Perturbed interactions of mutant proteolipid protein/DM20 with cholesterol and lipid rafts in oligodendroglia: implications for dysmyelination in spastic paraplegia.

@article{KrmerAlbers2006PerturbedIO,
  title={Perturbed interactions of mutant proteolipid protein/DM20 with cholesterol and lipid rafts in oligodendroglia: implications for dysmyelination in spastic paraplegia.},
  author={Eva-Maria Kr{\"a}mer-Albers and Katja Gehrig-Burger and Christoph Thiele and Jacqueline Trotter and Klaus-Armin Nave},
  journal={The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year={2006},
  volume={26 45},
  pages={11743-52}
}
Missense mutations in the human PLP1 gene lead to dysmyelinating diseases with a broad range of clinical severity, ranging from severe Pelizaeus-Merzbacher disease (PMD) to milder spastic paraplegia type 2 (SPG-2). The molecular pathology has been generally attributed to endoplasmic reticulum (ER) retention of misfolded proteolipid protein (PLP) (and its splice isoform DM20) and induction of the unfolded protein response. As opposed to previous studies of heterologous expression systems, we… CONTINUE READING

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