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Mutation for Nonsyndromic Mental Retardation in the trans-2-Enoyl-CoA Reductase TER Gene Involved in Fatty Acid Elongation Impairs the Enzyme Activity and Stability, Leading to Change in Sphingolipid Profile

Very long-chain fatty acids (VLCFAs, chain length >C20) exist in tissues throughout the body and are synthesized by repetition of the fatty acid (FA) elongation cycle composed of four successive enzymatic reactions. In mammals, the TER gene is the only gene encoding trans-2-enoyl-CoA reductase, w...

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Bibliografske podrobnosti
Main Authors: Abe, Kensuke, Ohno, Yusuke, Sassa, Takayuki, Taguchi, Ryo, Çalışkan, Minal, Ober, Carole, Kihara, Akio
Format: Artigo
Jezik:Inglês
Izdano: American Society for Biochemistry and Molecular Biology 2013
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3868783/
https://ncbi.nlm.nih.gov/pubmed/24220030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M113.493221
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