| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | 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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| 13 | 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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| 14 | 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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| 15 | 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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| 16 | STGD3
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| Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci.
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| Griesinger IB, Sieving PA, Ayyagari R.
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| Invest Ophthalmol Vis Sci 41(1):248-55. 2000
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| 17 | STGD3
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| Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14.
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| Edwards AO, et al.
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| Am J Ophthalmol 127(4):426-35. 1999
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| 18 | IMPG1, MCDR1, PBCRA1, STGD3
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| Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).
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| Gehrig A, et al.
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| J Med Genet 35 : 641-645. 1998
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| 19 | CEBPA, STGD3
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| CCAAT/enhancer binding protein alpha is a regulatory switch sufficient for induction of granulocytic development from bipotential myeloid progenitors.
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| Radomska HS, Huettner CS, Zhang P, Cheng T, Scadden DT, Tenen DG.
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| Mol Cell Biol 18(7):4301-14. 1998
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| 20 | STGD3
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| Clinical features of a Stargardt-Like dominant progressive macular dystrophy with genetic linkage to chromosome 6q.
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| Stone EM, et al.
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| Arch Ophthalmol 112 : 765-772. 1994
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