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
Anti-Myelin Proteolipid Protein Peptide Monoclonal Antibodies Recognize Cell Surface Proteins on Developing Neurons and Inhibit Their Differentiation
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neuropathology and Experimental Neurology"
DOI: 10.1093/jnen/nlz058
Abstract: Abstract Using a panel of monoclonal antibodies (mAbs) to myelin proteolipid protein (PLP) peptides, we found that in addition to CNS myelin, mAbs to external face but not cytoplasmic face epitopes immunostained neurons in immature… read more here.
Keywords: monoclonal antibodies; proteolipid protein; differentiation; cell surface ... See more keywords
Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia
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DOI: 10.3390/biomedicines10071709
Abstract: Pelizaeus–Merzbacher Disease (PMD) is an inherited leukodystrophy affecting the central nervous system (CNS)—a rare disorder that especially concerns males. Its estimated prevalence is 1.45–1.9 per 100,000 individuals in the general population. Patients affected by PMD… read more here.
Keywords: spastic paraplegia; proteolipid protein; leukodystrophy; gene ... See more keywords