecule.

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Other Supplementary Material for this manuscript includes the following:

  • Movie S1. (.avi and .mpg format). Control and Gaucher disease macrophages treated with NCGC00188758.
  • Movie S2. (.avi and .mpg format). Control and Gaucher disease macrophages treated with NCGC00188758.
  • Movie S3. (.avi and .mpg format). Control and Gaucher disease macrophages treated with NCGC00188758.