https://orcid.org/0000-0002-7188-3125
References
- Vasireddy V, Wong P, Ayyagari R. Genetics and molecular pathology of Stargardt-like macular degeneration. Prog Retin Eye Res. 2010;29(3):191–207. doi:10.1016/j.preteyeres.2010.01.001.
- Puech B, De Laey JJ, Holder GE. Inherited chorioretinal dystrophies: a textbook and atlas. New York, NY: Springer; 2014. 301 p.
- Hopiavuori BR, Anderson RE, Agbaga MP. ELOVL4: very long-chain fatty acids serve an eclectic role in mammalian health and function. Prog Retin Eye Res. 2019;69:137–58. doi:10.1016/j.preteyeres.2018.10.004.
- Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, et al. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet. 2001;27(1):89–93. doi:10.1038/83817.
- Edwards AO, Donoso LA, Ritter R 3rd. A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family. Invest Ophthalmol Vis Sci. 2001;42(11):2652–63.
- Bernstein PS, Tammur J, Singh N, Hutchinson A, Dixon M, Pappas CM, Zabriskie, NA, Zhang, K, Petrukhin K, Leppert M, et al. Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene. Invest Ophthalmol Vis Sci 2001;42:3331–36.
- Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA, Rizzo WB, Alkuraya FS. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet. 2011;89(6):745–50. doi:10.1016/j.ajhg.2011.10.011.
- McMahon A, Lu H, Butovich IA. A role for ELOVL4 in the mouse meibomian gland and sebocyte cell biology. Invest Ophthalmol Vis Sci. 2014;55(5):2832–40. doi:10.1167/iovs.13-13335.
- Sassa T, Tadaki M, Kiyonari H, Kihara A. Very long-chain tear film lipids produced by fatty acid elongase ELOVL1 prevent dry eye disease in mice. FASEB J. 2018;32(6):2966–78. doi:10.1096/fj.201700947R.