{"id":"https://openalex.org/W3011576847","doi":"https://doi.org/10.3390/cells9030771","title":"Selective Ablation of Dehydrodolichyl Diphosphate Synthase in Murine Retinal Pigment Epithelium (RPE) Causes RPE Atrophy and Retinal Degeneration","display_name":"Selective Ablation of Dehydrodolichyl Diphosphate Synthase in Murine Retinal Pigment Epithelium (RPE) Causes RPE Atrophy and Retinal Degeneration","publication_year":2020,"publication_date":"2020-03-21","ids":{"openalex":"https://openalex.org/W3011576847","doi":"https://doi.org/10.3390/cells9030771","mag":"3011576847","pmid":"https://pubmed.ncbi.nlm.nih.gov/32245241","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/7140717"},"language":"en","primary_location":{"id":"doi:10.3390/cells9030771","doi":"https://doi.org/10.3390/cells9030771","is_oa":true,"landing_page_url":"http://dx.doi.org/10.3390/cells9030771","pdf_url":"https://www.mdpi.com/2073-4409/9/3/771/pdf?version=1584790454","source":{"id":"https://openalex.org/S2736626452","display_name":"Cells","issn_l":"2073-4409","issn":["2073-4409"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cells","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/2073-4409/9/3/771/pdf?version=1584790454","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5043329667","display_name":"Marci L. DeRamus","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Marci L. DeRamus","raw_affiliation_strings":["Department of Optometry and Vision Science, Vision Science Research Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Optometry and Vision Science, Vision Science Research Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051509243","display_name":"Stephanie J. Davis","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stephanie J. Davis","raw_affiliation_strings":["Department of Optometry and Vision Science, Vision Science Research Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Optometry and Vision Science, Vision Science Research Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039367843","display_name":"Sriganesh Ramachandra Rao","orcid":"https://orcid.org/0000-0003-1029-1051","observed_orcids":["https://orcid.org/0000-0003-1029-1051"]},"institutions":[{"id":"https://openalex.org/I4210093236","display_name":"Buffalo VA Medical Center","ror":"https://ror.org/00jbkk316","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I2799886695","https://openalex.org/I4210093236","https://openalex.org/I4210094901","https://openalex.org/I4210095389"]},{"id":"https://openalex.org/I4210095389","display_name":"VA Western New York Healthcare System","ror":"https://ror.org/00a1c5n07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I2799886695","https://openalex.org/I4210094901","https://openalex.org/I4210095389"]},{"id":"https://openalex.org/I63190737","display_name":"University at Buffalo, State University of New York","ror":"https://ror.org/01y64my43","country_code":"US","type":"education","lineage":["https://openalex.org/I63190737"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sriganesh Ramachandra Rao","raw_affiliation_strings":["Departments of Ophthalmology and Biochemistry, State University of New York-University at Buffalo, Buffalo, NY 14209, USA; and Research Service, VA Western NY Healthcare System, Buffalo, NY 14215, USA","Research Service, VA Western NY Healthcare System, Buffalo, NY 14215, USA"],"raw_orcid":"https://orcid.org/0000-0003-1029-1051","affiliations":[{"raw_affiliation_string":"Departments of Ophthalmology and Biochemistry, State University of New York-University at Buffalo, Buffalo, NY 14209, USA; and Research Service, VA Western NY Healthcare System, Buffalo, NY 14215, USA","institution_ids":["https://openalex.org/I4210095389","https://openalex.org/I63190737"]},{"raw_affiliation_string":"Research Service, VA Western NY Healthcare System, Buffalo, NY 14215, USA","institution_ids":["https://openalex.org/I4210093236","https://openalex.org/I4210095389"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014192601","display_name":"Cyril N. A. Nyankerh","orcid":"https://orcid.org/0000-0003-3314-9920","observed_orcids":["https://orcid.org/0000-0003-3314-9920"]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cyril Nyankerh","raw_affiliation_strings":["Department of Optometry and Vision Science, Vision Science Research Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Optometry and Vision Science, Vision Science Research Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015659453","display_name":"Delores A. Stacks","orcid":"https://orcid.org/0000-0002-3824-0953","observed_orcids":["https://orcid.org/0000-0002-3824-0953"]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Delores Stacks","raw_affiliation_strings":["Department of Optometry and Vision Science, Vision Science Research Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Optometry and Vision Science, Vision Science Research Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011895076","display_name":"Timothy W. Kraft","orcid":"https://orcid.org/0000-0002-7904-9848","observed_orcids":["https://orcid.org/0000-0002-7904-9848"]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Timothy W. Kraft","raw_affiliation_strings":["Department of Optometry and Vision Science, Vision Science Research Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Optometry and Vision Science, Vision Science Research Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063284895","display_name":"Steven J. Fliesler","orcid":"https://orcid.org/0000-0002-2557-142X","observed_orcids":["https://orcid.org/0000-0002-2557-142X"]},"institutions":[{"id":"https://openalex.org/I4210093236","display_name":"Buffalo VA Medical Center","ror":"https://ror.org/00jbkk316","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I2799886695","https://openalex.org/I4210093236","https://openalex.org/I4210094901","https://openalex.org/I4210095389"]},{"id":"https://openalex.org/I4210095389","display_name":"VA Western New York Healthcare System","ror":"https://ror.org/00a1c5n07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I2799886695","https://openalex.org/I4210094901","https://openalex.org/I4210095389"]},{"id":"https://openalex.org/I63190737","display_name":"University at Buffalo, State University of New York","ror":"https://ror.org/01y64my43","country_code":"US","type":"education","lineage":["https://openalex.org/I63190737"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Steven J. Fliesler","raw_affiliation_strings":["Departments of Ophthalmology and Biochemistry, State University of New York-University at Buffalo, Buffalo, NY 14209, USA; and Research Service, VA Western NY Healthcare System, Buffalo, NY 14215, USA","Research Service, VA Western NY Healthcare System, Buffalo, NY 14215, USA"],"raw_orcid":"https://orcid.org/0000-0002-2557-142X","affiliations":[{"raw_affiliation_string":"Departments of Ophthalmology and Biochemistry, State University of New York-University at Buffalo, Buffalo, NY 14209, USA; and Research Service, VA Western NY Healthcare System, Buffalo, NY 14215, USA","institution_ids":["https://openalex.org/I4210095389","https://openalex.org/I63190737"]},{"raw_affiliation_string":"Research Service, VA Western NY Healthcare System, Buffalo, NY 14215, USA","institution_ids":["https://openalex.org/I4210093236","https://openalex.org/I4210095389"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5076644038","display_name":"Steven J. Pittler","orcid":"https://orcid.org/0000-0002-8464-9303","observed_orcids":["https://orcid.org/0000-0002-8464-9303"]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Steven J. Pittler","raw_affiliation_strings":["Department of Optometry and Vision Science, Vision Science Research Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA"],"raw_orcid":"https://orcid.org/0000-0002-8464-9303","affiliations":[{"raw_affiliation_string":"Department of Optometry and Vision Science, Vision Science Research Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA","institution_ids":["https://openalex.org/I32389192"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5076644038"],"corresponding_institution_ids":["https://openalex.org/I32389192"],"apc_list":{"value":2000,"currency":"CHF","value_usd":2112},"apc_paid":{"value":2000,"currency":"CHF","value_usd":2112},"fwci":1.996,"has_fulltext":true,"cited_by_count":11,"citation_normalized_percentile":{"value":0.84762236,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"9","issue":"3","first_page":"771","last_page":"771"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10170","display_name":"Retinal Diseases and Treatments","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/retinal-pigment-epithelium","display_name":"retinal pigment epithelium","score":0.9359999895095825},{"id":"https://openalex.org/keywords/retinal-degeneration","display_name":"retinal degeneration","score":0.8799999952316284},{"id":"https://openalex.org/keywords/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":0.953000009059906},{"id":"https://openalex.org/keywords/protein-glycosylation","display_name":"protein glycosylation","score":0.7580000162124634},{"id":"https://openalex.org/keywords/retinal-pigment-epithelium-atrophy","display_name":"retinal pigment epithelium atrophy","score":0.8629999756813049},{"id":"https://openalex.org/keywords/photoreceptor-loss","display_name":"photoreceptor loss","score":0.9279999732971191},{"id":"https://openalex.org/keywords/external-limiting-membrane","display_name":"external limiting membrane","score":0.7649999856948853},{"id":"https://openalex.org/keywords/electroretinography","display_name":"electroretinogram","score":0.8600000143051147},{"id":"https://openalex.org/keywords/mouse-model","display_name":"mouse model","score":0.3970000147819519}],"concepts":[{"id":"https://openalex.org/C2778024200","wikidata":"https://www.wikidata.org/wiki/Q2346242","display_name":"Retinal pigment epithelium","level":3,"score":0.8134288191795349},{"id":"https://openalex.org/C2781040256","wikidata":"https://www.wikidata.org/wiki/Q7316761","display_name":"Retinal degeneration","level":3,"score":0.7735209465026855},{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.768120527267456},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.7299785017967224},{"id":"https://openalex.org/C2777093970","wikidata":"https://www.wikidata.org/wiki/Q169342","display_name":"Retina","level":2,"score":0.6724186539649963},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6066941618919373},{"id":"https://openalex.org/C2779113765","wikidata":"https://www.wikidata.org/wiki/Q681562","display_name":"Electroretinography","level":3,"score":0.4810193181037903},{"id":"https://openalex.org/C47870650","wikidata":"https://www.wikidata.org/wiki/Q4682229","display_name":"Gene therapy of the human retina","level":4,"score":0.4656178951263428},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4567784368991852},{"id":"https://openalex.org/C2778231335","wikidata":"https://www.wikidata.org/wiki/Q4113701","display_name":"Outer nuclear layer","level":3,"score":0.42578965425491333},{"id":"https://openalex.org/C2776403814","wikidata":"https://www.wikidata.org/wiki/Q27429789","display_name":"Macular degeneration","level":2,"score":0.42422330379486084},{"id":"https://openalex.org/C2778561011","wikidata":"https://www.wikidata.org/wiki/Q4113807","display_name":"Inner limiting membrane","level":3,"score":0.4154170751571655},{"id":"https://openalex.org/C2780916184","wikidata":"https://www.wikidata.org/wiki/Q748049","display_name":"Photoreceptor cell","level":3,"score":0.4138745665550232},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.34285682439804077},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.24996235966682434},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.1921229362487793},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.16878816485404968},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.1041046679019928}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001284","descriptor_name":"Atrophy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004596","descriptor_name":"Electroretinography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008810","descriptor_name":"Mice, Inbred C57BL","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012162","descriptor_name":"Retinal Degeneration","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D012162","descriptor_name":"Retinal Degeneration","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D012162","descriptor_name":"Retinal Degeneration","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018345","descriptor_name":"Mice, Knockout","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019426","descriptor_name":"Integrases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D019883","descriptor_name":"Alkyl and Aryl Transferases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D020419","descriptor_name":"Photoreceptor Cells, Vertebrate","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D041623","descriptor_name":"Tomography, Optical Coherence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055213","descriptor_name":"Retinal Pigment Epithelium","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D055213","descriptor_name":"Retinal Pigment Epithelium","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D055213","descriptor_name":"Retinal Pigment Epithelium","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D055213","descriptor_name":"Retinal Pigment Epithelium","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D055253","descriptor_name":"Color Vision","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055254","descriptor_name":"Night Vision","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.3390/cells9030771","doi":"https://doi.org/10.3390/cells9030771","is_oa":true,"landing_page_url":"http://dx.doi.org/10.3390/cells9030771","pdf_url":"https://www.mdpi.com/2073-4409/9/3/771/pdf?version=1584790454","source":{"id":"https://openalex.org/S2736626452","display_name":"Cells","issn_l":"2073-4409","issn":["2073-4409"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cells","raw_type":"journal-article"},{"id":"pmid:32245241","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32245241","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cells","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:7140717","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC7140717/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cells","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:27ad3692be444ef98b2d6b802ae89ee6","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/27ad3692be444ef98b2d6b802ae89ee6","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Cells, Vol 9, Iss 3, p 771 (2020)","raw_type":"article"},{"id":"pmh:oai:zenodo.org:3670953","doi":null,"is_oa":true,"landing_page_url":"https://zenodo.org/record/3670953","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/other"},{"id":"doi:10.5281/zenodo.3670952","doi":"https://doi.org/10.5281/zenodo.3670952","is_oa":true,"landing_page_url":"https://doi.org/10.5281/zenodo.3670952","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Audiovisual"},{"id":"doi:10.5281/zenodo.3670953","doi":"https://doi.org/10.5281/zenodo.3670953","is_oa":true,"landing_page_url":"https://doi.org/10.5281/zenodo.3670953","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Audiovisual"}],"best_oa_location":{"id":"doi:10.3390/cells9030771","doi":"https://doi.org/10.3390/cells9030771","is_oa":true,"landing_page_url":"http://dx.doi.org/10.3390/cells9030771","pdf_url":"https://www.mdpi.com/2073-4409/9/3/771/pdf?version=1584790454","source":{"id":"https://openalex.org/S2736626452","display_name":"Cells","issn_l":"2073-4409","issn":["2073-4409"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cells","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G3090315813","display_name":"Development and characterization of mouse models of RP59 DHDDS deficiency","funder_award_id":"R01EY029341","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G9000873022","display_name":"UAB Core Grant for Vision Research","funder_award_id":"P30EY003039","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"}],"funders":[{"id":"https://openalex.org/F4320306497","display_name":"Roswell Park Cancer Institute","ror":"https://ror.org/0499dwk57"},{"id":"https://openalex.org/F4320310179","display_name":"University of Oklahoma","ror":"https://ror.org/02aqsxs83"},{"id":"https://openalex.org/F4320332607","display_name":"University of Oklahoma Health Sciences Center","ror":"https://ror.org/0457zbj98"},{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3011576847.pdf","grobid_xml":"https://content.openalex.org/works/W3011576847.grobid-xml"},"referenced_works_count":31,"referenced_works":["https://openalex.org/W136637539","https://openalex.org/W160471267","https://openalex.org/W1586442097","https://openalex.org/W1970286448","https://openalex.org/W1985079240","https://openalex.org/W1990512386","https://openalex.org/W2016648084","https://openalex.org/W2019980431","https://openalex.org/W2021163002","https://openalex.org/W2022733683","https://openalex.org/W2030839014","https://openalex.org/W2054432331","https://openalex.org/W2055166427","https://openalex.org/W2083062636","https://openalex.org/W2091515229","https://openalex.org/W2093498435","https://openalex.org/W2094572432","https://openalex.org/W2106947018","https://openalex.org/W2153282442","https://openalex.org/W2156561022","https://openalex.org/W2168345599","https://openalex.org/W2440708474","https://openalex.org/W2462104816","https://openalex.org/W2472606679","https://openalex.org/W2523178255","https://openalex.org/W2580098324","https://openalex.org/W2585809251","https://openalex.org/W2588646037","https://openalex.org/W2777440024","https://openalex.org/W2794565736","https://openalex.org/W3014310877"],"related_works":["https://openalex.org/W3214972596","https://openalex.org/W3027724936","https://openalex.org/W3184006565","https://openalex.org/W4411709284","https://openalex.org/W2091515229","https://openalex.org/W4406475786","https://openalex.org/W4384202159","https://openalex.org/W3014310877","https://openalex.org/W160471267","https://openalex.org/W4255700118"],"abstract_inverted_index":{"Patients":[0],"with":[1,55,80,175],"certain":[2,56],"defects":[3],"in":[4,105,117],"the":[5,48,60,68,100,103,106,111,145,153,161],"dehydrodolichyl":[6],"diphosphate":[7],"synthase":[8],"(DHDDS)":[9],"gene":[10],"(RP59;":[11],"OMIM":[12],"#613861)":[13],"exhibit":[14],"classic":[15],"symptoms":[16],"of":[17,26,41,62,70,89,102,110,166,184,213],"retinitis":[18],"pigmentosa,":[19],"as":[20,22,147,149],"well":[21,148],"macular":[23],"changes,":[24],"suggestive":[25],"retinal":[27,73,119],"pigment":[28],"epithelium":[29],"(RPE)":[30],"involvement.":[31],"The":[32],"DHDDS":[33,57,200],"enzyme":[34,104],"is":[35],"ubiquitously":[36],"required":[37],"for":[38,50],"several":[39],"pathways":[40],"protein":[42],"glycosylation.":[43,214],"We":[44,93],"wish":[45],"to":[46,67,98,199],"understand":[47],"basis":[49],"selective":[51],"ocular":[52,64],"pathology":[53,69,202],"associated":[54,79],"mutations":[58],"and":[59,113,124,138,163,181,186,203],"contribution":[61],"specific":[63],"cell":[65,121],"types":[66],"mutant":[71],"Dhdds-mediated":[72],"degeneration.":[74],"To":[75],"circumvent":[76],"embryonic":[77],"lethality":[78],"Dhdds":[81,91],"knockout,":[82],"we":[83],"generated":[84],"a":[85,205],"Cre-dependent":[86],"knockout":[87],"allele":[88],"murine":[90],"(Dhddsflx/flx).":[92],"used":[94],"targeted":[95],"Cre":[96],"expression":[97],"study":[99],"importance":[101],"RPE.":[107],"Structural":[108],"alterations":[109],"RPE":[112,126,137,150,196],"retina":[114,146],"including":[115],"reduction":[116],"outer":[118],"thickness,":[120],"layer":[122],"disruption,":[123],"increased":[125],"hyper-reflectivity":[127],"were":[128],"apparent":[129],"at":[130,189],"one":[131],"postnatal":[132],"month.":[133],"At":[134],"three":[135,190],"months,":[136],"photoreceptor":[139,154],"disruption":[140,212],"was":[141,173],"observed":[142],"non-uniformly":[143],"across":[144],"transmigration":[151],"into":[152],"layer,":[155],"external":[156],"limiting":[157],"membrane":[158],"descent":[159],"towards":[160],"RPE,":[162],"patchy":[164],"loss":[165,169,177],"photoreceptors.":[167],"Functional":[168],"measured":[170],"by":[171],"electroretinography":[172],"consistent":[174],"structural":[176],"showing":[178],"scotopic":[179],"a-":[180],"b-wave":[182],"reductions":[183],"83%":[185],"77%,":[187],"respectively,":[188],"months.":[191],"These":[192],"results":[193],"indicate":[194],"that":[195],"dysfunction":[197],"contributes":[198],"mutation-mediated":[201],"suggests":[204],"more":[206],"complicated":[207],"disease":[208],"mechanism":[209],"than":[210],"simply":[211]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2020-03-23T00:00:00"}
