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Items: 13

1.

PRCD is essential for high-fidelity photoreceptor disc formation.

Spencer WJ, Ding JD, Lewis TR, Yu C, Phan S, Pearring JN, Kim KY, Thor A, Mathew R, Kalnitsky J, Hao Y, Travis AM, Biswas SK, Lo WK, Besharse JC, Ellisman MH, Saban DR, Burns ME, Arshavsky VY.

Proc Natl Acad Sci U S A. 2019 Jun 25;116(26):13087-13096. doi: 10.1073/pnas.1906421116. Epub 2019 Jun 12.

PMID:
31189593
2.

Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration.

Pearring JN, San Agustin JT, Lobanova ES, Gabriel CJ, Lieu EC, Monis WJ, Stuck MW, Strittmatter L, Jaber SM, Arshavsky VY, Pazour GJ.

PLoS Genet. 2017 Apr 14;13(4):e1006740. doi: 10.1371/journal.pgen.1006740. eCollection 2017 Apr.

3.

Photoreceptor discs form through peripherin-dependent suppression of ciliary ectosome release.

Salinas RY, Pearring JN, Ding JD, Spencer WJ, Hao Y, Arshavsky VY.

J Cell Biol. 2017 May 1;216(5):1489-1499. doi: 10.1083/jcb.201608081. Epub 2017 Apr 5.

4.

Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants.

Ploier B, Caro LN, Morizumi T, Pandey K, Pearring JN, Goren MA, Finnemann SC, Graumann J, Arshavsky VY, Dittman JS, Ernst OP, Menon AK.

Nat Commun. 2016 Oct 3;7:12832. doi: 10.1038/ncomms12832.

5.

Progressive Rod-Cone Degeneration (PRCD) Protein Requires N-Terminal S-Acylation and Rhodopsin Binding for Photoreceptor Outer Segment Localization and Maintaining Intracellular Stability.

Spencer WJ, Pearring JN, Salinas RY, Loiselle DR, Skiba NP, Arshavsky VY.

Biochemistry. 2016 Sep 13;55(36):5028-37. doi: 10.1021/acs.biochem.6b00489. Epub 2016 Aug 30.

6.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y.

Am J Hum Genet. 2015 Dec 3;97(6):904-13. doi: 10.1016/j.ajhg.2015.11.006.

7.

Guanylate cyclase 1 relies on rhodopsin for intracellular stability and ciliary trafficking.

Pearring JN, Spencer WJ, Lieu EC, Arshavsky VY.

Elife. 2015 Nov 21;4. pii: e12058. doi: 10.7554/eLife.12058.

8.

R9AP targeting to rod outer segments is independent of rhodopsin and is guided by the SNARE homology domain.

Pearring JN, Lieu EC, Winter JR, Baker SA, Arshavsky VY.

Mol Biol Cell. 2014 Sep 1;25(17):2644-9. doi: 10.1091/mbc.E14-02-0747. Epub 2014 Jul 9.

9.

Protein sorting, targeting and trafficking in photoreceptor cells.

Pearring JN, Salinas RY, Baker SA, Arshavsky VY.

Prog Retin Eye Res. 2013 Sep;36:24-51. doi: 10.1016/j.preteyeres.2013.03.002. Epub 2013 Apr 3. Review.

10.

Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation.

Peachey NS, Pearring JN, Bojang P Jr, Hirschtritt ME, Sturgill-Short G, Ray TA, Furukawa T, Koike C, Goldberg AF, Shen Y, McCall MA, Nawy S, Nishina PM, Gregg RG.

J Neurophysiol. 2012 Nov;108(9):2442-51. doi: 10.1152/jn.00137.2012. Epub 2012 Aug 15.

11.

GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.

Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM, Bojang P Jr, Pearring JN, Simonsz HJ, van Genderen M, Birch DG, Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AF, Nishina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG.

Am J Hum Genet. 2012 Feb 10;90(2):331-9. doi: 10.1016/j.ajhg.2011.12.006.

12.

A role for nyctalopin, a small leucine-rich repeat protein, in localizing the TRP melastatin 1 channel to retinal depolarizing bipolar cell dendrites.

Pearring JN, Bojang P Jr, Shen Y, Koike C, Furukawa T, Nawy S, Gregg RG.

J Neurosci. 2011 Jul 6;31(27):10060-6. doi: 10.1523/JNEUROSCI.1014-11.2011.

13.

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.

van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M.

Am J Hum Genet. 2009 Nov;85(5):730-6. doi: 10.1016/j.ajhg.2009.10.012. Epub 2009 Nov 5.

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