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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2011-6-6
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pubmed:abstractText |
Fatty acid 2-hydroxylase (FA2H) is the enzyme responsible for the hydroxylation of free fatty acids prior to their incorporation into 2-hydroxylated sphingolipids, which are the major constituents of the myelin leaflet. Mutated FA2H has been associated with neurodegenerative diseases. Decreased FA2H activity was demonstrated only in vitro, but not in patient tissues. In this study we characterized the 2-hydroxylated sphingomyelin (SM) profiles in blood and fibroblasts from patients harboring a deleterious FA2H mutatation, and found that hydroxylated fatty acid sphingomyelin is present in normal amounts in patient lymphocytes, but decreased to a different extent in fibroblasts and erythrocytes.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/21599921-14168143,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21599921-14907713,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21599921-15337768,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21599921-16828308,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21599921-17093290,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21599921-17355976,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21599921-18815260,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21599921-19068277,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21599921-19763489,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21599921-20026285,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21599921-20104589,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21599921-3349071,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21599921-5010062
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1476-511X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
10
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
84
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pubmed:meshHeading |
pubmed-meshheading:21599921-Case-Control Studies,
pubmed-meshheading:21599921-Chromatography, High Pressure Liquid,
pubmed-meshheading:21599921-Erythrocytes,
pubmed-meshheading:21599921-Fatty Acids,
pubmed-meshheading:21599921-Fibroblasts,
pubmed-meshheading:21599921-Gene Expression Regulation, Enzymologic,
pubmed-meshheading:21599921-Humans,
pubmed-meshheading:21599921-Lymphocytes,
pubmed-meshheading:21599921-Mass Spectrometry,
pubmed-meshheading:21599921-Mixed Function Oxygenases,
pubmed-meshheading:21599921-Mutation,
pubmed-meshheading:21599921-RNA, Messenger,
pubmed-meshheading:21599921-Sphingomyelins
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pubmed:year |
2011
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pubmed:articleTitle |
2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase.
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pubmed:affiliation |
Department of Genetics and Metabolic Diseases and the Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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