Citations for
1CSNB, CSNB8, GRK1, SAG
Oguchi type I caused by a homozygous missense variation in the SAG gene.
Colombo L, Abeshi A, Maltese PE, Frecer V, Miertuš J, Cerra D, Bertelli M, Rossetti L.
Eur J Med Genet ur J Med Genet. 2018 Sep 27. pii: S1769-7212(18)30300-8. doi: 10.1016/j.ejmg.2018.09.015. [Epub ahead of print] 2018
2RP47, SAG
Molecular Defects of the Disease-Causing Human Arrestin-1 C147F Mutant.
Vishnivetskiy SA, Sullivan LS, Bowne SJ, Daiger SP, Gurevich EV, Gurevich VV.
Invest Ophthalmol Vis Sci. Jan 1;59(1):13-20. doi: 10.1167/iovs.17-22180 2018
3RP47, SAG
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.
Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, Xu M, Li Y, Birch DG, Daiger SP.
Invest Ophthalmol Vis Sci. May 1;58(5):2774-2784. doi: 10.1167/iovs.16-2134 2017
4SAG
Functional role of the three conserved cysteines in the N domain of visual arrestin-1. 2017 PMID:
Vishnivetskiy SA, Lee RJ, Zhou XE, Franz A, Xu Q, Xu HE, Gurevich VV.
J Biol Chem. Jul 28;292(30):12496-12502. doi: 10.1074/jbc.M117.790386. Epub 2017 May 23. 2017
5SAG
The physiological roles of arrestin-1 in rod photoreceptor cells.
Chen J.
Handb Exp Pharmacol. ;219:85-99. doi: 10.1007/978-3-642-41199-1_4. 2014
6SAG
Engineering visual arrestin-1 with special functional characteristics.
Vishnivetskiy SA, Chen Q, Palazzo MC, Brooks EK, Altenbach C, Iverson TM, Hubbell WL, Gurevich VV.
J Biol Chem. Feb 1;288(5):3394-405. doi: 10.1074/jbc.M112.445437. Epub 2012 Dec 17. 2013
7RHO, SAG
Rapid degeneration of rod photoreceptors expressing self-association-deficient arrestin-1 mutant.
Song X, Seo J, Baameur F, Vishnivetskiy SA, Chen Q, Kook S, Kim M, Brooks EK, Altenbach C, Hong Y, Hanson SM, Palazzo MC, Chen J, Hubbell WL, Gurevich EV, Gurevich VV.
Cell Signal. Dec;25(12):2613-24. doi: 10.1016/j.cellsig.2013.08.022. Epub 2013 Sep 3. 2013
8SAG
Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene.
Sergouniotis PI, Davidson AE, Sehmi K, Webster AR, Robson AG, Moore AT.
Eye (Lond). 25(8):1098-101. 2011
9SAG
Robust self-association is a common feature of mammalian visual arrestin-1.
Kim M, Hanson SM, Vishnivetskiy SA, Song X, Cleghorn WM, Hubbell WL, Gurevich VV.
Biochemistry Mar 29;50(12):2235-42. doi: 10.1021/bi1018607. Epub 2011 Feb 18. 2011
10SAG
Visual Arrestin 1 contributes to cone photoreceptor survival and light adaptation.
Brown BM, Ramirez T, Rife L, Craft CM.
Invest Ophthalmol Vis Sci. 51(5):2372-80. 2010
11SAG
Structure and function of the visual arrestin oligomer.
Hanson SM, Van Eps N, Francis DJ, Altenbach C, Vishnivetskiy SA, Arshavsky VY, Klug CS, Hubbell WL, Gurevich VV.
EMBO J 26(6):1726-36. Epub 2007 Mar 1. 2007
12CXCR3, CXCR5, RBP3, SAG
Autoantigens signal through chemokine receptors: uveitis antigens induce CXCR3- and CXCR5-expressing lymphocytes and immature dendritic cells to migrate.
Howard OM, Dong HF, Su SB, Caspi RR, Chen X, Plotz P, Oppenheim JJ.
Blood 105(11):4207-14. Epub 2005 Feb 15. 2005
13RHO, SAG
Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes.
Chuang JZ, Vega C, Jun W, Sung CH.
J Clin Invest 114(1):131-40. 2004
14CSNB, CSNB4, SAG
Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease.
.Saga M, Mashima Y, Kudoh J, Oguchi Y, Shimizu N
Jpn J Ophthalmol. 48 :350-2 2004
15SAG
Acidic amino acids flanking phosphorylation sites in the M2 muscarinic receptor regulate receptor phosphorylation, internalization, and interaction with arrestins.
Lee KB, Ptasienski JA, Bunemann M, Hosey MM.
J Biol Chem. 275(46):35767-77. 2000
16CSNB, SAG
Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness)
Chen J, Simon MI, Matthes MT, Yasumura D, LaVail MM.
Invest Ophthalmol Vis Sci. 40(12):2978-82. 1999
17CSNB4, SAG
Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene.
Nakamachi Y, et al.
Am J Ophthalmol 125(2):249-51. 1998
18CSNB, CSNB4, SAG
Arrestin gene mutations in autosomal recessive retinitis pigmentosa.
Nakazawa M, et al.
Arch Ophthalmol 116 : 498-501. 1998
19ARRB1, ARRB2, ARR3, SAG
The role of receptor kinases and arrestins in G protein-coupled receptor regulation.
Krupnick JG, et al.
Annu Rev Pharmacol Toxicol 38 : 289-319. 1998
20CSNB, CSNB4, SAG
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.
Fuchs S, et al.
Nat Genet 10 : 360-362. 1995
21SAG
Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172.
Valverde D, et al.
Hum Genet 94 : 193-194. 1994
22SAG, ADRBK2, ARRB2
Chromosome mapping of the human arrestin (SAG), beta-arrestin 2 (ARRB2), and beta-adrenergic receptor kinase 2 (ADRBK2) genes.
Calabrese G, et al.
Genomics 23 : 286-288. 1994
23SAG
Phosphorylated rhodopsin and heparin induce similar conformational changes in arrestin.
Palczewski K, Pulvermüller A, Buczyłko J, Hofmann KP.
J Biol Chem. 266(28):18649-54. 1991
24SAG
Assignment of the S-antigen gene (SAG) to human chromosome 2q24-q37.
Ngo JT, et al.
Genomics 7 : 84-87. 1990
25SAG
Ca2+ binding capacity of cytoplasmic proteins from rod photoreceptors is mainly due to arrestin.
Huppertz B, et al.
J Biol Chem 265 : 9470-9475. 1990
26SAG
Structural organization of the human S-antigen gene. cDNA, amino acid, intron, exon, promoter, in vitro transcription, retina, and pineal gland.
Yamaki K, Tsuda M, Kikuchi T, Chen KH, Huang KP, Shinohara T.
J Biol Chem. 265(34):20757-62. 1990