Linked Life Data

6100796

Source:http://linkedlifedata.com/resource/pubmed/id/6100796

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
1986-8-7
pubmed:abstractText
The known leukodystrophies are genetic diseases involving defects in oligodendroglial function and myelinogenesis. The various steps in the process of myelination and myelin maintenance are outlined beginning with gliogenesis and ending with myelin catabolism. A gene defect affecting any one of these steps has the potential to lead either to a leukodystrophy or to a more systemic disease. The shiverer mouse mutant involves deletion of the gene for basic protein, and the quaking mutant may involve defective myelin assembly. Zellweger's syndrome, a systemic human disease, has a severe deficiency of plasmalogens, which are major myelin lipids. This deficiency is presumably a consequence of absent peroxisomes, organelles that contain the essential synthetic enzymes for these lipids. The three human leukodystrophies for which metabolic lesions are known (metachromatic leukodystrophy, globoid cell leukodystrophy and adrenoleukodystrophy), however, all have deficits in the very end stage of myelinogenesis, that of catabolism of myelin lipids. Is this coincidence? Perhaps some of the undiagnosed neurological diseases of children, as well as known diseases with unknown genetic defects, involve deletions or mutations in genes controlling earlier stages of myelinogenesis.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
15 Suppl
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
28-31
pubmed:dateRevised
2008-1-16
pubmed:meshHeading
pubmed:year
1984
pubmed:articleTitle
Some thoughts on the neurobiology of the leukodystrophies.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't