Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
|
pubmed:dateCreated |
1987-4-23
|
pubmed:abstractText |
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.
|
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Feb
|
pubmed:issn |
0364-5134
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
21
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
159-70
|
pubmed:dateRevised |
2006-11-15
|
pubmed:meshHeading |
pubmed-meshheading:3827224-Adolescent,
pubmed-meshheading:3827224-Brain,
pubmed-meshheading:3827224-Central Nervous System,
pubmed-meshheading:3827224-Child,
pubmed-meshheading:3827224-Diffuse Cerebral Sclerosis of Schilder,
pubmed-meshheading:3827224-Histocytochemistry,
pubmed-meshheading:3827224-Humans,
pubmed-meshheading:3827224-Immunochemistry,
pubmed-meshheading:3827224-Lipid Metabolism,
pubmed-meshheading:3827224-Male,
pubmed-meshheading:3827224-Myelin Proteins,
pubmed-meshheading:3827224-Myelin Sheath,
pubmed-meshheading:3827224-Nerve Tissue Proteins,
pubmed-meshheading:3827224-Optic Nerve,
pubmed-meshheading:3827224-Pedigree,
pubmed-meshheading:3827224-Proteolipids
|
pubmed:year |
1987
|
pubmed:articleTitle |
Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease.
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, Non-P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
|