Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.
نویسندگان
چکیده
منابع مشابه
Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.
Myelin is a highly specialized membrane unique to the nervous system that ensheaths axons to permit the rapid saltatory conduction of impulses. The elaboration of a compact myelin sheath is disrupted in a diverse spectrum of human disorders, many of which are of unknown etiology. The X chromosome-linked human disorder Pelizaeus-Merzbacher disease is a clinically and pathologically heterogeneous...
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The terminal differentiation of postmitotic oligodendrocytes is marked by the induction of myelin-specific genes. In this report, we demonstrate that culture conditions that induce oligodendrocyte differentiation of glial progenitor cells also induce differentiation of C6 glioblastoma cells, as monitored by activated transcription of the gene encoding proteolipid protein (PLP), the major myelin...
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Pelizaeus Merzbacher disease is an X-linked dysmyelinating disorder of the CNS, resulting from mutations in the proteolipid protein (PLP) gene. An animal model for this disorder, the myelin-deficient (MD) rat, carries a point mutation in the PLP gene and exhibits a phenotype similar to the fatal, connatal disease, including extensive dysmyelination, tremors, ataxia, and death at approximately p...
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Proteolipid protein (PLP) is the major myelin membrane protein of the central nervous system. We have isolated a copy of an alternatively spliced PLP gene transcript from a mouse brain cDNA library that was screened for PLP-related sequences. The encoded 241-amino acid protein differs from PLP by an internal deletion of 35-amino acid residues (116-150) from the major hydrophilic domain. This PL...
متن کاملPelizaeus-Merzbacher disease.
Pelizaeus-Merzbacher disease (PMD) can now be defined as an X-linked recessive leukodystrophy that is caused by a mutation in the proteolipid protein (PLP) gene on chromosome Xq22. The most common mutation is gene duplication followed in frequency by missense mutations, insertions, and deletions. The clinical spectrum ranges from severe neonatal cases to relatively benign adult forms and X-link...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1989
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.86.20.8128