{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T00:11:01Z","timestamp":1782519061066,"version":"3.54.5"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2017,7,13]],"date-time":"2017-07-13T00:00:00Z","timestamp":1499904000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100006209","name":"Radboud University Medical Center","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006209","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Neurobiol"],"DOI":"10.1007\/s12035-017-0673-5","type":"journal-article","created":{"date-parts":[[2017,7,13]],"date-time":"2017-07-13T03:27:11Z","timestamp":1499916431000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Variants in the PRPF8 Gene are Associated with Glaucoma"],"prefix":"10.1007","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3103-4815","authenticated-orcid":false,"given":"Shazia","family":"Micheal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barend F.","family":"Hogewind","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Imran","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sorath Noorani","family":"Siddiqui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saemah Nuzhat","family":"Zafar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farah","family":"Akhtar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raheel","family":"Qamar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carel B.","family":"Hoyng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneke I.","family":"den Hollander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,7,13]]},"reference":[{"issue":"3","key":"673_CR1","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1136\/bjo.2005.081224","volume":"90","author":"HA Quigley","year":"2006","unstructured":"Quigley HA, Broman AT (2006) The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 90(3):262\u2013267","journal-title":"Br J Ophthalmol"},{"issue":"2","key":"673_CR2","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1590\/S0004-27492011000200001","volume":"74","author":"MT Leite","year":"2011","unstructured":"Leite MT, Sakata LM, Medeiros FA (2011) Managing glaucoma in developing countries. Arq Bras Oftalmol 74(2):83\u201384","journal-title":"Arq Bras Oftalmol"},{"issue":"2","key":"673_CR3","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1016\/S0161-6420(02)01568-3","volume":"110","author":"AP Rotchford","year":"2003","unstructured":"Rotchford AP, Kirwan JF, Muller MA, Johnson GJ, Roux P (2003) Temba glaucoma study: a population-based cross-sectional survey in urban South Africa. Ophthalmology 110(2):376\u2013382","journal-title":"Ophthalmology"},{"issue":"4","key":"673_CR4","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1001\/archopht.122.4.532","volume":"122","author":"DS Friedman","year":"2004","unstructured":"Friedman DS, Wolfs RC, O'Colmain BJ, Klein BE, Taylor HR, West S, Leske MC, Mitchell P et al (2004) Prevalence of open-angle glaucoma among adults in the United States. Arch Ophthalmol 122(4):532\u2013538","journal-title":"Arch Ophthalmol"},{"issue":"9","key":"673_CR5","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1136\/bjophthalmol-2011-301189","volume":"96","author":"AC Day","year":"2012","unstructured":"Day AC, Baio G, Gazzard G, Bunce C, Azuara-Blanco A, Munoz B, Friedman DS, Foster PJ (2012) The prevalence of primary angle closure glaucoma in European derived populations: a systematic review. Br J Ophthalmol 96(9):1162","journal-title":"Br J Ophthalmol"},{"issue":"2","key":"673_CR6","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1001\/archopht.1990.01070040138048","volume":"108","author":"JM Tielsch","year":"1990","unstructured":"Tielsch JM, Sommer A, Witt K, Katz J, Royall RM (1990) Blindness and visual impairment in an American urban population. The Baltimore eye survey. Arch Ophthalmol 108(2):286\u2013290","journal-title":"Arch Ophthalmol"},{"issue":"6","key":"673_CR7","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1016\/j.preteyeres.2012.07.001","volume":"31","author":"DJ Calkins","year":"2012","unstructured":"Calkins DJ (2012) Critical pathogenic events underlying progression of neurodegeneration in glaucoma. Prog Retin Eye Res 31(6):702\u2013719","journal-title":"Prog Retin Eye Res"},{"issue":"4","key":"673_CR8","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1111\/j.1442-9071.2012.02789.x","volume":"40","author":"JE Morgan","year":"2012","unstructured":"Morgan JE (2012) Retina ganglion cell degeneration in glaucoma: an opportunity missed? A review. Clin Experiment Ophthalmol 40(4):364\u2013368","journal-title":"Clin Experiment Ophthalmol"},{"issue":"2","key":"673_CR9","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/ng.3482","volume":"48","author":"JN Bailey","year":"2016","unstructured":"Bailey JN, Loomis SJ, Kang JH, Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P et al (2016) Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat Genet 48(2):189\u2013194","journal-title":"Nat Genet"},{"issue":"1","key":"673_CR10","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/ng0593-47","volume":"4","author":"VC Sheffield","year":"1993","unstructured":"Sheffield VC, Stone EM, Alward WL, Sheffield VC, Stone EM, Alward WL, Drack AV, Johnson AT et al (1993) Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet 4(1):47\u201350","journal-title":"Nat Genet"},{"issue":"5300","key":"673_CR11","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1126\/science.275.5300.668","volume":"275","author":"EM Stone","year":"1997","unstructured":"Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF et al (1997) Identification of a gene that causes primary pen angle glaucoma. Science 275(5300):668\u2013670","journal-title":"Science"},{"issue":"5557","key":"673_CR12","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1126\/science.1066901","volume":"295","author":"T Rezaie","year":"2002","unstructured":"Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, H\u00e9on E, Krupin T et al (2002) Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 295(5557):1077\u20131079","journal-title":"Science"},{"issue":"3","key":"673_CR13","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1086\/301767","volume":"62","author":"M Sarfarazi","year":"1998","unstructured":"Sarfarazi M, Child A, Stoilova D, Brice G, Desai T, Trifan OC, Poinoosawmy D, Crick RP (1998) Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. Am J Hum Genet 62(3):641\u2013652","journal-title":"Am J Hum Genet"},{"issue":"2","key":"673_CR14","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1001\/archopht.117.2.237","volume":"117","author":"MK Wirtz","year":"1999","unstructured":"Wirtz MK, Samples JR, Rust K, Lie J, Nordling L, Schilling K, Acott TS, Kramer PL (1999) GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Arch Ophthalmol 117(2):237\u2013241","journal-title":"Arch Ophthalmol"},{"issue":"6","key":"673_CR15","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1093\/hmg\/ddr572","volume":"21","author":"F Pasutto","year":"2012","unstructured":"Pasutto F, Keller KE, Weisschuh N, Sticht H, Samples JR, Yang YF, Zenkel M, Schl\u00f6tzer-Schrehardt U et al (2012) Variants in ASB10 are associated with open-angle glaucoma. Hum Mol Genet 21(6):1336\u20131349","journal-title":"Hum Mol Genet"},{"issue":"6","key":"673_CR16","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1093\/hmg\/ddi068","volume":"14","author":"S Monemi","year":"2005","unstructured":"Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, H\u00e9on E et al (2005) Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet 14(6):725\u2013733","journal-title":"Hum Mol Genet"},{"issue":"7","key":"673_CR17","doi-asserted-by":"crossref","first-page":"e0132529","DOI":"10.1371\/journal.pone.0132529","volume":"10","author":"DS Mackay","year":"2015","unstructured":"Mackay DS, Bennett TM, Shiels A (2015) Exome sequencing identifies a missense variant in EFEMP1 co-segregating in a family with autosomal dominant primary open-angle glaucoma. PLoS One 10(7):e0132529","journal-title":"PLoS One"},{"issue":"1","key":"673_CR18","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1001\/archopht.125.1.86","volume":"125","author":"SP Suriyapperuma","year":"2007","unstructured":"Suriyapperuma SP, Child A, Desai T, Brice G, Kerr A, Crick RP, Sarfarazi M (2007) A new locus (GLC1H) for adult-onset primary open-angle glaucoma maps to the 2p15-p16 region. Arch Ophthalmol 125(1):86\u201392","journal-title":"Arch Ophthalmol"},{"issue":"4","key":"673_CR19","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1093\/hmg\/6.4.641","volume":"6","author":"I Stoilov","year":"1997","unstructured":"Stoilov I, Akarsu AN, Sarfarazi M (1997) Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 6(4):641\u2013647","journal-title":"Hum Mol Genet"},{"issue":"11","key":"673_CR20","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1056\/NEJMra0804630","volume":"360","author":"YH Kwon","year":"2009","unstructured":"Kwon YH, Fingert JH, Kuehn MH, Alward WL (2009) Primary open-angle glaucoma. N Engl J Med 360(11):1113\u20131124","journal-title":"N Engl J Med"},{"key":"673_CR21","first-page":"1259","volume":"12","author":"D Mordes","year":"2006","unstructured":"Mordes D, Luo X, Kar A, Kuo D, Xu L, Fushimi K, Yu G, Sternberg P Jr et al (2006) Pre-mRNA splicing and retinitis pigmentosa. Mol Vis 12:1259\u20131271","journal-title":"Mol Vis"},{"issue":"5","key":"673_CR22","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1261\/rna.2220705","volume":"11","author":"RJ Grainger","year":"2005","unstructured":"Grainger RJ, Beggs JD (2005) Prp8 protein: at the heart of the spliceosome. RNA 11(5):533\u2013557","journal-title":"RNA"},{"issue":"7434","key":"673_CR23","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1038\/nature11843","volume":"493","author":"WP Galej","year":"2013","unstructured":"Galej WP, Oubridge C, Newman AJ, Nagai K (2013) Crystal structure of Prp8 reveals active site cavity of the spliceosome. Nature 493(7434):638\u2013643","journal-title":"Nature"},{"issue":"16","key":"673_CR24","doi-asserted-by":"crossref","first-page":"1962","DOI":"10.1101\/gad.8.16.1962","volume":"8","author":"BB Konforti","year":"1994","unstructured":"Konforti BB, Konarska MM (1994) U4\/U5\/U6 snRNP recognizes the 5\u2032 splice site in the absence of U2 snRNP. Genes Dev 8(16):1962\u20131973","journal-title":"Genes Dev"},{"issue":"7","key":"673_CR25","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1017\/S1355838299990520","volume":"5","author":"HR Luo","year":"1999","unstructured":"Luo HR, Moreau GA, Levin N, Moore MJ (1999) The human Prp8 protein is a component of both U2- and U12-dependent spliceosomes. RNA 5(7):893\u2013908","journal-title":"RNA"},{"issue":"6","key":"673_CR26","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1038\/nsmb.2556","volume":"20","author":"MJ Schellenberg","year":"2013","unstructured":"Schellenberg MJ, Wu T, Ritchie DB, Fica S, Staley JP, Atta KA, LaPointe P, MacMillan AM (2013) A conformational switch in PRP8 mediates metal ion coordination that promotes pre-mRNA exon ligation. Nat Struct Mol Biol 20(6):728\u2013734","journal-title":"Nat Struct Mol Biol"},{"issue":"5","key":"673_CR27","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.tibs.2012.02.009","volume":"37","author":"AA Hoskins","year":"2012","unstructured":"Hoskins AA, Moore MJ (2012) The spliceosome: a flexible, reversible macromolecular machine. Trends Biochem Sci 37(5):179\u2013188","journal-title":"Trends Biochem Sci"},{"issue":"15","key":"673_CR28","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1093\/hmg\/10.15.1555","volume":"10","author":"AB McKie","year":"2001","unstructured":"McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS et al (2001) Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet 10(15):1555\u20131562","journal-title":"Hum Mol Genet"},{"issue":"11","key":"673_CR29","doi-asserted-by":"crossref","first-page":"2116","DOI":"10.1093\/hmg\/ddr094","volume":"20","author":"G Tanackovic","year":"2011","unstructured":"Tanackovic G, Ransijn A, Thibault P, Abou Elela S, Klinck R, Berson EL, Chabot B, Rivolta C (2011) PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa. Hum Mol Genet 20(11):2116\u20132130","journal-title":"Hum Mol Genet"},{"issue":"4","key":"673_CR30","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/j.molcel.2007.01.023","volume":"25","author":"V Pena","year":"2007","unstructured":"Pena V, Liu S, Bujnicki JM, L\u00fchrmann R, Wahl MC (2007) Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa. Mol Cell 25(4):615\u2013624","journal-title":"Mol Cell"},{"issue":"1","key":"673_CR31","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/nsmb.1535","volume":"16","author":"C Maeder","year":"2009","unstructured":"Maeder C, Kutach AK, Guthrie C (2009) ATP-dependent unwinding of U4\/U6 snRNAs by the Brr2 helicase requires the C terminus of Prp8. Nat Struct Mol Biol 16(1):42\u201348","journal-title":"Nat Struct Mol Biol"},{"issue":"15","key":"673_CR32","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1016\/S0960-9822(07)00345-4","volume":"8","author":"PL Raghunathan","year":"1998","unstructured":"Raghunathan PL, Guthrie C (1998) RNA unwinding in U4\/U6 snRNPs requires ATP hydrolysis and the DEIH-box splicing factor Brr2. Curr Biol 8(15):847\u2013855","journal-title":"Curr Biol"},{"issue":"4","key":"673_CR33","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1093\/genetics\/157.4.1451","volume":"157","author":"RW Nues van","year":"2001","unstructured":"van Nues RW, Beggs JD (2001) Functional contacts with a range of splicing proteins suggest a central role for Brr2p in the dynamic control of the order of events in spliceosomes of Saccharomyces cerevisiae. Genetics 157(4):1451\u20131467","journal-title":"Genetics"},{"issue":"6","key":"673_CR34","doi-asserted-by":"crossref","first-page":"2330","DOI":"10.1167\/iovs.07-1513","volume":"49","author":"D Trifunovic","year":"2008","unstructured":"Trifunovic D, Karali M, Camposampiero D, Ponzin D, Banfi S, Marigo V (2008) A high-resolution RNA expression atlas of retinitis pigmentosa genes in human and mouse retinas. Invest Ophthalmol Vis Sci 49(6):2330\u20132336","journal-title":"Invest Ophthalmol Vis Sci"}],"container-title":["Molecular Neurobiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12035-017-0673-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12035-017-0673-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12035-017-0673-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,30]],"date-time":"2022-07-30T22:14:03Z","timestamp":1659219243000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12035-017-0673-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,13]]},"references-count":34,"alternative-id":["673"],"URL":"https:\/\/doi.org\/10.1007\/s12035-017-0673-5","relation":{},"ISSN":["0893-7648","1559-1182"],"issn-type":[{"value":"0893-7648","type":"print"},{"value":"1559-1182","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,13]]}}}