My Bibliography

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Abdel-Salam GMH, Hellmuth S, Gradhand E, Käseberg S, Winter J, Pabst AS, Eid MM, Thiele H, Nürnberg P, Budde BS, Toliat MR, Brecht IB, Schroeder C, Gschwind A, Ossowski S, Häuser F, Rossmann H, Abdel-Hamid MS, Hegazy I, Mohamed AG, Schneider DT, Bertoli-Avella A, Bauer P, Pearring JN, Pfundt R, Hoischen A, Gilissen C, Strand D, Zechner U, Tashkandi SA, Faqeih EA, Stemmann O, Strand S, Bolz HJ. Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors. JCI Insight. 2023 Nov 22;8(22). doi: 10.1172/jci.insight.170079. PubMed PMID: 37796616; PubMed Central PMCID: PMC10721328.

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Truong HM, Cruz-Colón KO, Martínez-Márquez JY, Willer JR, Travis AM, Biswas SK, Lo WK, Bolz HJ, Pearring JN. The tectonic complex regulates membrane protein composition in the photoreceptor cilium. Nat Commun. 2023 Sep 13;14(1):5671. doi: 10.1038/s41467-023-41450-z. PubMed PMID: 37704658; PubMed Central PMCID: PMC10500017.

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Thorson MT, Wei SE, Johnson C, Gabriel CJ, Arshavsky VY, Pearring JN. Nrl:CreERT2 mouse model to induce mosaic gene expression in rod photoreceptors. Front Mol Neurosci. 2023;16:1161127. doi: 10.3389/fnmol.2023.1161127. eCollection 2023. PubMed PMID: 37181654; PubMed Central PMCID: PMC10166802.

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Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Rey AD, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. J Clin Invest. 2023 Apr 17;133(8). doi: 10.1172/JCI161156. PubMed PMID: 36862503; PubMed Central PMCID: PMC10104899.

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Hotta T, Plemmons A, Gebbie M, Ziehm TA, Blasius TL, Johnson C, Verhey KJ, Pearring JN, Ohi R. Mechanistic Analysis of CCP1 in Generating ΔC2 α-Tubulin in Mammalian Cells and Photoreceptor Neurons. Biomolecules. 2023 Feb 12;13(2). doi: 10.3390/biom13020357. PubMed PMID: 36830726; PubMed Central PMCID: PMC9952995.

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Travis AM, Manocha S, Willer JR, Wessler TS, Skiba NP, Pearring JN. Disrupting the ciliary gradient of active Arl3 affects rod photoreceptor nuclear migration. Elife. 2023 Jan 4;12. doi: 10.7554/eLife.80533. PubMed PMID: 36598133; PubMed Central PMCID: PMC9831603.

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Travis AM, Pearring JN. Human Mutations in Arl3, a Small GTPase Involved in Lipidated Cargo Delivery to the Cilia, Cause Retinal Dystrophy. Adv Exp Med Biol. 2023;1415:283-288. doi: 10.1007/978-3-031-27681-1_41. PubMed PMID: 37440046.

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Pearring JN, Martínez-Márquez J, Willer JR, Lieu EC, Salinas RY, Arshavsky VY. The GARP Domain of the Rod CNG Channel's β1-Subunit Contains Distinct Sites for Outer Segment Targeting and Connecting to the Photoreceptor Disk Rim. J Neurosci. 2021 Apr 7;41(14):3094-3104. doi: 10.1523/JNEUROSCI.2609-20.2021. Epub 2021 Feb 26. PubMed PMID: 33637563; PubMed Central PMCID: PMC8026354.

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Spencer WJ, Lewis TR, Pearring JN, Arshavsky VY. Photoreceptor Discs: Built Like Ectosomes. Trends Cell Biol. 2020 Nov;30(11):904-915. doi: 10.1016/j.tcb.2020.08.005. Epub 2020 Sep 6. Review. PubMed PMID: 32900570; PubMed Central PMCID: PMC7584774.

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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. PRCD is essential for high-fidelity photoreceptor disc formation. Proc Natl Acad Sci U S A. 2019 Jun 25;116(26):13087-13096. doi: 10.1073/pnas.1906421116. Epub 2019 Jun 12. PubMed PMID: 31189593; PubMed Central PMCID: PMC6601265.

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Salinas RY, Pearring JN, Ding JD, Spencer WJ, Hao Y, Arshavsky VY. Photoreceptor discs form through peripherin-dependent suppression of ciliary ectosome release. J Cell Biol. 2017 May 1;216(5):1489-1499. doi: 10.1083/jcb.201608081. Epub 2017 Apr 5. PubMed PMID: 28381413; PubMed Central PMCID: PMC5412563.

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Pearring JN, San Agustin JT, Lobanova ES, Gabriel CJ, Lieu EC, Monis WJ, Stuck MW, Strittmatter L, Jaber SM, Arshavsky VY, Pazour GJ. Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration. PLoS Genet. 2017 Apr;13(4):e1006740. doi: 10.1371/journal.pgen.1006740. eCollection 2017 Apr. PubMed PMID: 28410364; PubMed Central PMCID: PMC5409180.

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Ploier B, Caro LN, Morizumi T, Pandey K, Pearring JN, Goren MA, Finnemann SC, Graumann J, Arshavsky VY, Dittman JS, Ernst OP, Menon AK. Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants. Nat Commun. 2016 Oct 3;7:12832. doi: 10.1038/ncomms12832. PubMed PMID: 27694816; PubMed Central PMCID: PMC5059438.

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Spencer WJ, Pearring JN, Salinas RY, Loiselle DR, Skiba NP, Arshavsky VY. Progressive Rod-Cone Degeneration (PRCD) Protein Requires N-Terminal S-Acylation and Rhodopsin Binding for Photoreceptor Outer Segment Localization and Maintaining Intracellular Stability. Biochemistry. 2016 Sep 13;55(36):5028-37. doi: 10.1021/acs.biochem.6b00489. Epub 2016 Aug 30. PubMed PMID: 27509380; PubMed Central PMCID: PMC5513659.

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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. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 3;97(6):904-13. doi: 10.1016/j.ajhg.2015.11.006. PubMed PMID: 26637980; PubMed Central PMCID: PMC4678788.

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Pearring JN, Spencer WJ, Lieu EC, Arshavsky VY. Guanylate cyclase 1 relies on rhodopsin for intracellular stability and ciliary trafficking. Elife. 2015 Nov 21;4. doi: 10.7554/eLife.12058. PubMed PMID: 26590321; PubMed Central PMCID: PMC4709261.

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Pearring JN, Lieu EC, Winter JR, Baker SA, Arshavsky VY. R9AP targeting to rod outer segments is independent of rhodopsin and is guided by the SNARE homology domain. Mol Biol Cell. 2014 Sep 1;25(17):2644-9. doi: 10.1091/mbc.E14-02-0747. Epub 2014 Jul 9. PubMed PMID: 25009288; PubMed Central PMCID: PMC4148253.

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Pearring JN, Salinas RY, Baker SA, Arshavsky VY. Protein sorting, targeting and trafficking in photoreceptor cells. Prog Retin Eye Res. 2013 Sep;36:24-51. doi: 10.1016/j.preteyeres.2013.03.002. Epub 2013 Apr 3. Review. PubMed PMID: 23562855; PubMed Central PMCID: PMC3759535.

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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. Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation. J Neurophysiol. 2012 Nov;108(9):2442-51. doi: 10.1152/jn.00137.2012. Epub 2012 Aug 15. PubMed PMID: 22896717; PubMed Central PMCID: PMC3545183.

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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. GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):331-9. doi: 10.1016/j.ajhg.2011.12.006. PubMed PMID: 22325362; PubMed Central PMCID: PMC3276656.

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Pearring JN, Bojang P Jr, Shen Y, Koike C, Furukawa T, Nawy S, Gregg RG. A role for nyctalopin, a small leucine-rich repeat protein, in localizing the TRP melastatin 1 channel to retinal depolarizing bipolar cell dendrites. J Neurosci. 2011 Jul 6;31(27):10060-6. doi: 10.1523/JNEUROSCI.1014-11.2011. PubMed PMID: 21734298; PubMed Central PMCID: PMC3139999.

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van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet. 2009 Nov;85(5):730-6. doi: 10.1016/j.ajhg.2009.10.012. Epub 2009 Nov 5. PubMed PMID: 19896109; PubMed Central PMCID: PMC2775826.