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

Author:

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

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Reference54 articles.

1. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci;Griesinger;Invest. Ophthalmol. Vis. Sci.,2000

2. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy;Zhang;Nat. Genet.,2001

3. Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expression;Mandal;Genomics,2004

4. Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene;Bernstein;Invest. Ophthalmol. Vis. Sci.,2001

5. A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy;Maugeri;Invest. Ophthalmol. Vis. Sci.,2004

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