{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T06:02:46Z","timestamp":1784872966533,"version":"3.55.0"},"reference-count":73,"publisher":"Oxford University Press (OUP)","issue":"3-4","license":[{"start":{"date-parts":[[2021,1,30]],"date-time":"2021-01-30T00:00:00Z","timestamp":1611964800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1R01DK109398-01"],"award-info":[{"award-number":["1R01DK109398-01"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01GM123055"],"award-info":[{"award-number":["R01GM123055"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Clinical Translational Science Institute","award":["106564\/8000063783"],"award-info":[{"award-number":["106564\/8000063783"]}]},{"DOI":"10.13039\/100003925","name":"Lowe Syndrome Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008982","name":"National Science Foundation","doi-asserted-by":"publisher","award":["DMS1614777"],"award-info":[{"award-number":["DMS1614777"]}],"id":[{"id":"10.13039\/501100008982","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008982","name":"National Science Foundation","doi-asserted-by":"publisher","award":["CMMI1825941"],"award-info":[{"award-number":["CMMI1825941"]}],"id":[{"id":"10.13039\/501100008982","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008982","name":"National Science Foundation","doi-asserted-by":"publisher","award":["MCB1925643"],"award-info":[{"award-number":["MCB1925643"]}],"id":[{"id":"10.13039\/501100008982","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008982","name":"National Science Foundation","doi-asserted-by":"publisher","award":["DBI2003635"],"award-info":[{"award-number":["DBI2003635"]}],"id":[{"id":"10.13039\/501100008982","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,4,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Lowe Syndrome (LS) is a lethal genetic disorder caused by mutations in the OCRL1 gene which encodes the lipid 5\u2032 phosphatase Ocrl1. Patients exhibit a characteristic triad of symptoms including eye, brain and kidney abnormalities with renal failure as the most common cause of premature death. Over 200 OCRL1 mutations have been identified in LS, but their specific impact on cellular processes is unknown. Despite observations of heterogeneity in patient symptom severity, there is little understanding of the correlation between genotype and its impact on phenotype.<\/jats:p>\n                  <jats:p>Here, we show that different mutations had diverse effects on protein localization and on triggering LS cellular phenotypes. In addition, some mutations affecting specific domains imparted unique characteristics to the resulting mutated protein. We also propose that certain mutations conformationally affect the 5\u2032-phosphatase domain of the protein, resulting in loss of enzymatic activity and causing common and specific phenotypes (a conformational disease scenario).<\/jats:p>\n                  <jats:p>This study is the first to show the differential effect of patient 5\u2032-phosphatase mutations on cellular phenotypes and introduces a conformational disease component in LS. This work provides a framework that explains symptom heterogeneity and can help stratify patients as well as to produce a more accurate prognosis depending on the nature and location of the mutation within the OCRL1 gene.<\/jats:p>","DOI":"10.1093\/hmg\/ddab025","type":"journal-article","created":{"date-parts":[[2021,1,14]],"date-time":"2021-01-14T08:45:31Z","timestamp":1610613931000},"page":"198-212","source":"Crossref","is-referenced-by-count":16,"title":["Genotype &amp; phenotype in Lowe Syndrome: specific\n                    <i>OCRL1<\/i>\n                    patient mutations differentially impact cellular phenotypes"],"prefix":"10.1093","volume":"30","author":[{"given":"Swetha","family":"Ramadesikan","sequence":"first","affiliation":[{"name":"Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisette","family":"Skiba","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayalvizhi","family":"Madhivanan","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daipayan","family":"Sarkar","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agustina","family":"De La Fuente","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia B","family":"Hanna","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genki","family":"Terashi","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tony","family":"Hazbun","sequence":"additional","affiliation":[{"name":"Department of Medicinal Chemistry and Molecular Pharmacology, Purdue University, West Lafayette, IN 47907, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Kihara","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA"},{"name":"Department of Computer Science, Purdue University, West Lafayette, IN 47907, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5623-0073","authenticated-orcid":false,"given":"R Claudio","family":"Aguilar","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,1,30]]},"reference":[{"key":"2021050309030149100_ref1","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1038\/358239a0","article-title":"The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase","volume":"358","author":"Attree","year":"1992","journal-title":"Nature"},{"key":"2021050309030149100_ref2","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-1-16","article-title":"Lowe syndrome","volume":"1","author":"Loi","year":"2006","journal-title":"Orphanet J. Rare Dis."},{"key":"2021050309030149100_ref3","first-page":"164","article-title":"Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity","volume":"83","author":"Lowe","year":"1952","journal-title":"A.M.A. Am. J. Dis. Child."},{"key":"2021050309030149100_ref4","doi-asserted-by":"crossref","first-page":"2201","DOI":"10.1007\/s00467-016-3343-3","article-title":"The oculocerebrorenal syndrome of Lowe: an update","volume":"31","author":"B\u00f6kenkamp","year":"2016","journal-title":"Pediatr. Nephrol."},{"key":"2021050309030149100_ref5","doi-asserted-by":"crossref","first-page":"4853","DOI":"10.1073\/pnas.92.11.4853","article-title":"The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase","volume":"92","author":"Zhang","year":"1995","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2021050309030149100_ref6","doi-asserted-by":"crossref","first-page":"2245","DOI":"10.1093\/hmg\/4.12.2245","article-title":"Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus","volume":"4","author":"Suchy","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"2021050309030149100_ref7","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1177\/002215540004800203","article-title":"Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells","volume":"48","author":"Dressman","year":"2000","journal-title":"J. Histochem. Cytochem."},{"key":"2021050309030149100_ref8","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.devcel.2007.08.004","article-title":"A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway","volume":"13","author":"Erdmann","year":"2007","journal-title":"Dev. Cell"},{"key":"2021050309030149100_ref9","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1093\/hmg\/ddi153","article-title":"Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology","volume":"14","author":"Faucherre","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"2021050309030149100_ref10","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.1038\/emboj.2009.155","article-title":"A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism","volume":"28","author":"Mao","year":"2009","journal-title":"EMBO J."},{"key":"2021050309030149100_ref11","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1093\/bioinformatics\/btl022","article-title":"A novel domain suggests a ciliary function for ASPM, a brain size determining gene","volume":"22","author":"Ponting","year":"2006","journal-title":"Bioinformatics"},{"key":"2021050309030149100_ref12","doi-asserted-by":"crossref","first-page":"4478","DOI":"10.1093\/hmg\/ddp407","article-title":"Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase","volume":"18","author":"Coon","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"2021050309030149100_ref13","doi-asserted-by":"crossref","first-page":"1420","DOI":"10.1086\/344517","article-title":"The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization","volume":"71","author":"Suchy","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"2021050309030149100_ref14","doi-asserted-by":"crossref","first-page":"4970","DOI":"10.1038\/emboj.2011.354","article-title":"OCRL controls trafficking through early endosomes via PtdIns4,5P(2)-dependent regulation of endosomal actin","volume":"30","author":"Vicinanza","year":"2011","journal-title":"EMBO J."},{"key":"2021050309030149100_ref15","doi-asserted-by":"crossref","first-page":"1835","DOI":"10.1093\/hmg\/ddr615","article-title":"The Lowe syndrome protein OCRL1 is involved in primary cilia assembly","volume":"21","author":"Coon","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"2021050309030149100_ref16","doi-asserted-by":"crossref","first-page":"3467","DOI":"10.1091\/mbc.e05-02-0120","article-title":"Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network","volume":"16","author":"Choudhury","year":"2005","journal-title":"Mol. Biol. Cell"},{"key":"2021050309030149100_ref17","doi-asserted-by":"crossref","first-page":"5019","DOI":"10.1093\/hmg\/dds343","article-title":"The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module","volume":"21","author":"Rahden","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"2021050309030149100_ref18","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1038\/ncb2279","article-title":"Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis","volume":"13","author":"Dambournet","year":"2011","journal-title":"Nat. Cell Biol."},{"key":"2021050309030149100_ref19","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1016\/j.cub.2011.05.030","article-title":"The inositol 5-phosphatase dOCRL controls PI(4,5)P2 homeostasis and is necessary for cytokinesis","volume":"21","author":"El Kadhi","year":"2011","journal-title":"Curr. Biol."},{"key":"2021050309030149100_ref20","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1091\/mbc.e10-08-0730","article-title":"The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway","volume":"22","author":"Noakes","year":"2011","journal-title":"Mol. Biol. Cell"},{"key":"2021050309030149100_ref21","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1091\/mbc.e11-06-0489","article-title":"Recruitment of OCRL and Inpp5B to phagosomes by Rab5 and APPL1 depletes phosphoinositides and attenuates Akt signaling","volume":"23","author":"Bohdanowicz","year":"2012","journal-title":"Mol. Biol. Cell"},{"key":"2021050309030149100_ref22","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1016\/j.devcel.2012.09.021","article-title":"The NF-kappa B Signaling protein Bcl10 regulates actin dynamics by controlling AP1 and OCRL-bearing vesicles","volume":"23","author":"Marion","year":"2012","journal-title":"Dev. Cell"},{"key":"2021050309030149100_ref23","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1002\/humu.21391","article-title":"From Lowe syndrome to dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes","volume":"32","author":"Hichri","year":"2011","journal-title":"Hum. Mutat."},{"key":"2021050309030149100_ref24","doi-asserted-by":"crossref","first-page":"18670","DOI":"10.3390\/ijms140918670","article-title":"Human diseases associated with form and function of the Golgi complex","volume":"14","author":"Bexiga","year":"2013","journal-title":"Int. J. Mol. Sci."},{"key":"2021050309030149100_ref25","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.tice.2016.11.007","article-title":"Alterations of Golgi organization in Alzheimer's disease: a cause or a consequence?","volume":"49","author":"Ayala","year":"2017","journal-title":"Tissue Cell"},{"key":"2021050309030149100_ref26","doi-asserted-by":"crossref","first-page":"748","DOI":"10.3390\/cells8070748","article-title":"Golgi fragmentation in neurodegenerative diseases: is there a common cause?","volume":"8","author":"Mart\u00ednez-Men\u00e1rguez","year":"2019","journal-title":"Cell"},{"key":"2021050309030149100_ref27","doi-asserted-by":"crossref","first-page":"942.e941","DOI":"10.1053\/j.ajkd.2006.08.018","article-title":"Novel OCRL1 mutations in patients with the phenotype of dent disease","volume":"48","author":"Utsch","year":"2006","journal-title":"Am. J. Kidney Dis."},{"key":"2021050309030149100_ref28","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1086\/515471","article-title":"Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome","volume":"60","author":"Lin","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"2021050309030149100_ref29","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1006\/mgme.1998.2687","article-title":"Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients","volume":"64","author":"Lin","year":"1998","journal-title":"Mol. Genet. Metab."},{"key":"2021050309030149100_ref30","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.ymgme.2006.04.005","article-title":"The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function","volume":"89","author":"Lichter-Konecki","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"2021050309030149100_ref31","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1159\/000213506","article-title":"OCRL1 mutations in dent 2 patients suggest a mechanism for phenotypic variability","volume":"112","author":"Shrimpton","year":"2009","journal-title":"Nephron Physiol."},{"key":"2021050309030149100_ref32","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/j.ijdevneu.2008.05.006","article-title":"Golgi apparatus and neurodegenerative diseases","volume":"26","author":"Fan","year":"2008","journal-title":"Int. J. Dev. Neurosci."},{"key":"2021050309030149100_ref33","doi-asserted-by":"crossref","first-page":"75","DOI":"10.3389\/fcell.2019.00075","article-title":"Golgi complex dynamics and its implication in prevalent neurological disorders","volume":"7","author":"Caracci","year":"2019","journal-title":"Front. Cell Dev. Biol."},{"key":"2021050309030149100_ref34","doi-asserted-by":"crossref","first-page":"1726","DOI":"10.1681\/ASN.V2121726","article-title":"Altered synthesis and intracellular transport of proteoglycans by cyst-derived cells from human polycystic kidneys","volume":"2","author":"Jin","year":"1992","journal-title":"J. Am. Soc. Nephrol."},{"key":"2021050309030149100_ref35","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1034\/j.1600-0854.2000.010811.x","article-title":"ADPKD: a human disease altering Golgi function and basolateral exocytosis in renal epithelia","volume":"1","author":"Charron","year":"2000","journal-title":"Traffic"},{"key":"2021050309030149100_ref36","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1681\/ASN.2013101060","article-title":"Modulation of the secretory pathway rescues zebrafish polycystic kidney disease pathology","volume":"25","author":"Le Corre","year":"2014","journal-title":"J. Am. Soc. Nephrol."},{"key":"2021050309030149100_ref37","doi-asserted-by":"crossref","first-page":"37055","DOI":"10.1074\/jbc.M006244200","article-title":"The inositol polyphosphate 5-phosphatases and the apurinic\/apyrimidinic base excision repair endonucleases share a common mechanism for catalysis","volume":"275","author":"Whisstock","year":"2000","journal-title":"J. Biol. Chem."},{"key":"2021050309030149100_ref38","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/S0092-8674(01)00326-9","article-title":"Specificity determinants in phosphoinositide dephosphorylation: crystal structure of an archetypal inositol polyphosphate 5-phosphatase","volume":"105","author":"Tsujishita","year":"2001","journal-title":"Cell"},{"key":"2021050309030149100_ref39","first-page":"744","volume-title":"Structure","author":"Tresaugues","year":"2014"},{"key":"2021050309030149100_ref40","doi-asserted-by":"crossref","first-page":"7890","DOI":"10.1021\/bi9602627","article-title":"Mutation of the conserved domains of two inositol polyphosphate 5-phosphatases","volume":"35","author":"Jefferson","year":"1996","journal-title":"Biochemistry"},{"key":"2021050309030149100_ref41","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1021\/acs.biochem.5b00838","article-title":"Crystal structures of type-II inositol polyphosphate 5-phosphatase INPP5B with synthetic inositol polyphosphate surrogates reveal new mechanistic insights for the inositol 5-phosphatase family","volume":"55","author":"Mills","year":"2016","journal-title":"Biochemistry"},{"key":"2021050309030149100_ref42","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/j.tibs.2012.01.002","article-title":"Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL","volume":"37","author":"Pirruccello","year":"2012","journal-title":"Trends Biochem. Sci."},{"key":"2021050309030149100_ref43","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/nsmb.2071","article-title":"Recognition of the F&H motif by the Lowe syndrome protein OCRL","volume":"18","author":"Pirruccello","year":"2011","journal-title":"Nat. Struct. Mol. Biol."},{"key":"2021050309030149100_ref44","doi-asserted-by":"crossref","first-page":"1295","DOI":"10.1111\/j.1600-0854.2012.01387.x","article-title":"OCRL1 modulates cilia length in renal epithelial cells","volume":"13","author":"Rbaibi","year":"2012","journal-title":"Traffic"},{"key":"2021050309030149100_ref45","doi-asserted-by":"crossref","first-page":"3333","DOI":"10.1093\/hmg\/dds163","article-title":"OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome","volume":"21","author":"Luo","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"2021050309030149100_ref46","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1093\/hmg\/ddaa086","article-title":"Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins","volume":"29","author":"Madhivanan","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"2021050309030149100_ref47","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1007\/s00335-010-9281-7","article-title":"Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe syndrome","volume":"21","author":"Bothwell","year":"2010","journal-title":"Mamm. Genome"},{"key":"2021050309030149100_ref48","doi-asserted-by":"crossref","first-page":"2042","DOI":"10.1172\/JCI2414","article-title":"Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice","volume":"101","author":"Janne","year":"1998","journal-title":"J. Clin. Investig."},{"key":"2021050309030149100_ref49","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1093\/hmg\/2.4.461","article-title":"Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe","volume":"2","author":"Leahey","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"2021050309030149100_ref50","doi-asserted-by":"crossref","first-page":"3750","DOI":"10.1038\/sj.emboj.7601274","article-title":"Membrane targeting and activation of the Lowe syndrome protein OCRL1 by Rab GTPases","volume":"25","author":"Hyvola","year":"2006","journal-title":"EMBO J."},{"key":"2021050309030149100_ref51","doi-asserted-by":"crossref","first-page":"107","DOI":"10.4161\/sgtp.19380","article-title":"Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1\/Rab8 module for Lowe syndrome","volume":"3","author":"Hagemann","year":"2012","journal-title":"Small GTPases"},{"key":"2021050309030149100_ref52","doi-asserted-by":"crossref","first-page":"1659","DOI":"10.1038\/emboj.2011.60","article-title":"A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1","volume":"30","author":"Hou","year":"2011","journal-title":"EMBO J."},{"key":"2021050309030149100_ref53","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.bbrc.2008.02.067","article-title":"All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding","volume":"369","author":"McCrea","year":"2008","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"2021050309030149100_ref54","doi-asserted-by":"crossref","first-page":"2124","DOI":"10.1080\/15384101.2016.1196306","article-title":"The benefits of local depletion: the centrosome as a scaffold for ubiquitin-proteasome-mediated degradation","volume":"15","author":"Vora","year":"2016","journal-title":"Cell Cycle"},{"key":"2021050309030149100_ref55","doi-asserted-by":"crossref","first-page":"15730","DOI":"10.1038\/ncomms15730","article-title":"Misfolded polypeptides are selectively recognized and transported toward aggresomes by a CED complex","volume":"8","author":"Park","year":"2017","journal-title":"Nat. Commun."},{"key":"2021050309030149100_ref56","doi-asserted-by":"crossref","first-page":"47","DOI":"10.2174\/092986708783330692","article-title":"Aggresome formation and neurodegenerative diseases: therapeutic implications","volume":"15","author":"Olzmann","year":"2008","journal-title":"Curr. Med. Chem."},{"key":"2021050309030149100_ref57","doi-asserted-by":"crossref","first-page":"1883","DOI":"10.1083\/jcb.143.7.1883","article-title":"Aggresomes: a cellular response to misfolded proteins","volume":"143","author":"Johnston","year":"1998","journal-title":"J. Cell Biol."},{"key":"2021050309030149100_ref58","doi-asserted-by":"crossref","first-page":"2953","DOI":"10.1074\/jbc.274.5.2953","article-title":"Identification and characterization of golgin-84, a novel Golgi integral membrane protein with a cytoplasmic coiled-coil domain","volume":"274","author":"Bascom","year":"1999","journal-title":"J. Biol. Chem."},{"key":"2021050309030149100_ref59","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1016\/j.neurobiolaging.2013.11.022","article-title":"Golgin-84-associated Golgi fragmentation triggers tau hyperphosphorylation by activation of cyclin-dependent kinase-5 and extracellular signal-regulated kinase","volume":"35","author":"Jiang","year":"2014","journal-title":"Neurobiol. Aging"},{"key":"2021050309030149100_ref60","doi-asserted-by":"crossref","first-page":"a005256","DOI":"10.1101\/cshperspect.a005256","article-title":"The golgin coiled-coil proteins of the Golgi apparatus","volume":"3","author":"Munro","year":"2011","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"2021050309030149100_ref61","doi-asserted-by":"crossref","first-page":"1552","DOI":"10.1111\/j.1600-0854.2010.01123.x","article-title":"Interaction of Golgin-84 with the COG complex mediates the intra-Golgi retrograde transport","volume":"11","author":"Sohda","year":"2010","journal-title":"Traffic"},{"key":"2021050309030149100_ref62","doi-asserted-by":"crossref","first-page":"E207","DOI":"10.1038\/35041139","article-title":"Conformational disease","volume":"2","author":"Kopito","year":"2000","journal-title":"Nat. Cell Biol."},{"key":"2021050309030149100_ref63","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/S0962-8924(00)01852-3","article-title":"Aggresomes, inclusion bodies and protein aggregation","volume":"10","author":"Kopito","year":"2000","journal-title":"Trends Cell Biol."},{"key":"2021050309030149100_ref64","doi-asserted-by":"crossref","first-page":"e0192635","DOI":"10.1371\/journal.pone.0192635","article-title":"Kidney-differentiated cells derived from Lowe syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex","volume":"13","author":"Hsieh","year":"2018","journal-title":"PLoS One"},{"key":"2021050309030149100_ref65","doi-asserted-by":"crossref","first-page":"e26640","DOI":"10.7554\/eLife.26640","article-title":"Structural basis for interdomain communication in SHIP2 providing high phosphatase activity","volume":"6","author":"Le Coq","year":"2017","journal-title":"Elife"},{"key":"2021050309030149100_ref66","doi-asserted-by":"crossref","first-page":"e880","DOI":"10.1371\/journal.pone.0000880","article-title":"Automated builder and database of protein\/membrane complexes for molecular dynamics simulations","volume":"2","author":"Jo","year":"2007","journal-title":"PLoS One"},{"key":"2021050309030149100_ref67","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1021\/acs.jctc.8b01066","article-title":"CHARMM-GUI membrane builder for complex biological membrane simulations with glycolipids and Lipoglycans","volume":"15","author":"Lee","year":"2019","journal-title":"J. Chem. Theory Comput."},{"key":"2021050309030149100_ref68","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/0263-7855(96)00018-5","article-title":"VMD: visual molecular dynamics","volume":"14","author":"Humphrey","year":"1996","journal-title":"J. Mol. Graph."},{"key":"2021050309030149100_ref69","doi-asserted-by":"crossref","first-page":"044130","DOI":"10.1063\/5.0014475","article-title":"Scalable molecular dynamics on CPU and GPU architectures with NAMD","volume":"153","author":"Phillips","year":"2020","journal-title":"J. Chem. Phys."},{"key":"2021050309030149100_ref70","doi-asserted-by":"crossref","first-page":"3257","DOI":"10.1021\/ct300400x","article-title":"Optimization of the additive CHARMM all-atom protein force field targeting improved sampling of the backbone \u03c6, \u03c8 and side-chain \u03c7(1) and \u03c7(2) dihedral angles","volume":"8","author":"Best","year":"2012","journal-title":"J. Chem. Theory Comput."},{"key":"2021050309030149100_ref71","doi-asserted-by":"crossref","first-page":"8577","DOI":"10.1063\/1.470117","article-title":"A smooth particle mesh Ewald method","volume":"103","author":"Essmann","year":"1995","journal-title":"J. Chem. Phys."},{"key":"2021050309030149100_ref72","doi-asserted-by":"crossref","first-page":"4177","DOI":"10.1063\/1.467468","article-title":"Constant pressure molecular dynamics algorithms","volume":"101","author":"Martyna","year":"1994","journal-title":"J. Chem. Phys."},{"key":"2021050309030149100_ref73","doi-asserted-by":"crossref","first-page":"e1002128","DOI":"10.1371\/journal.pbio.1002128","article-title":"Beyond bar and line graphs: time for a new data presentation paradigm","volume":"13","author":"Weissgerber","year":"2015","journal-title":"PLoS Biol."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddab025\/36389380\/ddab025.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/30\/3-4\/198\/37771913\/ddab025.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/30\/3-4\/198\/37771913\/ddab025.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,11]],"date-time":"2022-12-11T10:45:27Z","timestamp":1670755527000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/30\/3-4\/198\/6124514"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,30]]},"references-count":73,"journal-issue":{"issue":"3-4","published-online":{"date-parts":[[2021,1,30]]},"published-print":{"date-parts":[[2021,4,26]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddab025","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2020.08.04.236612","asserted-by":"object"}]},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,2,1]]},"published":{"date-parts":[[2021,1,30]]}}}