| 1 | ELOVL4
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| Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4.
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| Yeboah GK, Lobanova ES, Brush RS, Agbaga MP.
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| J Lipid Res. Feb 6;62:100030. doi: 10.1016/j.jlr.2021.100030. Epub ahead of print. 2021
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| 2 | ELOVL4, SCA34
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| The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration.
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| Agbaga MP, Stiles MA, Brush RS, Sullivan MT, Machalinski A, Jones KL, Anderson RE, Sherry DM.
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| Mol Neurobiol. Nov;57(11):4735-4753. doi: 10.1007/s12035-020-02052-8. Epub 2020 Aug 11. 2020
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| 3 | ELOVL4, NICHD, SCA34, STGD3
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| Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations
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| Deák F, Anderson RE, Fessler JL, Sherry DM
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| Front Cell Neurosci. Sep 20;13:428. doi: 10.3389/fncel.2019.0042 2019
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| 4 | ELOVL4
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| Distribution of ELOVL4 in the Developing and Adult Mouse Brain
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| Sherry DM, Hopiavuori BR, Stiles MA, Rahman NS, Ozan KG, Deak F, Agbaga MP, Anderson RE.
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| Front Neuroanat. May 1;11:38. doi: 10.3389/fnana.2017.00038. 2017
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| 5 | ELOVL4, SCA34
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| Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.
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| Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P.
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| JAMA Neurol 71(4):470-5. doi: 10.1001/jamaneurol.2013.6337.
2014
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| 6 | ELOVL4
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| Endoplasmic reticulum microenvironment and conserved histidines govern ELOVL4 fatty acid elongase activity
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| Logan S, Agbaga MP, Chan MD, Brush RS, Anderson RE.
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| J Lipid Res. Apr;55(4):698-708. doi: 10.1194/jlr.M045443. Epub 2014 Feb 25. 2014
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| 7 | ELOVL4, STGD3
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| Essential role of ELOVL4 protein in very long chain fatty acid synthesis and retinal function.
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| Harkewicz R, Du H, Tong Z, Alkuraya H, Bedell M, Sun W, Wang X, Hsu YH, Esteve-Rudd J, Hughes G, Su Z, Zhang M, Lopes VS, Molday RS, Williams DS, Dennis EA, Zhang K.
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| J Biol Chem 287(14):11469-80. doi: 10.1074/jbc.M111.256073. Epub 2011 Dec 24.
2012
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| 8 | ELOVL4, NICHD
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| Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia.
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| Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA, Rizzo WB, Alkuraya FS.
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| Am J Hum Genet 89(6):745-50. Epub 2011 Nov 17.
2011
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| 9 | ELOVL4, STGD3
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| Hetero-oligomeric interactions of an ELOVL4 mutant protein: implications in the molecular mechanism of Stargardt-3 macular dystrophy.
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| Okuda A, Naganuma T, Ohno Y, Abe K, Yamagata M, Igarashi Y, Kihara A.
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| Mol Vis 16:2438-45.
2010
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| 10 | ELOVL4
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| Role of Elovl4 protein in the biosynthesis of docosahexaenoic acid.
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| Agbaga MP, Brush RS, Mandal MN, Elliott MH, Al-Ubaidi MR, Anderson RE.
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| Adv Exp Med Biol 664:233-42.
2010
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| 11 | ELOVL4, STGD3
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| Retinal sphingolipids and their very-long-chain fatty acid-containing species.
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| Brush RS, Tran JT, Henry KR, McClellan ME, Elliott MH, Mandal MN.
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| Invest Ophthalmol Vis Sci 51(9):4422-31. Epub 2010 Apr 14.
2010
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| 12 | ELOVL4, STGD3
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| Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids.
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| Agbaga MP, Brush RS, Mandal MN, Henry K, Elliott MH, Anderson RE.
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| Proc Natl Acad Sci U S A 105(35):12843-8. Epub 2008 Aug 26.
2008
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| 13 | ELOVL4
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| Loss of functional ELOVL4 depletes very long-chain fatty acids (>=C28) and the unique {omega}-O-acylceramides in skin leading to neonatal death.
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| Vasireddy V, Uchida Y, Salem N Jr, Kim SY, Mandal MN, Reddy GB, Bodepudi R, Alderson NL, Brown JC, Hama H, Dlugosz A, Elias PM, Holleran WM, Ayyagari R.
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| Hum Mol Genet 16(5):471-82. Epub 2007 Jan 5. 2007
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| 14 | STGD3, ELOVL4
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| A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines.
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| McMahon A, Jackson SN, Woods AS, Kedzierski W.
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| FEBS Lett 581(28):5459-63. Epub 2007 Nov 5. 2007
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| 15 | ELOVL4, STGD3
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| Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival.
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| Cameron DJ, Tong Z, Yang Z, Kaminoh J, Kamiyah S, Chen H, Zeng J, Chen Y, Luo L, Zhang K.
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| Int J Biol Sci 3(2):111-9.
2007
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| 16 | ELOVL4, ADMD, STGD3
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| Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population.
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| Seitsonen S, Lemmela S, Holopainen J, Tommila P, Ranta P, Kotamies A, Moilanen J, Palosaari T, Kaarniranta K, Meri S, Immonen I, Jarvela I.
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| Mol Vis 12:796-801. 2006
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| 17 | ELOVL4, STGD3, ADMD
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| Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation.
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| Hubbard AF, Askew EW, Singh N, Leppert M, Bernstein PS.
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| Arch Ophthalmol 124(2):257-63. 2006
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| 18 | ELOVL4,STGD3
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| Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4.
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| Grayson C, Molday RS.
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| J Biol Chem 280(37):32521-30. Epub 2005 Jul 21. 2005
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| 19 | ELOVL4,STGD3
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| Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants.
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| Karan G, Yang Z, Howes K, Zhao Y, Chen Y, Cameron DJ, Lin Y, Pearson E, Zhang K.
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| Mol Vis 11:657-64. 2005
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| 20 | ELOVL4,STGD3
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| Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes.
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| Vasireddy V, Vijayasarathy C, Huang J, Wang XF, Jablonski MM, Petty HR, Sieving PA, Ayyagari R.
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| Mol Vis 11:665-76. 2005
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| 21 | ELOVL4
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| Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein.
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| Ambasudhan R, Wang X, Jablonski MM, Thompson DA, Lagali PS, Wong PW, Sieving PA, Ayyagari R.
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| Genomics 83(4):615-25. 2004
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| 22 | ELOVL4, STGD3
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| A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.
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| Maugeri A, Meire F, Hoyng CB, Vink C, Van Regemorter N, Karan G, Yang Z, Cremers FP, Zhang K.
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| Invest Ophthalmol Vis Sci 45(12):4263-7. 2004
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| 23 | ELOVL4
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| Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.
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| Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP.
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| Mol Vis 9:49-51. 2003
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| 24 | ELOVL4, STGD3
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| A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.
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| Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K.
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| Nat Genet 27(1):89-93. 2001
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| 25 | ELOVL4
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| Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus.
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| Li Y, Marcos I, Borrego S, Yu Z, Zhang K, Antino G.
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| J Med Genet 38(7):478-80. No abstract available. 2001
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| 26 | ABCA4, CORD23, EFEMP1, ELOVL4, PRPH2
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| Molecular genetics of age-related macular degeneration.
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| Stone EM, Sheffield VC, Hageman GS.
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| Hum Mol Genet 10(20):2285-92. 2001
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| 27 | ADMD, ELOVL4, STGD3
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| Evaluation of the ELOVL4 gene in patients with age-related macular degeneration.
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| Ayyagari R, Zhang K, Hutchinson A, Yu Z, Swaroop A, Kakuk LE, Seddon JM, Bernstein PS, Lewis RA, Tammur J, Yang Z, Li Y, Zhang H, Yashar BM, Liu J, Petrukhin K, Sieving PA, Allikmets R.
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| Ophthalmic Genet 22(4):233-9. 2001
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| 28 | ELOVL4
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| A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family.
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| Edwards AO, Donoso LA, Ritter R 3rd.
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| Invest Ophthalmol Vis Sci 42(11):2652-63. 2001
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