OR11-001 - Protein misfolding in mevalonate kinase deficiency
نویسندگان
چکیده
Methods Recombinant wild-type (WT) and variant MK proteins N-terminally fused to a maltose binding protein (MBP) were expressed in E. coli. Following affinity purification and size exclusion chromatography, the MBP-MK fusion (fMK) or cleaved MK (cMK) proteins, respectively, were characterized with regard to oligomerization, thermal unfolding monitored by differential scanning fluorimetry, thermal aggregation analyzed by right angle light scattering, and enzyme activity. These data were correlated with the disease phenotype and MK activities measured in blood cells and/or fibroblasts of 101 homozygous or compound heterozygous MKD patients, respectively, that were collected retrospectively from our center and the literature.
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Mevalonate kinase deficiency: current perspectives
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