Abstract
In order to study the biochemical mechanisms responsible for the membrane fatty acid deficiency in juvenile neuronal ceroid-lipofuscinosis, we have analyzed the reacylation pathway in isolated erythrocyte membranes in 5 patients. We studied membrane carnitine palmitoyl transferase, and developed a combined assay to study acyl-CoA synthetase and lysophospholipid acyl-CoA acyltransferase activities. There were no significant differences between control and patient membranes, suggesting that abnormalities in these 3 putative candidate enzymes are not responsible for the disease.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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1-Acylglycerophosphocholine O-Acyltransferase / blood*
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Carnitine O-Palmitoyltransferase / blood*
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Child
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Coenzyme A Ligases / blood*
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Erythrocyte Membrane / enzymology*
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Humans
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Neuronal Ceroid-Lipofuscinoses / blood*
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Neuronal Ceroid-Lipofuscinoses / enzymology
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Reference Values
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Repressor Proteins*
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Saccharomyces cerevisiae Proteins*
Substances
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Repressor Proteins
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Saccharomyces cerevisiae Proteins
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Carnitine O-Palmitoyltransferase
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1-Acylglycerophosphocholine O-Acyltransferase
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Coenzyme A Ligases
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FAA2 protein, S cerevisiae
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long-chain-fatty-acid-CoA ligase