Targeting microglia attenuates neuroinflammation‐related neural damage in mice carrying human PLP1 mutations
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DOI: 10.1002/glia.23539
Abstract: Genetically caused neurological disorders of the central nervous system (CNS) usually result in poor or even fatal clinical outcome and few or no causative treatments are available. Often, these disorders are associated with disease‐amplifying neuroinflammation,… read more here.
Keywords: plp1; related neural; cns; neuroinflammation related ... See more keywords
Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1
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DOI: 10.1038/s10038-019-0600-x
Abstract: Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder caused by abnormalities in the gene PLP1. Most females harboring heterozygous PLP1 abnormalities are basically asymptomatic. However, as a result of abnormal patterns of X-chromosome inactivation, it… read more here.
Keywords: plp1; single nucleotide; deletion plp1; female patient ... See more keywords
Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease
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DOI: 10.1038/s41586-020-2494-3
Abstract: Mutations in PLP1 , the gene that encodes proteolipid protein (PLP), result in failure of myelination and neurological dysfunction in the X-chromosome-linked leukodystrophy Pelizaeus–Merzbacher disease (PMD) 1 , 2 . Most PLP1 mutations, including point mutations… read more here.
Keywords: protein; pelizaeus merzbacher; plp1; proteolipid protein ... See more keywords
In Silico Structural Analysis Predicting the Pathogenicity of PLP1 Mutations in Multiple Sclerosis
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DOI: 10.3390/brainsci13010042
Abstract: The X chromosome gene PLP1 encodes myelin proteolipid protein (PLP), the most prevalent protein in the myelin sheath surrounding the central nervous system. X-linked dysmyelinating disorders such as Pelizaeus–Merzbacher disease (PMD) or spastic paraplegia type… read more here.
Keywords: plp1 mutations; pathogenicity; analysis; multiple sclerosis ... See more keywords