PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.

@article{Regis2009PLP1GD,
  title={PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.},
  author={Stefano Regis and Serena Grossi and Fabio Corsolini and Roberta Biancheri and Mirella Filocamo},
  journal={Biochimica et biophysica acta},
  year={2009},
  volume={1792 6},
  pages={
          548-54
        }
}
The PLP1 gene encodes two protein isoforms (PLP and DM20) which represent the predominant protein portion in myelin of the central nervous system. The two products are generated from the same primary transcript by alternative splicing. Defects of the PLP1 gene cause Pelizaeus-Merzbacher disease (PMD) or X-linked spastic paraplegia type 2 (SPG2). Duplication of the PLP1 gene is the most frequent gene defect, usually responsible for the classic form of PMD. To investigate the effects of PLP1 gene… CONTINUE READING
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