{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T08:46:00Z","timestamp":1768034760621,"version":"3.49.0"},"reference-count":28,"publisher":"Oxford University Press (OUP)","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,4,15]]},"DOI":"10.1093\/hmg\/dds563","type":"journal-article","created":{"date-parts":[[2013,1,8]],"date-time":"2013-01-08T17:55:38Z","timestamp":1357667738000},"page":"1507-1515","source":"Crossref","is-referenced-by-count":28,"title":["ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice"],"prefix":"10.1093","volume":"22","author":[{"given":"Lourdes","family":"Vald\u00e9s-S\u00e1nchez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berta","family":"De la Cerda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco J.","family":"Diaz-Corrales","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Massalini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina F.","family":"Chakarova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan F.","family":"Wright","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shomi S.","family":"Bhattacharya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2013,1,7]]},"reference":[{"key":"key\n\t\t\t\t20170503072736_DDS563C1","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1038\/ng1129","article-title":"A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome","volume":"33","author":"O'Driscoll","year":"2003","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503072736_DDS563C2","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1093\/carcin\/bgg137","article-title":"ATM, ATR and DNA-PK: initiators of the cellular genotoxic stress responses","volume":"24","author":"Yang","year":"2003","journal-title":"Carcinogenesis"},{"key":"key\n\t\t\t\t20170503072736_DDS563C3","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.radonc.2007.04.032","article-title":"DNA damage-induced signalling in ataxia-telangiectasia and related syndromes","volume":"83","author":"Lavin","year":"2007","journal-title":"Radiother. Oncol."},{"key":"key\n\t\t\t\t20170503072736_DDS563C4","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1038\/nrm2450","article-title":"ATR: an essential regulator of genome integrity","volume":"9","author":"Cimprich","year":"2008","journal-title":"Nat. Rev. Mol. Cell. Biol."},{"key":"key\n\t\t\t\t20170503072736_DDS563C5","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1016\/j.dnarep.2009.09.001","article-title":"Mouse models for ATR deficiency","volume":"8","author":"O'Driscoll","year":"2009","journal-title":"DNA Repair (Amst)."},{"key":"key\n\t\t\t\t20170503072736_DDS563C6","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/S0002-9394(01)01046-7","article-title":"Ocular manifestations of Seckel syndrome","volume":"132","author":"Guirgis","year":"2001","journal-title":"Am. J. Ophthalmol."},{"key":"key\n\t\t\t\t20170503072736_DDS563C7","doi-asserted-by":"crossref","first-page":"299","DOI":"10.3928\/0191-3913-20030901-12","article-title":"Retinal features in Seckel's syndrome","volume":"40","author":"Erdol","year":"2003","journal-title":"J. Pediatr. Ophthalmol. Strabismus."},{"key":"key\n\t\t\t\t20170503072736_DDS563C8","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1038\/ng.420","article-title":"A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging","volume":"41","author":"Murga","year":"2009","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503072736_DDS563C9","doi-asserted-by":"crossref","first-page":"3649","DOI":"10.1073\/pnas.97.7.3649","article-title":"A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)","volume":"97","author":"Hong","year":"2000","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170503072736_DDS563C10","doi-asserted-by":"crossref","first-page":"4171","DOI":"10.1167\/iovs.03-0410","article-title":"RP1 is required for the correct stacking of outer segment discs","volume":"44","author":"Liu","year":"2003","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"key\n\t\t\t\t20170503072736_DDS563C11","doi-asserted-by":"crossref","first-page":"8664","DOI":"10.1073\/pnas.0402354101","article-title":"Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly","volume":"101","author":"Mykytyn","year":"2004","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170503072736_DDS563C12","doi-asserted-by":"crossref","first-page":"3067","DOI":"10.1038\/emboj.2009.281","article-title":"Emerging common themes in regulation of PIKKs and PI3Ks","volume":"28","author":"Lempiainen","year":"2009","journal-title":"EMBO J."},{"key":"key\n\t\t\t\t20170503072736_DDS563C13","doi-asserted-by":"crossref","first-page":"5775","DOI":"10.1038\/sj.emboj.7601446","article-title":"ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling","volume":"25","author":"Stiff","year":"2006","journal-title":"EMBO J."},{"key":"key\n\t\t\t\t20170503072736_DDS563C14","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/S0092-8674(00)80086-0","article-title":"Atm-deficient mice: a paradigm of ataxia telangiectasia","volume":"86","author":"Barlow","year":"1996","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170503072736_DDS563C15","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1016\/j.ajpath.2011.05.026","article-title":"A role for vascular deficiency in retinal pathology in a mouse model of ataxia-telangiectasia","volume":"179","author":"Raz-Prag","year":"2011","journal-title":"Am. J. Pathol."},{"key":"key\n\t\t\t\t20170503072736_DDS563C16","doi-asserted-by":"crossref","first-page":"3806","DOI":"10.1167\/iovs.07-1357","article-title":"ATM gene variants in patients with idiopathic perifoveal telangiectasia","volume":"49","author":"Barbazetto","year":"2008","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"key\n\t\t\t\t20170503072736_DDS563C17","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1242\/jcs.029397","article-title":"The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors","volume":"121","author":"Krock","year":"2008","journal-title":"J. Cell Sci."},{"key":"key\n\t\t\t\t20170503072736_DDS563C18","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1146\/annurev-neuro-060909-153227","article-title":"The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders","volume":"33","author":"Bramall","year":"2010","journal-title":"Annu. Rev. Neurosci."},{"key":"key\n\t\t\t\t20170503072736_DDS563C19","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1056\/NEJMra1010172","article-title":"Ciliopathies","volume":"364","author":"Hildebrandt","year":"2011","journal-title":"N. Engl. J. Med."},{"key":"key\n\t\t\t\t20170503072736_DDS563C20","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/ng.2007.80","article-title":"Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling","volume":"40","author":"Griffith","year":"2008","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503072736_DDS563C21","doi-asserted-by":"crossref","first-page":"e26496","DOI":"10.1371\/journal.pone.0026496","article-title":"The centrosomal protein pericentrin identified at the basal body complex of the connecting cilium in mouse photoreceptors","volume":"6","author":"Muhlhans","year":"2011","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170503072736_DDS563C22","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1002\/jcb.21195","article-title":"Centrosomal localization of DNA damage checkpoint proteins","volume":"101","author":"Zhang","year":"2007","journal-title":"J. Cell Biochem."},{"key":"key\n\t\t\t\t20170503072736_DDS563C23","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1016\/j.cell.2007.06.018","article-title":"The primary cilium: keeper of the key to cell division","volume":"129","author":"Pan","year":"2007","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170503072736_DDS563C24","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1126\/science.1140321","article-title":"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage","volume":"316","author":"Matsuoka","year":"2007","journal-title":"Science"},{"key":"key\n\t\t\t\t20170503072736_DDS563C25","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/0012-1606(88)90338-7","article-title":"Microtubule-associated proteins characteristic of embryonic brain are found in the adult mammalian retina","volume":"130","author":"Tucker","year":"1988","journal-title":"Dev. Biol."},{"key":"key\n\t\t\t\t20170503072736_DDS563C26","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1186\/gb-2004-6-1-204","article-title":"The MAP2\/Tau family of microtubule-associated proteins","volume":"6","author":"Dehmelt","year":"2005","journal-title":"Genome Biol."},{"key":"key\n\t\t\t\t20170503072736_DDS563C27","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/cm.20190","article-title":"Analysis of the weak interactions of ADP-Unc104 and ADP-kinesin with microtubules and their inhibition by MAP2c","volume":"64","author":"Al-Bassam","year":"2007","journal-title":"Cell Motil. Cytoskeleton"},{"key":"key\n\t\t\t\t20170503072736_DDS563C28","doi-asserted-by":"crossref","first-page":"22671","DOI":"10.1073\/pnas.1009437108","article-title":"Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival","volume":"107","author":"Omori","year":"2010","journal-title":"Proc. Natl Acad. Sci. USA"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/22\/8\/1507\/14140841\/dds563.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,8]],"date-time":"2019-07-08T02:43:54Z","timestamp":1562553834000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/dds563"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,7]]},"references-count":28,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2013,1,7]]},"published-print":{"date-parts":[[2013,4,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/dds563","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2013,1,7]]}}}