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Fig. 3 | BMC Medical Genetics

Fig. 3

From: A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

Fig. 3

Analysis of CISD2 protein expression in PBMCs. The CISD2 protein levels were analysed by Western blot analysis using polyclonal antibody raised against the CISD2 C-terminus encompassing the CDGSH iron sulfur domain. The CISD2 protein decreased approximately 50% in heterozygous samples compared with healthy PBMCs, and the signal was undetectable in the patient samples. β tubulin was used as loading control. The panels show representative images of three independent experiments. The histogram shows values normalized relative to a housekeeping protein and expressed as fold modulation compared with the healthy control. The error bars represent the mean ± SEM for three experiments. Ordinary one-way ANOVA, ****P < 0,0001

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BMC Medical Genetics

ISSN: 1471-2350

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