Metabolism of Very Long-Chain Fatty Acids: Genes and Pathophysiology
Author:
Affiliation:
1. Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Kita-ku, Sapporo 060-0812, Japan
Publisher
The Korean Society of Applied Pharmacology
Subject
Drug Discovery,Pharmacology,Molecular Medicine,Biochemistry
Link
http://pdf.medrang.co.kr/BT2/2014/022/bt22-2-0083.pdf
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1. 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
2. Retinal very long-chain PUFAs: new insights from studies on ELOVL4 protein
3. The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation
4. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
5. Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia
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