The PLP mutants from mouse to man

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  • Neuroradiologic correlates of clinical disability and progression in the X-Linked leukodystrophy Pelizaeus-Merzbacher disease

    2013, Journal of the Neurological Sciences
    Citation Excerpt :

    PLP1 mutations can cause dysmyelination, with reduced myelin thickness and axon caliber, gliosis, demyelination with associated myelin debris and inflammation, and/or axonal damage or destruction. All of these processes, either singly or together, could cause white matter atrophy, and all have been previously described in pathological specimens or animal models of PMD [28,33–38]. Our findings are thus consistent both with the underlying genetic cause of PMD, and with its classification as a leukodystrophy [27,39,40].

  • Characterization of a PLP-overexpressing transgenic rat, a model for the connatal form of Pelizaeus-Merzbacher disease

    2011, Neurobiology of Disease
    Citation Excerpt :

    Evidence suggests that in addition to contributing to proper myelin compaction, PLP is also important for development and survival of oligodendrocytes and maintenance of myelinated axons (Griffiths et al., 1998). A greater understanding of the pathophysiology of PMD has come from the study of myelin mutants, specifically those involving the Plp1 gene (Duncan, 2005). Point mutations in the Plp1 gene have been found in a number of species and these reflect the variability in myelination defects as seen in the human disease.

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