Silencing of the CHM Gene Alters Phagocytic and Secretory Pathways in the Retinal Pigment Epithelium
Open accessAbstract
PURPOSE: Choroideremia (CHM) is an X-linked progressive degeneration of the retinal pigment epithelium (RPE), photoreceptors, and choroid caused by mutations in the CHM gene, which encodes Rab escort-protein-1 (REP-1). REP-1 enables posttranslational isoprenyl modification of Rab GTPases, proteins that control vesicle formation, movement, docking, and fusion. The aim of this study was to determine the effect of REP-1 depletion on vesicular trafficking in phagocytic and secretory pathways of human RPE. METHODS: In vitro, REP-1 expression was inhibited in human fetal RPE (hfRPE) cells by siRNA knockdown and its effects measured on the uptake of bovine photoreceptor outer segments (POS), proteolysis of POS rhodopsin, phagosomal pH, phagosome fusion with early and late endosomes/lysosomes, and polarized secretion of cytokines. RESULTS: Depletion of REP-1 in human RPE cells did not affect POS internalization but reduced phagosomal acidification and delayed POS protein clearance. REP-1 depletion also caused a decrease in the association of POS-containing phagosomes with late endosomal markers (Rab7, LAMP-1) and increases in the secretion of monocyte chemotactic protein (MCP-1) and interleukin (IL)-8 by hfRPE cells. CONCLUSIONS: Lack of REP-1 protein expression in hfRPE cells leads to reduced degradation of POS most likely because of the inhibition of phagosome-lysosome fusion events and increased constitutive secretion of MCP-1 and IL-8. These observations may explain the accumulation of unprocessed outer segments within the phagolysosomes of RPE cells and the presence of inflammatory cells in the choroid of patients with CHM.
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Human iPSC-derived RPE cells from choroideremia patients, and human fetal primary RPE cells treated with REP1 siRNA, both demonstrate delayed OS phagosome clearance.
“Moreover, human iPSC-derived RPE cells from choroideremia patients (Duong et al., 2018), and human fetal primary RPE cells, treated with REP1 siRNA (Gordiyenko et al., 2010), both demonstrate delayed OS phagosome clearance.”
From The cell biology of the retinal pigment epithelium (2020) · cites this paper as Gordiyenko et al., 2010
Phagosomal RAB7 and subsequent LAMP1 acquisition were compromised in cells treated with REP1 siRNA, leading to fewer fusion events with lysosomes, which, coupled with defects in phagosomal acidification, resulted in slower phagosome clearance.
“Phagosomal RAB7 and subsequent LAMP1 acquisition were compromised in the cells treated with REP1 siRNA, thereby leading to fewer fusion events with lysosomes, which, coupled with defects in phagosomal acidification, resulted in slower phagosome clearance (Gordiyenko et al., 2010).”
From The cell biology of the retinal pigment epithelium (2020) · cites this paper as Gordiyenko et al., 2010
In normal RPE cells, POS are contained in single membrane phagosomes.
“In normal RPE cells POS were contained in single membrane phagosomes as reported (Bosch et al., 1993; Gordiyenko et al., 2010; Strauss, 2005).”
From Noncanonical autophagy promotes the visual cycle (2013) · cites this paper as Gordiyenko et al., 2010
Decreased expression of REP1 in the RPE inhibits POS phagosome degradation.
“Decreased expression of REP1 in the RPE has been shown to inhibit POS phagosome degradation (Krock et al., 2007; Gordiyenko et al., 2010).”
From Microtubule motors transport phagosomes in the RPE, and lack of KLC1 leads to AMD-like pathogenesis (2015) · cites this paper as Gordiyenko et al., 2010
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A guided tour into subcellular colocalization analysis in light microscopy
Bolte, S., & Cordelières, F. (2006) · Journal of Microscopy · doi:10.1111/j.1365-2818.2006.01706.x · Cited by 5,238 · see citing works
Rab proteins as membrane organizers
Zerial, M., & McBride, H. (2001) · Nature Reviews Molecular Cell Biology · doi:10.1038/35052055 · Cited by 3,381 · see citing works
Effects of cytochalasin and phalloidin on actin.
Cooper, J. A. (1987) · The Journal of cell biology · doi:10.1083/jcb.105.4.1473 · Cited by 2,009 · see citing works
Savina, A., Jancic, C. C., Hugues, S., Guermonprez, P., Vargas, P., Moura, I. C., Lennon‐Duménil, A., Seabra, M. C., Raposo, G., & Amigorena, S. (2006) · Cell · doi:10.1016/j.cell.2006.05.035 · Cited by 896 · see citing works
Manders, E. M. M., Stap, J., Brakenhoff, G. J., DRIEL, R. V., & Aten, J. A. (1992) · Journal of Cell Science · doi:10.1242/jcs.103.3.857 · Cited by 739 · see citing works
Phagosome maturation: aging gracefully
Vieira, O. V., Botelho, R. J., & Grinstein, S. (2002) · Biochemical Journal · doi:10.1042/bj20020691 · Cited by 675 · see citing works
Phagosome maturation: going through the acid test
Kinchen, J. M., & Ravichandran, K. S. (2008) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2515 · Cited by 555 · see citing works
Harrison, R. E., Bucci, C., Vieira, O. V., Schroer, T. A., & Grinstein, S. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.18.6494-6506.2003 · Cited by 480 · see citing works
Rab GTPases, intracellular traffic and disease
Seabra, M. C., Mules, E. H., & Hume, A. N. (2002) · Trends in Molecular Medicine · doi:10.1016/s1471-4914(01)02227-4 · Cited by 468 · see citing works
Rab GTPases coordinate endocytosis
Rodman, J. S., & Wandinger‐Ness, A. (2000) · Journal of Cell Science · doi:10.1242/jcs.113.2.183 · Cited by 450 · see citing works
Maminishkis, A., Chen, S., Jalickee, S., Banzon, T., Shi, G., Wang, F. E., Ehalt, T., Hammer, J. A., & Miller, S. S. (2006) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.05-1622 · Cited by 401 · see citing works
Finnemann, S. C., Bonilha, V. L., Marmorstein, A. D., & Rodriguez-Boulan, E. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.24.12932 · Cited by 382 · see citing works
Membrane traffic in the secretory pathway
Fukuda, M. (2008) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-008-8351-4 · Cited by 359 · see citing works
Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase
Seabra, M. C., Brown, M. S., & Goldstein, J. L. (1993) · Science · doi:10.1126/science.8380507 · Cited by 337 · see citing works
Rab GTPases: master regulators of membrane trafficking
Pfeffer, S. R. (1994) · Current Opinion in Cell Biology · doi:10.1016/0955-0674(94)90071-x · Cited by 330 · see citing works
Holtkamp, G. M., Kijlstra, A., Peek, R., & de Vos, A. F. (2001) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(00)00017-3 · Cited by 254 · see citing works
Alexandrov, K. A., Horiuchi, H., Steele‐Mortimer, O., Seabra, M. C., & Zerial, M. (1994) · The EMBO Journal · doi:10.1002/j.1460-2075.1994.tb06860.x · Cited by 240 · see citing works
Deficient geranylgeranylation of Ram/Rab27 in choroideremia
Seabra, M. C., Ho, Y. K., & Anant, J. S. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.41.24420 · Cited by 223 · see citing works
Cytokine secretion in macrophages and other cells: Pathways and mediators
Stow, J. L., Low, P. C., Offenhäuser, C., & Sangermani, D. (2009) · Immunobiology · doi:10.1016/j.imbio.2008.11.005 · Cited by 205 · see citing works
Lysosomal Enzyme Trafficking between Phagosomes, Endosomes, and Lysosomes in J774 Macrophages
Claus, V., Jahraus, A., Tjelle, T. E., Berg, T., Kirschke, H., Faulstich, H., & Griffiths, G. W. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.16.9842 · Cited by 205 · see citing works
Duclos, S., Diez, R., Garin, J., Papadopoulou, B., Descoteaux, A., Stenmark, H., & Desjardins, M. (2000) · Journal of Cell Science · doi:10.1242/jcs.113.19.3531 · Cited by 175 · see citing works
Understanding exocytosis in immune and inflammatory cells: The molecular basis of mediator secretion
Logan, M. R., Odemuyiwa, S. O., & Moqbel, R. (2003) · Journal of Allergy and Clinical Immunology · doi:10.1016/s0091-6749(03)80114-8 · Cited by 155 · see citing works
Epithelial phenotype and the RPE: Is the answer blowing in the Wnt?
Burke, J. M. (2008) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2008.08.002 · Cited by 124 · see citing works
The Roles of Rab27 and Its Effectors in the Regulated Secretory Pathways
Izumi, T., Gomi, H., Kasai, K., Mizutani, S., & Torii, S. (2003) · Cell Structure and Function · doi:10.1247/csf.28.465 · Cited by 116 · see citing works
Choroideremia: New Findings from Ocular Pathology and Review of Recent Literature
MacDonald, I. M., Russell, L., & Chan, C. (2009) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2009.02.008 · Cited by 115 · see citing works
Self-citationKjeken, R., Egeberg, M., Habermann, A., Kühnel, M., Peyron, P., Floetenmeyer, M., Walther, P., Jahraus, A., Defacque, H., Kuznetsov, S. A., et al. (2003) · Molecular Biology of the Cell · doi:10.1091/mbc.e03-05-0334 · Cited by 108 · see citing works
Organization of the Rab‐GDI/CHM Superfamily: The Functional Basis for Choroideremia Disease
Alory, C., & Balch, W. E. (2001) · Traffic · doi:10.1034/j.1600-0854.2001.20803.x · Cited by 106 · see citing works
Control of Chemokine Gradients by the Retinal Pigment Epithelium
Shi, G., Maminishkis, A., Banzon, T., Jalickee, S., Li, R., Hammer, J., & Miller, S. S. (2008) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.08-1816 · Cited by 102 · see citing works
Multiple aspects of Rab protein action in the secretory pathway: Focus on Rab3 and Rab6
Darchen, F. (2000) · Biochimie · doi:10.1016/s0300-9084(00)00219-4 · Cited by 95 · see citing works
A practical diagnostic test for choroideremia
MacDonald, I. M. (1998) · Ophthalmology · doi:10.1016/s0161-6420(98)99031-5 · Cited by 82 · see citing works
Self-citationMultiple Factors Contribute to Inefficient Prenylation of Rab27a in Rab Prenylation Diseases
Larijani, B., Hume, A. N., Tarafder, A. K., & Seabra, M. C. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m307799200 · Cited by 79 · see citing works
Noncell-autonomous photoreceptor degeneration in a zebrafish model of choroideremia
Krock, B. L., Bilotta, J., & Perkins, B. D. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0605818104 · Cited by 79 · see citing works
Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview
Preising, M. N., & Ayuso, C. (2004) · Ophthalmic Genetics · doi:10.1080/13816810490514333 · Cited by 76 · see citing works
Øynebråten, I., Barois, N., Hagelsteen, K., Johansen, F., Bakke, O., & Haraldsen, G. (2005) · The Journal of Immunology · doi:10.4049/jimmunol.175.8.5358 · Cited by 66 · see citing works
The functional effect of pathogenic mutations in Rab escort protein 1
Sergeev, Y. V., Smaoui, N., Sui, R., Stiles, D., Gordiyenko, N. V., Strunnikova, N., & MacDonald, I. M. (2009) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2009.02.015 · Cited by 60 · see citing works
Self-citationMacDonald, I. M., Sereda, C., McTaggart, K. E., & Mah, D. (2004) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.4.4.478 · Cited by 59 · see citing works
Self-citationChoroideremia: a clinical, electron microscopic, and biochemical report.
Rodrigues, M. M., Ballintine, E. J., Wiggert, B. O., Lee, L., Fletcher, R. T., & Chader, G. J. (1984) · PubMed · Cited by 58 · see citing works
Acidification of phagosomes and degradation of rod outer segments in rat retinal pigment epithelium.
Deguchi, J., Yamamoto, A., Yoshimori, T., Sugasawa, K., Moriyama, Y., Futai, M., Suzuki, T., Kato, K., Uyama, M., & Tashiro, Y. (1994) · PubMed · Cited by 57 · see citing works
Choroideremia: Analysis of the Retina from a Female Symptomatic Carrier
Bonilha, V. L., Trzupek, K. M., Li, Y., Francis, P. J., Hollyfield, J. G., Rayborn, M. E., Smaoui, N., & Weleber, R. G. (2008) · Ophthalmic Genetics · doi:10.1080/13816810802206499 · Cited by 52 · see citing works
Hoppe, G., O'Neil, J., Hoff, H., & Sears, J. E. (2004) · Cellular and Molecular Life Sciences (CMLS) · doi:10.1007/s00018-004-4080-5 · Cited by 42 · see citing works
Phagosomal acidification: measurement, manipulation and functional consequences
Steinberg, B. E., Huynh, K. K., & Grinstein, S. (2007) · Biochemical Society Transactions · doi:10.1042/bst0351083 · Cited by 41 · see citing works
Clinical findings in a carrier of a new mutation in the choroideremia gene
Potter, M. J., Wong, E. H. C., Szabo, S. M., & McTaggart, K. E. (2004) · Ophthalmology · doi:10.1016/j.ophtha.2004.04.028 · Cited by 34 · see citing works
Choroideremia associated with subretinal neovascular membrane
Endo, K., Yuzawa, M., & Ohba, N. (2000) · Acta Ophthalmologica Scandinavica · doi:10.1034/j.1600-0420.2000.078004483.x · Cited by 33 · see citing works
CHOROIDEREMIA ASSOCIATED WITH A SUBRETINAL NEOVASCULAR MEMBRANE
Robinson, D., & Tiedeman, J. S. (1987) · Retina · doi:10.1097/00006982-198700720-00002 · Cited by 25 · see citing works
INTRARETINAL FOVEAL NEOVASCULARIZATION IN CHOROIDEREMIA
Sawa, M., Tamaki, Y., Klancnik, J. M., & Yannuzzi, L. A. (2006) · Retina · doi:10.1097/00006982-200605000-00016 · Cited by 23 · see citing works
Histopathology of the retinal pigment epithelium of a female carrier of choroideremia.
MacDonald, I. M., Mh, C., Dj, A., Bw, M., & Nj, N. (1997) · PubMed · Cited by 23 · see citing works
Self-citationUnderstanding exocytosis in immune and inflammatory cells: The molecular basis of mediator secretion
Logan, M. R. (2003) · Journal of Allergy and Clinical Immunology · doi:10.1067/mai.2003.1573 · Cited by 14 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- Fukuda M. Regulation of secretory vesicle traffic by Rab small GTPases. Cell Mol Life Sci. 2008;65:2801-2813.
Cited by
Sorted by citations
The cell biology of the retinal pigment epithelium
Lakkaraju, A., Umapathy, A., Tan, L. X., Daniele, L., Philp, N. J., Boesze-Battaglia, K., & Williams, D. S. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2020.100846 · Cited by 422 · see citing works
Noncanonical autophagy promotes the visual cycle
Kim, J.-Y., Zhao, H., Martinez, J., Doggett, T. A., Kolesnikov, A. V., Tang, P. H., Ablonczy, Z., Chan, C.-C., Zhou, Z., Green, D. R., et al. (2013) · Cell · doi:10.1016/j.cell.2013.06.012 · Cited by 347 · see citing works
A comprehensive review of retinal gene therapy
Boye, S. E., Boye, S. L., Lewin, A. S., & Hauswirth, W. W. (2013) · Molecular Therapy · doi:10.1038/mt.2012.280 · Cited by 262 · see citing works
Phagocytosis by the Retinal Pigment Epithelium: Recognition, Resolution, Recycling
Kwon, W., & Freeman, S. A. (2020) · Frontiers in Immunology · doi:10.3389/fimmu.2020.604205 · Cited by 157 · see citing works
Rab GTPases implicated in inherited and acquired disorders
Mitra, S., Cheng, K. W., & Mills, G. (2010) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2010.12.005 · Cited by 107 · see citing works
Treatment of ocular disorders by gene therapy
Solinís, M. Á., del Pozo-Rodríguez, A., Apaolaza, P. S., & Rodríguez-Gascón, A. (2015) · European Journal of Pharmaceutics and Biopharmaceutics · doi:10.1016/j.ejpb.2014.12.022 · Cited by 88 · see citing works
Microtubule motors transport phagosomes in the RPE, and lack of KLC1 leads to AMD-like pathogenesis
Jiang, M., Esteve-Rudd, J., Lopes, V. S., Diemer, T., Lillo, C., Rump, A., & Williams, D. S. (2015) · Journal of Cell Biology · doi:10.1083/jcb.201410112 · Cited by 85 · see citing works
Toops, K. A., Tan, L. X., & Lakkaraju, A. (2014) · Experimental Eye Research · doi:10.1016/j.exer.2014.05.003 · Cited by 73 · see citing works
Muniz-Feliciano, L., Doggett, T. A., Zhou, Z., & Ferguson, T. A. (2017) · Autophagy · doi:10.1080/15548627.2017.1380124 · Cited by 73 · see citing works
Murad, N., Kokkinaki, M., Gunawardena, N., Gunawan, M. S., Hathout, Y., Janczura, K. J., Theos, A. C., & Golestaneh, N. (2014) · The FEBS Journal · doi:10.1111/febs.13066 · Cited by 73 · see citing works
Zigler, J. S., Zhang, C., Grebe, R. R., Sehrawat, G., Hackler, L., Adhya, S., Hose, S., McLeod, D. S., Bhutto, I. A., Barbour, W., et al. (2011) · Journal of Cell Science · doi:10.1242/jcs.078790 · Cited by 69 · see citing works
Wavre-Shapton, S. T., Tolmachova, T., da Silva, M. L., Futter, C. E., & Seabra, M. C. (2013) · PLoS ONE · doi:10.1371/journal.pone.0057769 · Cited by 67 · see citing works
Rab GTPase Prenylation Hierarchy and Its Potential Role in Choroideremia Disease
Köhnke, M., Delon, C., Hastie, M. L., Nguyen, U. T. T., Wu, Y., Waldmann, H., Goody, R. S., Gorman, J. J., & Alexandrov, K. A. (2013) · PLoS ONE · doi:10.1371/journal.pone.0081758 · Cited by 66 · see citing works
Strunnikova, N., Barb, J. J., Sergeev, Y. V., Thiagarajasubramanian, A. K., Silvin, C. J., Munson, P. J., & MacDonald, I. M. (2009) · PLoS ONE · doi:10.1371/journal.pone.0008402 · Cited by 61 · see citing works
Self-citationWavre-Shapton, S. T., Meschede, I. P., Seabra, M. C., & Futter, C. E. (2014) · Journal of Cell Science · doi:10.1242/jcs.154757 · Cited by 60 · see citing works
Singh, P. K., Khatri, I., Jha, A., Pretto, C. D., Spindler, K. R., Arumugaswami, V., Giri, S., Kumar, A., & Bhasin, M. (2018) · Scientific Reports · doi:10.1038/s41598-018-29329-2 · Cited by 50 · see citing works
Duong, T. T., Vasireddy, V., Ramachandran, P., Herrera, P. S., Leo, L., Merkel, C., Bennett, J., & Mills, J. A. (2018) · Stem Cell Research · doi:10.1016/j.scr.2018.01.009 · Cited by 48 · see citing works
Askou, A. L., Alsing, S., Holmgaard, A., Bek, T., & Corydon, T. J. (2017) · Acta Ophthalmologica · doi:10.1111/aos.13407 · Cited by 45 · see citing works
Choroideremia: Towards a Therapy
Kalatzis, V., Hamel, C., & MacDonald, I. M. (2013) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2013.05.009 · Cited by 42 · see citing works
Self-citationPhagocytosed photoreceptor outer segments activate mTORC1 in the retinal pigment epithelium
Yu, B., Egbejimi, A., Dharmat, R., Xu, P., Zhao, Z., Long, B., Miao, H., Chen, R., Wensel, T. G., Cai, J., et al. (2018) · Science Signaling · doi:10.1126/scisignal.aag3315 · Cited by 37 · see citing works
Pathogenic mechanisms and the prospect of gene therapy for choroideremia
Dimopoulos, I. S., Chan, S., MacLaren, R. E., & MacDonald, I. M. (2015) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2015.1046434 · Cited by 37 · see citing works
Self-citationPrenylation defects in inherited retinal diseases
Roosing, S., Collin, R. W. J., den Hollander, A. I., Cremers, F. P. M., & Siemiatkowska, A. M. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-102138 · Cited by 36 · see citing works
Yu, B., Xu, P., Zhao, Z., Cai, J., Sternberg, P., & Chen, Y. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-14758 · Cited by 33 · see citing works
Choroideremia: molecular mechanisms and development of AAV gene therapy
Patrício, M. I., Barnard, A. R., Xue, K., & MacLaren, R. E. (2018) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2018.1484448 · Cited by 34 · see citing works
Black, A. D., Vasireddy, V., Chung, D., Maguire, A., Gaddameedi, R., Tolmachova, T., Seabra, M., & Bennett, J. (2014) · Journal of Gene Medicine · doi:10.1002/jgm.2768 · Cited by 32 · see citing works
The physiology of the retinal pigment epithelium in Danon disease
Thompson, D. A., Constable, P. A., Liasis, A., Walters, B., & Esteban, M. T. (2016) · Retina · doi:10.1097/iae.0000000000000736 · Cited by 31 · see citing works
Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy
Toms, M., Burgoyne, T., Tracey‐White, D., Richardson, R., Dubis, A. M., Webster, A. R., Futter, C. E., & Moosajee, M. (2019) · Scientific Reports · doi:10.1038/s41598-019-40507-8 · Cited by 29 · see citing works
Johansson, J. K., Karema-Jokinen, V., Hakanen, S., Jylhä, A., Uusitalo, H. M. T., Vihinen‐Ranta, M., Skottman, H., Ihalainen, T. O., & Nymark, S. (2019) · BMC Biology · doi:10.1186/s12915-019-0681-1 · Cited by 27 · see citing works
Milićević, N., Mazzaro, N., de Bruin, I., Wils, E., ten Brink, J. B., ten Asbroek, A. L. M. A., Mendoza, J., Bergen, A. A. B., & Felder‐Schmittbuhl, M. (2019) · Scientific Reports · doi:10.1038/s41598-019-48203-3 · Cited by 26 · see citing works
Molecular Therapies for Choroideremia
Cehajic‐Kapetanovic, J., Barnard, A. R., & MacLaren, R. E. (2019) · Genes · doi:10.3390/genes10100738 · Cited by 25 · see citing works
Functional Defects in Color Vision in Patients With Choroideremia
Jolly, J. K., Groppe, M., Birks, J., Downes, S. M., & MacLaren, R. E. (2015) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2015.06.018 · Cited by 25 · see citing works
Paavo, M., de Carvalho, J. R. L., Lee, W., Sengillo, J. D., Tsang, S. H., & Sparrow, J. R. (2019) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.19-27366 · Cited by 25 · see citing works
Shelby, S. J., Feathers, K. L., Ganios, A. M., Jia, L., Miller, J. M. L., & Thompson, D. A. (2015) · Experimental Eye Research · doi:10.1016/j.exer.2015.08.006 · Cited by 22 · see citing works
Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers
Murro, V., Mucciolo, D. P., Passerini, I., Palchetti, S., Sodi, A., Virgili, G., & Rizzo, S. (2017) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-017-3751-5 · Cited by 20 · see citing works
Lam, B. L., Davis, J. L., & Gregori, N. Z. (2021) · International Ophthalmology Clinics · doi:10.1097/iio.0000000000000385 · Cited by 19 · see citing works
Jessica, Y. W., Greferath, U., Wong, J. H. C., Fothergill, L. J., Jobling, A. I., Vessey, K. A., & Fletcher, E. L. (2023) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2023.03.003 · Cited by 19 · see citing works
Tribbles homolog 3-mediated targeting the AKT/mTOR axis in mice with retinal degeneration
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Donato, L., Scimone, C., Nicocia, G., D’Angelo, R., & Sidoti, A. (2018) · Cell Cycle · doi:10.1080/15384101.2018.1558873 · Cited by 17 · see citing works
RetractedPRE-1 Revealed Previous Unknown Introgression Events in Eurasian Boars during the Middle Pleistocene
Zhao, P., Du, H., Jiang, L., Zheng, X., Feng, W., Diao, C., Zhou, L., Liu, G. E., Zhang, H., Chamba, Y., et al. (2020) · Genome Biology and Evolution · doi:10.1093/gbe/evaa142 · Cited by 15 · see citing works
CHM mutation spectrum and disease: An update at the time of human therapeutic trials
Zeitz, C., Nassisi, M., Coriat, C., Andrieu, C., Boyard, F., Condroyer, C., Démontant, V., Antonio, A., Lancelot, M., Frederiksen, H. N., et al. (2021) · Human Mutation · doi:10.1002/humu.24174 · Cited by 14 · see citing works
Gilmore, W. B., Hultgren, N. W., Chadha, A., Barocio, S. B., Zhang, J., Kutsyr, O., Flores‐Bellver, M., Canto-Soler, M. V., & Williams, D. S. (2023) · Vision Research · doi:10.1016/j.visres.2023.108311 · Cited by 12 · see citing works
Expression of Rab Prenylation Pathway Genes and Relation to Disease Progression in Choroideremia
Fry, L. E., Patrício, M. I., Jolly, J. K., Xue, K., & MacLaren, R. E. (2021) · Translational Vision Science & Technology · doi:10.1167/tvst.10.8.12 · Cited by 12 · see citing works
Microtubule Motor Transport of Organelles in a Specialized Epithelium: The RPE
Hazim, R. A., & Williams, D. S. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.852468 · Cited by 10 · see citing works
Coxon, F. P., Taylor, A., Stewart, C. A., Baron, R., Seabra, M. C., Ebetino, F. H., & Rogers, M. J. (2011) · Bone · doi:10.1016/j.bone.2011.03.686 · Cited by 10 · see citing works
Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures
Parmann, R., Greenstein, V. C., Tsang, S. H., & Sparrow, J. R. (2022) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.63.8.4 · Cited by 9 · see citing works
Raeker, M. Ö., Perera, N. D., Karoukis, A. J., Chen, L., Feathers, K. L., Ali, R. R., Thompson, D. A., & Fahim, A. T. (2024) · Cells · doi:10.3390/cells13121068 · Cited by 7 · see citing works
Current Concepts and Emerging Gene Therapies for Inherited Retinal Diseases
Gregori, N. Z., Hussain, R. M., Kay, C. N., Lam, B. L., Dermer, H., & Davis, J. L. (2018) · International Ophthalmology Clinics · doi:10.1097/iio.0000000000000259 · Cited by 7 · see citing works
Zhou, X., Zhang, J., Ding, Y., Huang, H., Li, Y., & Chen, W. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1075824 · Cited by 7 · see citing works
Strunnikova, N., Zein, W. M., Silvin, C., & MacDonald, I. M. (2011) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-0631-0_49 · Cited by 7 · see citing works
Self-citationOxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia
Sarkar, H., Lahne, M., Nair, N., & Moosajee, M. (2023) · Antioxidants · doi:10.3390/antiox12091694 · Cited by 6 · see citing works
Müller, C., & Finnemann, S. C. (2020) · Springer eBooks · doi:10.1007/978-3-030-28384-1_3 · Cited by 6 · see citing works
Modeling Choroideremia Disease with Isogenic Induced Pluripotent Stem Cells
Fonseca, A. F., Coelho, R., Lopes‐da‐Silva, M., de Lemos, L., Hall, M. J., Oliveira, D., Falcão, A. S., Tenreiro, S., Seabra, M. C., & Antas, P. (2024) · Stem Cells and Development · doi:10.1089/scd.2024.0105 · Cited by 5 · see citing works
Choroideremia: Toward Regulatory Approval of Retinal Gene TherapyPreprint
Yusuf, I. H., & MacLaren, R. E. (2023) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a041279 · Cited by 5 · see citing works
Machine learning-based 3D segmentation of mitochondria in polarized epithelial cells
Hultgren, N. W., Zhou, T., & Williams, D. S. (2024) · Mitochondrion · doi:10.1016/j.mito.2024.101882 · Cited by 4 · see citing works
Méjécase, C., Nair, N., Sarkar, H., Soro-Barrio, P., Toms, M., Halliday, S. R., Linkens, K., Jaroszynska, N., Maurer, C., Owen, N., et al. (2024) · Antioxidants · doi:10.3390/antiox13121587 · Cited by 2 · see citing works
Coelho, R., Antas, P., Fonseca, A. F., Oliveira, D., Carvalho, C., Pedro, M. L., Hall, M. J., Falcão, A. S., Seabra, M. C., & Lopes‐da‐Silva, M. (2025) · Molecular Biology of the Cell · doi:10.1091/mbc.e24-11-0497 · Cited by 2 · see citing works
Lessons learned from research on choroideremia
MacDonald, I. M. (2022) · Ophthalmic Genetics · doi:10.1080/13816810.2022.2025608 · Cited by 2 · see citing works
Self-citationHan, X., Yu, Y., Ding, J., Sun, Z., Li, H., Zou, X., & Sui, R. (2026) · Eye and Vision · doi:10.1186/s40662-026-00476-2 · Cited by 1 · see citing works
The photoreceptor outer segment: Development and renewal
Hazim, R. A., Fisher, S. K., & Williams, D. S. (2025) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2025.07.002 · Cited by 1 · see citing works
Molecular Genetics of Choroideremia
Freund, P. R., & MacDonald, I. M. (2012) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0024310
Self-citationShelby, S. J. (2012) · Deep Blue (University of Michigan)
Statins and Protein Prenylation in the Retina
Ling, J. Y. M. (2017) · ERA: Education and Research Archive (University of Alberta) · doi:10.7939/r39s1m03v
iPSCs for modeling choroideremia
Jazouli, Z., Torriano, S., & Kalatzis, V. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-823882-0.00005-9
Moussa, M. T., Scoles, D., Branham, K. E. H., Fahim, A. T., & Capone, A. (2022) · American Journal of Ophthalmology Case Reports · doi:10.1016/j.ajoc.2022.101718
Müller, C., & Finnemann, S. C. (2024) · Springer eBooks · doi:10.1007/978-3-031-35055-9_3
Photoreceptor Outer Segment Renewal
Hazim, R. A., Paniagua, A. E., & Williams, D. S. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13820-1.00182-1
Han, X., Yang, Y., Wei, X., Sun, Z., Li, H., Zou, X., & Sui, R. (2026) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.67.5.10
McKinney, J. R. (2026) · Patient Education and Counseling · doi:10.1016/j.pec.2026.109843
- Authors
- Gordiyenko, N. V., Fariss, R. N., Zhi, C., & MacDonald, I. M.
- Affiliations
- National Institutes of Health (US)
- Biological Imaging Core and
- From the Ophthalmic Genetics and Visual Function Branch,
- Venue
- Investigative Opthalmology & Visual Science
- Published
- 2010-02-01
- Volume
- 51
- Issue
- 2
- Pages
- 1143
- ISSN
- 0146-0404 (ISSN-L)
- 1552-5783
- PMC
- PMC2868448
- OpenAlex
- W2032286919
- Cited by
- 69
- References
- 46
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 6 · 2023: 5 · 2022: 5 · 2021: 4 · 2020: 5 · 2019: 5 · 2018: 6 · 2017: 4 · 2015: 5 · 2014: 7 · 2013: 5 · 2012: 2
- FWCI
- 1.43
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Investigative Ophthalmology & Visual Science (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Keywords
- choroideremia, Rab escort protein 1, retinal pigment epithelium, photoreceptor outer segment phagocytosis, phagosome-lysosome fusion, phagosome acidification, vesicle trafficking, MCP-1 secretion, IL-8 secretion, choroidal inflammation, siRNA knockdown
- MeSH terms
- Animals, Cattle, Cells, Cultured, Humans, Hydrogen-Ion Concentration, Lysosomes, Phagocytosis, Phagosomes, Endosomes, Rhodopsin, Transfection, Cytokines, Microscopy, Confocal, rab GTP-Binding Proteins, Gene Silencing, RNA, Small Interfering, Adaptor Proteins, Signal Transducing, Retinal Pigment Epithelium, Retinal Photoreceptor Cell Outer Segment, Secretory Pathway
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