Source:http://linkedlifedata.com/resource/pubmed/id/11735377
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
2001-12-13
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pubmed:abstractText |
Genetic defects affecting the mitochondrial respiratory chain comprise an important cause of encephalomyopathies. Considering the structural complexity of the respiratory chain, its dual genetic control, and the numerous nuclear genes required for proper assembly of the enzyme complexes, the phenotypic heterogeneity is not surprising. From a neuropathological view point, application of in situ hybridization and immunohistochemistry to study the choroid plexus and brain-blood barrier in "prototypes" of mitochondrial encephalopathies have revealed alterations that we think are important in the pathogenesis of central nervous system dysfunction in these disorders. As the role of the blood-cerebrospinal fluid (CSF) and brain-blood barriers in mitochondrial encephalopathies is better understood, manipulation of their functions offers promises for therapeutic interventions.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1084-9521
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pubmed:author | |
pubmed:copyrightInfo |
Copyright 2001 Academic Press.
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pubmed:issnType |
Print
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pubmed:volume |
12
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
429-39
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:11735377-Blood-Brain Barrier,
pubmed-meshheading:11735377-Child,
pubmed-meshheading:11735377-Humans,
pubmed-meshheading:11735377-Infant,
pubmed-meshheading:11735377-Kearns-Sayre Syndrome,
pubmed-meshheading:11735377-Leigh Disease,
pubmed-meshheading:11735377-MELAS Syndrome,
pubmed-meshheading:11735377-MERRF Syndrome,
pubmed-meshheading:11735377-Mitochondrial Diseases,
pubmed-meshheading:11735377-Mitochondrial Encephalomyopathies,
pubmed-meshheading:11735377-Neurons
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pubmed:year |
2001
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pubmed:articleTitle |
Neuropathological features of mitochondrial disorders.
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pubmed:affiliation |
Department of Neurology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Review
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