Keeping An Eye On Myocilin: A Complex Molecule Associated With Primary Open-angle Glaucoma Susceptibility

dc.creatorMenaa F.
dc.creatorBraghini C.A.
dc.creatorDe Vasconcellos J.P.C.
dc.creatorMenaa B.
dc.creatorCosta V.P.
dc.creatorDe Figueiredo E.S.
dc.creatorDe Melo M.B.
dc.date2011
dc.date2015-06-30T20:46:03Z
dc.date2015-11-26T14:55:01Z
dc.date2015-06-30T20:46:03Z
dc.date2015-11-26T14:55:01Z
dc.date.accessioned2018-03-28T22:07:03Z
dc.date.available2018-03-28T22:07:03Z
dc.identifier
dc.identifierMolecules. , v. 16, n. 7, p. 5402 - 5421, 2011.
dc.identifier14203049
dc.identifier10.3390/molecules16075402
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-79960824875&partnerID=40&md5=3be0608e68319bc717731ffa21fc9997
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/109152
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/109152
dc.identifier2-s2.0-79960824875
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1255267
dc.descriptionMYOC encodes a secretary glycoprotein of 504 amino acids named myocilin. MYOC is the first gene to be linked to juvenile open-angle glaucoma (JOAG) and some forms of adult-onset primary open-angle glaucoma (POAG). The gene was identified as an up-regulated molecule in cultured trabecular meshwork (TM) cells after treatment with dexamethasone and was originally referred to as trabecular meshwork-inducible glucocorticoid response (TIGR). Elevated intraocular pressure (IOP), due to decreased aqueous outflow, is the strongest known risk factor for POAG. Increasing evidence showed that the modulation of the wild-type (wt) myocilin protein expression is not causative of glaucoma while some misfolded and self-assembly aggregates of mutated myocilin may be associated with POAG in related or unrelated populations. The etiology of the disease remains unclear. Consequently, a better understanding of the molecular mechanisms underlyingPOAG is required to obtain early diagnosis, avoid potential disease progression, and develop new therapeutic strategies. In the present study, we review and discuss the most relevant studies regarding structural characterizations, expressions, molecular interactions, putative functions of MYOC gene and/or its corresponding protein in POAG etiology. © 2011 by the authors; licensee MDPI, Basel, Switzerland.
dc.description16
dc.description7
dc.description5402
dc.description5421
dc.descriptionFlammer, J., Mozaffarieh, M., What is the present pathogenetic concept of glaucomatous optic neuropathy? (2007) Surv. Ophthalmol, 52, pp. 162-173
dc.descriptionMorrison, J.C., Johnson, E.C., Cepurna, W., Jia, L., Understanding mechanisms of pressure-induced optic nerve damage (2005) Progress in Retinal and Eye Research, 24 (2), pp. 217-240. , DOI 10.1016/j.preteyeres.2004.08.003, PII S1350946204000722
dc.descriptionQuigley, H.A., Neuronal death in glaucoma (1999) Progress in Retinal and Eye Research, 18 (1), pp. 39-57. , DOI 10.1016/S1350-9462(98)00014-7, PII S1350946298000147
dc.descriptionQuigley, H., Broman, A.T., The number of people with glaucoma worldwide in 2010 and 2020 (2006) British Journal of Ophthalmology, 90 (3), pp. 262-267. , DOI 10.1136/bjo.2005.081224
dc.descriptionLeske, M.C., Open-angle glaucoma-An epidemiologic overview (2007) Ophthalmic. Epidemiol, 14, pp. 166-172
dc.descriptionLibby, R.T., Gould, D.B., Anderson, M.G., John, S.W.M., Complex genetics of glaucoma susceptibility (2005) Annual Review of Genomics and Human Genetics, 6, pp. 15-44. , DOI 10.1146/annurev.genom.6.080604.162209
dc.descriptionLeske, M.C., Ocular perfusion pressure and glaucoma: Clinical trial and epidemiologic findings (2009) Curr. Opin. Ophthalmol, 20, pp. 73-78
dc.descriptionTamm, E.R., The trabecular meshwork outflow pathways: Structural and functional aspects (2009) Exp. Eye Res, 88, pp. 648-655
dc.descriptionTektas, O.Y., Lütjen-Drecoll, E., Structural changes of the trabecular meshwork in different kinds of glaucoma (2009) Exp. Eye Res, 88, pp. 769-775
dc.descriptionGasiorowski, J.Z., Russell, P., Biological properties of trabecular meshwork cells (2009) Exp. Eye Res, 88, pp. 671-675
dc.descriptionPolansky, J.R., Fauss, D.J., Chen, P., Chen, H., Lutjen-Drecoll, E., Johnson, D., Kurtz, R.M., Nguyen, T.D., Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product (1997) Ophthalmologica, 211 (3), pp. 126-139
dc.descriptionStone, E.M., Fingert, J.H., Alward, W.L.M., Nguyen, T.D., Polansky, J.R., Sunden, S.L.F., Nishimura, D., Sheffield, V.C., Identification of a gene that causes primary open angle glaucoma (1997) Science, 275 (5300), pp. 668-670. , DOI 10.1126/science.275.5300.668
dc.descriptionDetry-Morel, M., Currents on target intraocular pressure and intraocular pressure fluctuations in glaucoma management (2008) Bull. Soc. Belge Ophtalmol, 308, pp. 35-43
dc.descriptionClement, C.I., Goldberg, I., The management of complicated glaucoma (2011) Indian J. Ophthalmol, 59, pp. 141-147
dc.descriptionFan, B.J., Wiggs, J.L., Glaucoma: Genes, phenotypes, and new directions for therapy (2010) J. Clin. Invest, 120, pp. 3064-3072
dc.descriptionShimizu, S., Lichter, P.R., Johnson, A.T., Zhou, Z., Higashi, M., Gottfredsdottir, M., Othman, M., Schertzer, R.M., Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma (2000) Am. J. Ophthalmol, 130, pp. 165-177
dc.descriptionGobeil, S., Rodrigue, M.-A., Moisan, S., Nguyen, T.D., Polansky, J.R., Morissette, J., Raymond, V., Intracellular sequestration of hetero-oligomers formed by wild-type and glaucoma-causing myocilin mutants (2004) Investigative Ophthalmology and Visual Science, 45 (10), pp. 3560-3567. , DOI 10.1167/iovs.04-0300
dc.descriptionJacobson, N., Andrews, M., Shepard, A.R., Nishimura, D., Searby, C., Fingert, J.H., Hageman, G., Sheffield, V.C., Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor (2001) Human Molecular Genetics, 10 (2), pp. 117-125
dc.descriptionMalyukova, I., Lee, H.-S., Fariss, R.N., Tomarev, S.I., Mutated mouse and human myocilins have similar properties and do not block general secretory pathway (2006) Investigative Ophthalmology and Visual Science, 47 (1), pp. 206-212. , DOI 10.1167/iovs.05-0220
dc.descriptionJoe, M.K., Sohn, S., Hur, W., Moon, Y., Choi, Y.R., Kee, C., Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells (2003) Biochemical and Biophysical Research Communications, 312 (3), pp. 592-600. , DOI 10.1016/j.bbrc.2003.10.162
dc.descriptionLiu, Y., Vollrath, D., Reversal of mutant myocilin non-secretion and cell killing: Implications for glaucoma (2004) Human Molecular Genetics, 13 (11), pp. 1193-1204. , DOI 10.1093/hmg/ddh128
dc.descriptionSheffield, V.C., Stone, E.M., Alward, W.L.M., Drack, A.V., Johnson, A.T., Streb, L.M., Nichols, B.E., Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31 (1993) Nature Genetics, 4 (1), pp. 47-50. , DOI 10.1038/ng0593-47
dc.descriptionOrtego, J., Escribano, J., Coca-Prados, M., Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin (1997) FEBS Letters, 413 (2), pp. 349-353. , DOI 10.1016/S0014-5793(97)00934-4, PII S0014579397009344
dc.descriptionKubota, R., Noda, S., Wang, Y., Minoshima, S., Asakawa, S., Kudoh, J., Mashima, Y., Shimizu, N., A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: Molecular cloning, tissue expression, and chromosomal mapping (1997) Genomics, 41 (3), pp. 360-369. , DOI 10.1006/geno.1997.4682
dc.descriptionNguyen, T.D., Chen, P., Huang, W.D., Chen, H., Johnson, D., Polansky, J.R., Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells (1998) Journal of Biological Chemistry, 273 (11), pp. 6341-6350. , DOI 10.1074/jbc.273.11.6341
dc.descriptionFrancois, J., Cortisone et tension ocularie (1954) Ann. Ocul. (Paris), 187, pp. 805-816
dc.descriptionFingert, J.H., Clark, A.F., Craig, J.E., Alward, W.L.M., Snibson, G.R., McLaughlin, M., Tuttle, L., Stone, E.M., Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension (2001) Investigative Ophthalmology and Visual Science, 42 (1), pp. 145-152
dc.descriptionTomarev, S.I., Wistow, G., Raymond, V., Dubois, S., Malyukova, I., Gene expression profile of the human trabecular meshwork: NEIBank sequence tag analysis (2003) Investigative Ophthalmology and Visual Science, 44 (6), pp. 2588-2596. , DOI 10.1167/iovs.02-1099
dc.descriptionKarali, A., Russell, P., Stefani, F.H., Tamm, E.R., Localization of myocilin/trabecular meshwork-inducible glucocorticoid response protein in the human eye (2000) Investigative Ophthalmology and Visual Science, 41 (3), pp. 729-740
dc.descriptionWistow, G., Bernstein, S.L., Ray, S., Wyatt, M.K., Behal, A., Touchman, J.W., Bouffard, G., Peterson, K., Expressed sequence tag analysis of adult human iris for the NEIBank project: Steroid-response factors and similarities with retinal pigment epithelium (2002) Molecular Vision, 8, pp. 185-195. , http://www.molvis.org/molvis/v8/a25/
dc.descriptionWistow, G., Bernstein, S.L., Wyatt, M.K., Fariss, R.N., Behal, A., Touchman, J.W., Bouffard, G., Peterson, K., Expressed sequence tag analysis of human RPE/choroid for the NEIBank project: Over 6000 non-redundant transcripts, novel genes and splice variants (2002) Molecular Vision, 8, pp. 205-220. , http://www.molvis.org/molvis/v8/a27/
dc.descriptionSwiderski, R.E., Ross, J.L., Fingert, J.H., Clark, A.F., Alward, W.L., Stone, E.M., Sheffield, V.C., Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization (2000) Investig. Ophthalmol. Vis. Sci, 41, pp. 3420-3428
dc.descriptionRao, P.V., Allingham, R.R., Epstein, D.L., TIGR/myocilin in human aqueous humor (2000) Experimental Eye Research, 71 (6), pp. 637-641. , DOI 10.1006/exer.2000.0920
dc.descriptionRussell, P., Tamm, E.R., Grehn, F.J., Picht, G., Johnson, M., The presence and properties of myocilin in the aqueous humor (2001) Investigative Ophthalmology and Visual Science, 42 (5), pp. 983-986
dc.descriptionKong, T.H., Post-transcriptional modification of the gene genetically linked to juvenile open-angle glaucoma
dc.descriptionnovel transcripts in human ocular tissues (2001) Gene, 280 (1-2), pp. 115-122. , DOI 10.1016/S0378-1119(01)00777-6, PII S0378111901007776
dc.descriptionJoe, M.K., Sohn, S., Kim, T.E., Im, J.E., Choi, Y.R., Kee, C., Analysis of glucocorticoid-induced MYOC expression in human trabecular meshwork cells (2011) Vis. Res, 51, pp. 1033-1038
dc.descriptionPark, B.-C., Tibudan, M., Samaraweera, M., Shen, X., Yue, B.Y.J.T., Interaction between two glaucoma genes, optineurin and myocilin (2007) Genes to Cells, 12 (8), pp. 969-979. , DOI 10.1111/j.1365-2443.2007.01102.x
dc.descriptionFingert, J.H., Ying, L., Swiderski, R.E., Nystuen, A.M., Arbour, N.C., Alward, W.L.M., Sheffield, V.C., Stone, E.M., Characterization and comparison of the human and mouse GLC1A glaucoma genes (1998) Genome Research, 8 (4), pp. 377-384
dc.descriptionTomarev, S.I., Tamm, E.R., Chang, B., Characterization of the mouse Myoc/Tigr gene (1998) Biochemical and Biophysical Research Communications, 245 (3), pp. 887-893. , DOI 10.1006/bbrc.1998.8541
dc.descriptionKubota, R., Kudoh, J., Mashima, Y., Asakawa, S., Minoshima, S., Hejtmancik, J.F., Oguchi, Y., Shimizu, N., Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A) (1998) Biochemical and Biophysical Research Communications, 242 (2), pp. 396-400. , DOI 10.1006/bbrc.1997.7972
dc.descriptionMukhopadhyay, A., Talukdar, S., Bhattacharjee, A., Ray, K., Bioinformatic approaches for identification and characterization of olfactomedin related genes with a potential role in pathogenesis of ocular disorders (2004) Molecular Vision, 10, pp. 304-314. , http://www.molvis.org/molvis/v10/a39/
dc.descriptionYokoe, H., Anholt, R.R.H., Molecular cloning of olfactomedin, an extracellular matrix protein specific to olfactory neuroepithelium (1993) Proceedings of the National Academy of Sciences of the United States of America, 90 (10), pp. 4655-4659
dc.descriptionZeng, L.C., Han, Z.G., Ma, W.J., Elucidation of subfamily segregation and intramolecular coevolution of the olfactomedin-like proteins by comprehensive phylogenetic analysis and gene expression pattern assessment (2005) FEBS Lett, 579, pp. 5443-5453
dc.descriptionSnyder, D.A., Rivers, A.M., Yokoe, H., Menco, B.P., Anholt, R.R., Olfactomedin: Purification, characterization, and localization of a novel olfactory glycoprotein (1991) Biochemistry, 30, pp. 9143-9153
dc.descriptionBarembaum, M., Moreno, T.A., Labonne, C., Sechrist, J., Bronner-Fraser, M., Noelin-1 is a secreted glycoprotein involved in generation of the neural crest (2000) Nat. Cell Biol, 2, pp. 219-225
dc.descriptionDanielson, P.E., Forss-Petter, S., Battenberg, E.L.F., DeLecea, L., Bloom, F.E., Sutcliffe, J.G., Four structurally distinct neuron-specific olfactomedin-related glycoproteins produced by differential promoter utilization and alternative mRNA splicing from a single gene (1994) Journal of Neuroscience Research, 38 (4), pp. 468-478. , DOI 10.1002/jnr.490380413
dc.descriptionGraveel, C.R., Harkins-Perry, S.R., Acevedo, L.G., Farnham, P.J., Identification and characterization of CRG-L2, a new marker for liver tumor development (2003) Oncogene, 22 (11), pp. 1730-1736. , DOI 10.1038/sj.onc.1206309
dc.descriptionHillier, B.J., Vacquier, V.D., Amassin, an olfactomedin protein, mediates the massive intercellular adhesion of sea urchin coelomocytes (2003) Journal of Cell Biology, 160 (4), pp. 597-604. , DOI 10.1083/jcb.200210053
dc.descriptionKulkarni, N.H., Karavanich, C.A., Atchley, W.R., Anholt, R.R.H., Characterization and differential expression of a human gene family of olfactomedin-related proteins (2000) Genetical Research, 76 (1), pp. 41-50. , DOI 10.1017/S0016672300004584
dc.descriptionLoria, P.M., Hodgkin, J., Hobert, O., A Conserved Postsynaptic Transmembrane Protein Affecting Neuromuscular Signaling in Caenorhabditis elegans (2004) Journal of Neuroscience, 24 (9), pp. 2191-2201. , DOI 10.1523/JNEUROSCI.5462-03.2004
dc.descriptionNakaya, N., Lee, H.S., Takada, Y., Tzchori, I., Tomarev, S.I., Zebrafish olfactomedin 1 regulates retinal axon elongation in vivo and is a modulator of Wnt signaling pathway (2008) J. Neurosci, 28, pp. 7900-7910
dc.descriptionTorrado, M., Trivedi, R., Zinovieva, R., Karavanova, I., Tomarev, S.I., Optimedin: A novel olfactomedin-related protein that interacts with myocilin (2002) Human Molecular Genetics, 11 (11), pp. 1291-1301
dc.descriptionTsuda, H., Sasai, N., Matsuo-Takasaki, M., Sakuragi, M., Murakami, Y., Sasai, Y., Dorsalization of the neural tube by Xenopus Tiarin, a novel patterning factor secreted by the flanking nonneural head ectoderm (2002) Neuron, 33 (4), pp. 515-528. , DOI 10.1016/S0896-6273(02)00590-1
dc.descriptionAroca-Aguilar, J.D., Sanchez-Sanchez, F., Ghosh, S., Coca-Prados, M., Escribano, J., Myocilin mutations causing glaucoma inhibit the intracellular endoproteolytic cleavage of myocilin between amino acids Arg 226 and Ile 227 (2005) Journal of Biological Chemistry, 280 (22), pp. 21043-21051. , DOI 10.1074/jbc.M501340200
dc.descriptionTamm, E.R., Myocilin and glaucoma: Facts and ideas (2002) Progress in Retinal and Eye Research, 21 (4), pp. 395-428. , DOI 10.1016/S1350-9462(02)00010-1, PII S1350946202000101
dc.descriptionOrtego, J., Escribano, J., Coca-Prados, M., Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin (1997) FEBS Letters, 413 (2), pp. 349-353. , DOI 10.1016/S0014-5793(97)00934-4, PII S0014579397009344
dc.descriptionGobeil, S., Letartre, L., Raymond, V., Functional analysis of the glaucoma-causing TIGR/myocilin protein: Integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion (2006) Experimental Eye Research, 82 (6 SPEC. ISS.), pp. 1017-1029. , DOI 10.1016/j.exer.2005.11.002, PII S0014483505003854
dc.descriptionBurns, J.N., Orwig, S.D., Harris, J.L., Watkins, J.D., Vollrath, D., Lieberman, R.L., Rescue of glaucoma-causing mutant myocilin thermal stability by chemical chaperones (2010) ACS Chem. Biol, 5, pp. 477-487
dc.descriptionFingert, J.H., Stone, E.M., Sheffield, V.C., Alward, W.L.M., Myocilin glaucoma (2002) Survey of Ophthalmology, 47 (6), pp. 547-561. , DOI 10.1016/S0039-6257(02)00353-3, PII S0039625702003533
dc.descriptionByong Su Kim, Savinova, O.V., Reedy, M.V., Martin, J., Lun, Y., Gan, L., Smith, R.S., Johnson, R.L., Targeted disruption of the myocilin gene (Myoc) suggests that human glaucoma-causing mutations are gain of function (2001) Molecular and Cellular Biology, 21 (22), pp. 7707-7713. , DOI 10.1128/MCB.21.22.7707-7713.2001
dc.descriptionGould, D.B., Miceli-Libby, L., Savinova, O.V., Torrado, M., Tomarev, S.I., Smith, R.S., John, S.W.M., Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma (2004) Molecular and Cellular Biology, 24 (20), pp. 9019-9025. , DOI 10.1128/MCB.24.20.9019-9025.2004
dc.descriptionWiggs, J.L., Vollrath, D., Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC (2001) Archives of Ophthalmology, 119 (11), pp. 1674-1678
dc.descriptionLam, D.S.C., Leung, Y.F., Chua, J.K.H., Baum, L., Fan, D.S.P., Choy, K.W., Pang, C.P., Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma (2000) Investigative Ophthalmology and Visual Science, 41 (6), pp. 1386-1391
dc.descriptionPaper, W., Kroeber, M., Heersink, S., Stephan, D.A., Fuchshofer, R., Russell, P., Tamm, E.R., Elevated amounts of myocilin in the aqueous humor of transgenic mice cause significant changes in ocular gene expression (2008) Exp. Eye Res, 87, pp. 257-267
dc.descriptionFautsch, M.P., Vrabel, A.M., Johnson, D.H., The identification of myocilin-associated proteins in the human trabecular meshwork (2006) Exp. Eye Res, 82, pp. 1046-1052
dc.descriptionMyung, K.J., Sohn, S., Young, R.C., Park, H., Kee, C., Identification of flotillin-1 as a protein interacting with myocilin: Implications for the pathogenesis of primary open-angle glaucoma (2005) Biochemical and Biophysical Research Communications, 336 (4), pp. 1201-1206. , DOI 10.1016/j.bbrc.2005.09.006, PII S0006291X05020000
dc.descriptionLi, Y., Aroca-Aguilar, J.D., Ghosh, S., Sanchez-Sanchez, F., Escribano, J., Coca-Prados, M., Interaction of myocilin with the C-terminal region of hevin (2006) Biochemical and Biophysical Research Communications, 339 (3), pp. 797-804. , DOI 10.1016/j.bbrc.2005.11.082, PII S0006291X05026264
dc.descriptionPeters, D.M., Herbert, K., Biddick, B., Peterson, J.A., Myocilin binding to Hep II domain of fibronectin inhibits cell spreading and incorporation of paxillin into focal adhesions (2005) Experimental Cell Research, 303 (2), pp. 218-228. , DOI 10.1016/j.yexcr.2004.09.026, PII S0014482704005762
dc.descriptionSurgucheva, I., Park, B.-C., Yue, B.Y.J.T., Tomarev, S., Surguchov, A., Interaction of myocilin with γ-synuclein affects its secretion and aggregation (2005) Cellular and Molecular Neurobiology, 25 (6), pp. 1009-1033. , DOI 10.1007/s10571-005-8471-4
dc.descriptionKwon, H.S., Lee, H.S., Ji, Y., Rubin, J.S., Tomarev, S.I., Myocilin is a modulator of Wnt signaling (2009) Mol. Cell. Biol, 29, pp. 2139-2154
dc.descriptionWentz-Hunter, K., Ueda, J., Yue, B.Y.J.T., Protein interactions with myocilin (2002) Investigative Ophthalmology and Visual Science, 43 (1), pp. 176-182
dc.descriptionCopin, B., Brezin, A.P., Valtot, F., Dascotte, J.-C., Bechetoille, A., Garchon, H.-J., Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene (2002) American Journal of Human Genetics, 70 (6), pp. 1575-1581. , DOI 10.1086/340733
dc.descriptionUeda, J., Yue, B.Y.J.T., Distribution of Myocilin and Extracellular Matrix Components in the Corneoscleral Meshwork of Human Eyes (2003) Investigative Ophthalmology and Visual Science, 44 (11), pp. 4772-4779. , DOI 10.1167/iovs.02-1002
dc.descriptionFautsch, M.P., Johnson, D.H., Characterization of myocilin-myocilin interactions (2001) Investigative Ophthalmology and Visual Science, 42 (10), pp. 2324-2331
dc.descriptionLo, W.R., Rowlette, L.L., Caballero, M., Yang, P., Hernandez, M.R., Borras, T., Tissue differential microarray analysis of dexamethasone induction reveals potential mechanisms of steroid glaucoma (2003) Investigative Ophthalmology and Visual Science, 44 (2), pp. 473-485. , DOI 10.1167/iovs.02-0444
dc.descriptionLiton, P.B., Luna, C., Challa, P., Epstein, D.L., Gonzalez, P., Genome-wide expression profile of human trabecular meshwork cultured cells, nonglaucomatous and primary open angle glaucoma tissue (2006) Molecular Vision, 12, pp. 774-790. , http://www.molvis.org/molvis/v12/a87/
dc.descriptionTomarev, S.I., Nakaya, N., Olfactomedin domain-containing proteins: Possible mechanisms of action and functions in normal development and pathology (2009) Mol. Neurobiol, 40, pp. 122-138
dc.descriptionKwon, Y.H., Fingert, J.H., Kuehn, M.H., Alward, W.L.M., Primary open-angle glaucoma (2009) N. Engl. J. Med, 360, pp. 1113-1124
dc.descriptionZhou, Z., Vollrath, D., A cellular assay distinguishes normal and mutant TIGR/myocilin protein (1999) Human Molecular Genetics, 8 (12), pp. 2221-2228. , DOI 10.1093/hmg/8.12.2221
dc.descriptionRangachari, K., Dhivya, M., Eswari Pandaranayaka, P.J., Prasanthi, N., Sundaresan, P., Krishnadas, S.R., Krishnaswamy, S., Glaucoma database (2011) Bioinformation, 5, pp. 398-399
dc.descriptionAdam, M.F., Belmouden, A., Binisti, P., Brezin, A.P., Valtot, F., Bechetoille, A., Dascotte, J.-C., Garchon, H.-J., Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma (1997) Human Molecular Genetics, 6 (12), pp. 2091-2097. , DOI 10.1093/hmg/6.12.2091
dc.descriptionColomb, E., Nguyen, T.D., Bechetoille, A., Dascotte, J.-C., Valtot, F., Brezin, A.P., Berkani, M., Garchon, H.-J., Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma (2001) Clinical Genetics, 60 (3), pp. 220-225. , DOI 10.1034/j.1399-0004.2001.600308.x
dc.descriptionPolansky, J.R., Juster, R.P., Spaeth, G.L., Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time (2003) Clinical Genetics, 64 (1), pp. 18-27. , DOI 10.1034/j.1399-0004.2003.00099.x
dc.descriptionSaura, M., Cabana, M., Ayuso, C., Valverde, D., Mutations including the promoter region of myocilin/TIGR gene (2005) European Journal of Human Genetics, 13 (3), pp. 384-387. , DOI 10.1038/sj.ejhg.5201299
dc.descriptionKasahara, N., Caixeta-Umbelino, C., Paolera, M.D., Rocha, M.N., Richeti, F., Vasconcellos, J.P., Cohen, R., Melo, M.R., Myocilin mt.1 gene promoter single nucleotide polymorphism (-1000C > G) in Brazilian patients with primary open angle glaucoma (2011) Ophthal. Genet, 32, pp. 18-23
dc.descriptionFaucher, M., Anctil, J.-L., Rodrigue, M.-A., Duchesne, A., Bergeron, D., Blondeau, P., Cote, G., Raymond, V., Founder TIGR/myocilin mutations for glaucoma in the Québec population (2002) Human Molecular Genetics, 11 (18), pp. 2077-2090
dc.descriptionFingert, J.H., Heon, E., Liebmann, J.M., Yamamoto, T., Craig, J.E., Rait, J., Kawase, K., Stone, E.M., Analysis of myocilin mutations in 1703 glaucoma patients from five different populations (1999) Human Molecular Genetics, 8 (5), pp. 899-905
dc.descriptionDe Vasconcellos, J.P.C., De Melo, M.B., Schimiti, R., Costa, F.F., Costa, V.P., Penetrance and phenotype of the Cys433Arg myocilin mutation in a family pedigree with primary open-angle glaucoma (2003) Journal of Glaucoma, 12 (2), pp. 104-107. , DOI 10.1097/00061198-200304000-00003
dc.descriptionVincent, A.L., Billingsley, G., Buys, Y., Levin, A.V., Priston, M., Trope, G., Williams-Lyn, D., Heon, E., Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene (2002) American Journal of Human Genetics, 70 (2), pp. 448-460. , DOI 10.1086/338709
dc.descriptionYam, G.H.-F., Zuber, C., Roth, J., A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder (2005) FASEB Journal, 19 (1), pp. 12-18. , DOI 10.1096/fj.04-2375com
dc.descriptionYam, G.H.-F., Gaplovska-Kysela, K., Zuber, C., Roth, J., Aggregated myocilin induces Russell bodies and causes apoptosis: Implications for the pathogenesis of myocilin-caused primary open-angle glaucoma (2007) American Journal of Pathology, 170 (1), pp. 100-109. , DOI 10.2353/ajpath.2007.060806
dc.descriptionAroca-Aguilar, J.D., Sánchez-Sánchez, F., Ghosh, S., Fernández-Navarro, Coca-Prados, M., Escribano, J., Interaction of recombinant myocilin with the matricellular protein SPARC: Functional implications (2011) Invest. Ophthalmol. Vis. Sci, 52, pp. 179-189
dc.descriptionSanchez-Sanchez, F., Martinez-Redondo, F., Aroca-Aguilar, J.D., Coca-Prados, M., Escribano, J., Characterization of the intracellular proteolytic cleavage of myocilin and identification of calpain II as a myocilin-processing protease (2007) Journal of Biological Chemistry, 282 (38), pp. 27810-27824. , http://www.jbc.org/cgi/reprint/282/38/27810, DOI 10.1074/jbc.M609608200
dc.descriptionAroca-Aguilar, J.D., Martínez-Redondo, F., Sánchez- Sánchez, F., Coca-Prados, M., Escribano, J., Functional role of proteolytic processing of recombinant myocilin in self-aggregation (2010) Invest. Ophthalmol. Vis. Sci, 51, pp. 72-78
dc.descriptionJia, L.-Y., Gong, B., Pang, C.-P., Huang, Y., Lam, D.S.-C., Wang, N., Yam, G.H.-F., Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte (2009) Invest. Ophthalmol. Vis. Sci, 50, pp. 3743-3749
dc.descriptionYam, G.H.-F., Gaplovska-Kysela, K., Zuber, C., Roth, J., Sodium 4-phenylbutyrate acts as a chemical chaperone on misfolded myocilin to rescue cells from endoplasmic reticulum stress and apoptosis (2007) Investigative Ophthalmology and Visual Science, 48 (4), pp. 1683-1690. , DOI 10.1167/iovs.06-0943
dc.descriptionMenaa, B., Menaa, F., Aiolfi-Guimarães, C., Sharts, O., Silica-based nanoporous sol-gel glasses: From bioencapsulation to protein folding studies (2010) Int. J. Nanotechnol, 7, pp. 1-45
dc.descriptionMenaa, B., Montoneri, C., Menaa, F., Montoneri, E., Boffa, V., Sharts, N., Protein helical structure enhancement in biocompatible fluoro-phosphonate-based nanoporous silica glasses assessed by circular dichroism spectroscopy (2011) Int. J. Nanotechnol, 8, pp. 471-491
dc.descriptionMenaa, B., Miyagawa, Y., Takahashi, M., Herrero, M., Rives, V., Menaa, F., Eggers, D.K., Bioencapsulation of apomyoglobin in nanoporous organosilica sol-gel glasses: Influence of the siloxane network on the conformation and stability of a model protein (2009) Biopolymers, 91, pp. 895-906
dc.descriptionOrwig, S.D., Lieberman, R.L., Biophysical characterization of the olfactomedin domain of myocilin, an extracellular matrix protein implicated in inherited forms of glaucoma (2011) PLoS One, 6, pp. e16347
dc.descriptionThompson, J.D., Higgins, D.G., Gibson, T.J., CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice (1994) Nucleic Acids Research, 22 (22), pp. 4673-4680
dc.descriptionHiggins, D.G., Thompson, J.D., Gibson, T.J., Using CLUSTAL for multiple sequence alignments (1996) Methods in Enzymology, 266, pp. 383-402. , DOI 10.1016/S0076-6879(96)66024-8
dc.descriptionRoy, A., Kucukural, A., I-Tasser, Z.Y., A unified platform for automated protein structure and function prediction (2010) Nat. Protoc, 5, pp. 725-738
dc.descriptionZhang, Y., I-TASSER: Fully automated protein structure prediction in CASP8 (2009) Proteins, S9, pp. 100-113
dc.descriptionZhang, Y., I-TASSER server for protein 3D structure prediction (2008) BMC Bioinform, 9, p. 40
dc.descriptionBluhm, W.F., Beran, B., Bi, C., Dimitropoulos, D., Prlic, A., Quinn, G.B., Rose, P.W., Yukich, B., Quality assurance for the query and distribution systems of the RCSB Protein Data Bank (2011) Database (Oxford), 2011. , Article ID bar003
dc.descriptionRose, P.W., Beran, B., Bi, C., Bluhm, W.F., Dimitropoulos, D., Goodsell, D.S., Prlic, A., Westbrook, J.D., The RCSB Protein Data Bank: Redesigned web site and web services (2011) Nucl. Acid. Res, pp. D392-D401. , Database
dc.descriptionSuzuki, Y., Noma, A., Suzuki, T., Ishitani, R., Nureki, O., Structural basis of tRNA modification with CO2 fixation and methylation by wybutosine synthesizing enzyme TYW4 (2009) Nucl. Acid. Res, 37, pp. 2910-2925
dc.languageen
dc.publisher
dc.relationMolecules
dc.rightsaberto
dc.sourceScopus
dc.titleKeeping An Eye On Myocilin: A Complex Molecule Associated With Primary Open-angle Glaucoma Susceptibility
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución