Supplementary Materials

Supplementary Material for:

Proteasome inhibitors increase missense mutated dysferlin in patients with muscular dystrophy

Bilal A. Azakir, Beat Erne, Sabrina Di Fulvio, Guido Stirnimann, Michael Sinnreich*

*Corresponding author. E-mail: michael.sinnreich@unibas.ch

Published 20 August 2014, Sci. Transl. Med. 6, 250ra112 (2014)
DOI: 10.1126/scitranslmed.3009612

This PDF file includes:

  • Fig. S1. DYSF mutational analysis of study participants.
  • Table S1. Effect of bortezomib administration on dysferlin expression levels in skeletal muscle in three muscular dystrophy patients with a homozygous Arg555Trp DYSF mutation.
  • Table S2. Effect of bortezomib administration on dysferlin expression levels in monocytes.
  • Table S3. Effect of different proteasome inhibitors on dysferlin expression and membrane resealing in cultured primary myoblasts from a patient harboring a homozygous Arg555Trp DYSF mutation.
  • Table S4. Proteasome inhibition restores membrane resealing in human cultured myoblasts harboring one missense and one null DYSF allele.

[Download PDF]