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• W2129318052 abstract "The brain of an 18-year-old patient with Pelizaeus-Merzbacher disease was examined by standard neuropathological and biochemical methods and by immunocytochemical and immunochemical techniques. Analysis revealed a lack of myelin-specific lipids, but showed a residual immunoreactivity for myelin basic protein, myelin-associated glycoprotein, and 2',3'-cyclic nucleotide-3'-phosphodiesterase. Examination by immunocytochemistry and enzyme-linked immunosorbent assay showed an absence of proteolipid apoprotein (lipophilin). The peripheral nervous system was normal. Pelizaeus-Merzbacher disease in humans shares many neuropathological and biochemical features with X-linked mutations in animals, e.g., the jimpy mouse and myelin-deficient rat. The specificity of this protein deficiency in Pelizaeus-Merzbacher disease gains additional support from the recent mapping of the lipophilin gene to the human X chromosome." @default.
• W2129318052 created "2016-06-24" @default.
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• W2129318052 date "1987-02-01" @default.
• W2129318052 modified "2023-10-05" @default.
• W2129318052 title "Defective biosynthesis of proteolipid protein in pelizaeus-merzbacher disease" @default.
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• W2129318052 doi "https://doi.org/10.1002/ana.410210208" @default.
• W2129318052 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/3827224" @default.
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