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The goal of this study was to examine global alterations in gene …


Biology Articles » Biochemistry » Lipid Biochemistry » Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients » Conclusion

Conclusion
- Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients

Here we describe three novel mutant GAN alleles, including a missense mutation, an intronic mutation, and a 9.3-kb deletion. We also characterize two GAN fibroblast explants and detect perturbations of lipid metabolism in both of them. Based on the previous studies of vimentin IFs and lipid metabolism, we speculate that the abnormal accumulation of lipid droplets that we observe in GAN fibroblasts is an indirect effect of the GAN mutations and is probably mediated through IF network disruption. These fibroblast explants will be a useful tool to study the physiological functions of gigaxonin.


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