Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes.

Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes. Adv Exp Med Biol. 2019;1190:201-216 Authors: Inoue K Abstract Pelizaeus-Merzbacher disease (PMD) represents a group of disorders known as hypomyelinating leukodystrophies, which are characterized by abnormal development and maintenance of myelin in the central nervous system. PMD is caused by different types of mutations in the proteolipid protein 1 (PLP1) gene, which encodes a major myelin membrane lipoprotein. These mutations in the PLP1 gene result in distinct cellular and molecular pathologies and a spectrum of clinical phenotypes. In this chapter, I discuss the historical aspects and current understanding of the mechanisms underlying how different PLP1 mutations disrupt the normal process of myelination and result in PMD and other disorders. PMID: 31760646 [PubMed - in process]
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research

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