Loss of functional ELOVL4 depletes very long-chain fatty acids (≥C28) and the unique ω-O-acylceramides in skin leading to neonatal death

Mutations in Elongation of very long-chain fatty acid-4 (ELOVL4) are associated with autosomal dominant Stargardt-like macular degeneration (STGD3), with a five base-pair (5-bp) deletion mutation resulting in the loss of 51 carboxy-terminal amino acids and truncation of the protein. In addition to t...

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Main Authors: Vasireddy, Vidyullatha, Uchida, Yoshikazu, Salem, Norman, Kim, Soo Yeon, Mandal, Md Nawajesh Ali, Reddy, Geereddy Bhanuprakash, Bodepudi, Ravi, Alderson, Nathan L., Brown, Johnie C., Hama, Hiroko, Dlugosz, Andrzej, Elias, Peter M., Holleran, Walter M., Ayyagari, Radha
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1839956/
https://ncbi.nlm.nih.gov/pubmed/17208947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddl480
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