{"id":"https://openalex.org/W4411709284","doi":"https://doi.org/10.1242/dmm.052243","title":"Dhdds T206A and Dhdds K42E knock-in mouse models of retinitis pigmentosa 59 are phenotypically similar","display_name":"Dhdds T206A and Dhdds K42E knock-in mouse models of retinitis pigmentosa 59 are phenotypically similar","publication_year":2025,"publication_date":"2025-06-27","ids":{"openalex":"https://openalex.org/W4411709284","doi":"https://doi.org/10.1242/dmm.052243","pmid":"https://pubmed.ncbi.nlm.nih.gov/39868263","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11761419"},"language":"en","primary_location":{"id":"doi:10.1242/dmm.052243","doi":"https://doi.org/10.1242/dmm.052243","is_oa":true,"landing_page_url":"https://doi.org/10.1242/dmm.052243","pdf_url":"https://journals.biologists.com/dmm/article-pdf/doi/10.1242/dmm.052243/3654229/dmm052243.pdf","source":{"id":"https://openalex.org/S45087425","display_name":"Disease Models & Mechanisms","issn_l":"1754-8403","issn":["1754-8403","1754-8411"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311847","host_organization_name":"The Company of Biologists","host_organization_lineage":["https://openalex.org/P4310311847"],"host_organization_lineage_names":["The Company of Biologists"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Disease Models &amp; Mechanisms","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.biologists.com/dmm/article-pdf/doi/10.1242/dmm.052243/3654229/dmm052243.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5068845476","display_name":"Mai Nguyen","orcid":"https://orcid.org/0000-0001-5349-7880","observed_orcids":["https://orcid.org/0000-0001-5349-7880"]},"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":"Mai N. Nguyen","raw_affiliation_strings":["Vision Science Research Center, School of Optometry, University of Alabama at Birmingham 1 Department of Optometry and Vision Science , , Birmingham, AL 35294 ,"],"raw_orcid":"https://orcid.org/0000-0001-5349-7880","affiliations":[{"raw_affiliation_string":"Vision Science Research Center, School of Optometry, University of Alabama at Birmingham 1 Department of Optometry and Vision Science , , Birmingham, AL 35294 ,","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103111204","display_name":"Dibyendu Chakraborty","orcid":"https://orcid.org/0000-0003-3934-3249","observed_orcids":["https://orcid.org/0000-0003-3934-3249"]},"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":"Dibyendu Chakraborty","raw_affiliation_strings":["Vision Science Research Center, School of Optometry, University of Alabama at Birmingham 1 Department of Optometry and Vision Science , , Birmingham, AL 35294 ,"],"raw_orcid":"https://orcid.org/0000-0003-3934-3249","affiliations":[{"raw_affiliation_string":"Vision Science Research Center, School of Optometry, University of Alabama at Birmingham 1 Department of Optometry and Vision Science , , Birmingham, AL 35294 ,","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059887479","display_name":"Jeffrey D. Messinger","orcid":"https://orcid.org/0000-0002-5975-3862","observed_orcids":["https://orcid.org/0000-0002-5975-3862","https://orcid.org/0009-0000-2002-5676"]},"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":"Jeffrey Messinger","raw_affiliation_strings":["Vision Science Research Center, School of Optometry, University of Alabama at Birmingham 1 Department of Optometry and Vision Science , , Birmingham, AL 35294 ,"],"raw_orcid":"https://orcid.org/0000-0002-5975-3862","affiliations":[{"raw_affiliation_string":"Vision Science Research Center, School of Optometry, University of Alabama at Birmingham 1 Department of Optometry and Vision Science , , Birmingham, AL 35294 ,","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":["Vision Science Research Center, School of Optometry, University of Alabama at Birmingham 1 Department of Optometry and Vision Science , , Birmingham, AL 35294 ,"],"raw_orcid":"https://orcid.org/0000-0002-7904-9848","affiliations":[{"raw_affiliation_string":"Vision Science Research Center, School of Optometry, University of Alabama at Birmingham 1 Department of Optometry and Vision Science , , Birmingham, AL 35294 ,","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009763775","display_name":"David M. Sherry","orcid":"https://orcid.org/0000-0003-1568-0611","observed_orcids":["https://orcid.org/0000-0003-1568-0611"]},"institutions":[{"id":"https://openalex.org/I49332381","display_name":"University of Oklahoma Health Sciences Center","ror":"https://ror.org/0457zbj98","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I49332381"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David M. Sherry","raw_affiliation_strings":["University of Oklahoma Health Sciences Center 2 Departments of Cell Biology, Neurosurgery, and Pharmaceutical Sciences , , Oklahoma City, OK 73104 ,"],"raw_orcid":"https://orcid.org/0000-0003-1568-0611","affiliations":[{"raw_affiliation_string":"University of Oklahoma Health Sciences Center 2 Departments of Cell Biology, Neurosurgery, and Pharmaceutical Sciences , , Oklahoma City, OK 73104 ,","institution_ids":["https://openalex.org/I49332381"]}]},{"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/I1327163397","display_name":"State University of New York","ror":"https://ror.org/01q1z8k08","country_code":"US","type":"education","lineage":["https://openalex.org/I1327163397"]},{"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":["Jacobs School of Medicine and Biomedical Sciences, The State University of New York, University at Buffalo 4 Departments of Ophthalmology and Biochemistry and Neuroscience Graduate Program , , Buffalo, NY 14203 ,","VA Western New York Healthcare System 3 Research Service , , Buffalo, NY 14215 ,"],"raw_orcid":"https://orcid.org/0000-0002-2557-142X","affiliations":[{"raw_affiliation_string":"Jacobs School of Medicine and Biomedical Sciences, The State University of New York, University at Buffalo 4 Departments of Ophthalmology and Biochemistry and Neuroscience Graduate Program , , Buffalo, NY 14203 ,","institution_ids":["https://openalex.org/I1327163397","https://openalex.org/I63190737"]},{"raw_affiliation_string":"VA Western New York Healthcare System 3 Research Service , , Buffalo, NY 14215 ,","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":["Vision Science Research Center, School of Optometry, University of Alabama at Birmingham 1 Department of Optometry and Vision Science , , Birmingham, AL 35294 ,"],"raw_orcid":"https://orcid.org/0000-0002-8464-9303","affiliations":[{"raw_affiliation_string":"Vision Science Research Center, School of Optometry, University of Alabama at Birmingham 1 Department of Optometry and Vision Science , , Birmingham, AL 35294 ,","institution_ids":["https://openalex.org/I32389192"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5076644038"],"corresponding_institution_ids":["https://openalex.org/I32389192"],"apc_list":{"value":2500,"currency":"GBP","value_usd":3750},"apc_paid":{"value":2500,"currency":"GBP","value_usd":3750},"fwci":0.5523,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":{"value":0.58281523,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":95},"biblio":{"volume":"18","issue":"7","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/knock-in-mice","display_name":"knock-in mice","score":0.7590000033378601},{"id":"https://openalex.org/keywords/protein-glycosylation","display_name":"protein glycosylation","score":0.7490000128746033},{"id":"https://openalex.org/keywords/inner-nuclear-layer-thickness","display_name":"inner nuclear layer thickness","score":0.8199999928474426},{"id":"https://openalex.org/keywords/electroretinography","display_name":"electroretinogram","score":0.7599999904632568},{"id":"https://openalex.org/keywords/retinal-degeneration","display_name":"retinal degeneration","score":0.718999981880188}],"concepts":[{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.9382442235946655},{"id":"https://openalex.org/C2781040256","wikidata":"https://www.wikidata.org/wiki/Q7316761","display_name":"Retinal degeneration","level":3,"score":0.753888726234436},{"id":"https://openalex.org/C2779113765","wikidata":"https://www.wikidata.org/wiki/Q681562","display_name":"Electroretinography","level":3,"score":0.7518259286880493},{"id":"https://openalex.org/C103796816","wikidata":"https://www.wikidata.org/wiki/Q185153","display_name":"Erg","level":3,"score":0.731797456741333},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6229937076568604},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5825337171554565},{"id":"https://openalex.org/C2778231335","wikidata":"https://www.wikidata.org/wiki/Q4113701","display_name":"Outer nuclear layer","level":3,"score":0.5561698079109192},{"id":"https://openalex.org/C2780916184","wikidata":"https://www.wikidata.org/wiki/Q748049","display_name":"Photoreceptor cell","level":3,"score":0.5477945804595947},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.5287536978721619},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.512846052646637},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.5045627355575562},{"id":"https://openalex.org/C2777093970","wikidata":"https://www.wikidata.org/wiki/Q169342","display_name":"Retina","level":2,"score":0.4526306688785553},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.37825721502304077},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.33187276124954224},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.1411784589290619},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11366206407546997},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.10895857214927673}],"mesh":[],"locations_count":7,"locations":[{"id":"doi:10.1242/dmm.052243","doi":"https://doi.org/10.1242/dmm.052243","is_oa":true,"landing_page_url":"https://doi.org/10.1242/dmm.052243","pdf_url":"https://journals.biologists.com/dmm/article-pdf/doi/10.1242/dmm.052243/3654229/dmm052243.pdf","source":{"id":"https://openalex.org/S45087425","display_name":"Disease Models & Mechanisms","issn_l":"1754-8403","issn":["1754-8403","1754-8411"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311847","host_organization_name":"The Company of Biologists","host_organization_lineage":["https://openalex.org/P4310311847"],"host_organization_lineage_names":["The Company of Biologists"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Disease Models &amp; Mechanisms","raw_type":"journal-article"},{"id":"doi:10.1101/2025.01.13.632845","doi":"https://doi.org/10.1101/2025.01.13.632845","is_oa":false,"landing_page_url":"https://doi.org/10.1101/2025.01.13.632845","pdf_url":null,"source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:12352288","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12352288","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":"Dis Model Mech","raw_type":"Text"},{"id":"pmid:39868263","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39868263","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":"bioRxiv : the preprint server for biology","raw_type":"Journal Article"},{"id":"pmid:40574710","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40574710","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":"Disease models & mechanisms","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11761419","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11761419","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:cfe2e1344a57404291df2251d30804a2","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/cfe2e1344a57404291df2251d30804a2","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":"Disease Models & Mechanisms, Vol 18, Iss 7 (2025)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1242/dmm.052243","doi":"https://doi.org/10.1242/dmm.052243","is_oa":true,"landing_page_url":"https://doi.org/10.1242/dmm.052243","pdf_url":"https://journals.biologists.com/dmm/article-pdf/doi/10.1242/dmm.052243/3654229/dmm052243.pdf","source":{"id":"https://openalex.org/S45087425","display_name":"Disease Models & Mechanisms","issn_l":"1754-8403","issn":["1754-8403","1754-8411"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311847","host_organization_name":"The Company of Biologists","host_organization_lineage":["https://openalex.org/P4310311847"],"host_organization_lineage_names":["The Company of Biologists"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Disease Models &amp; Mechanisms","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1509645712","display_name":null,"funder_award_id":"EY003039","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G1619675495","display_name":null,"funder_award_id":"P60 DK- 079626","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G2684445025","display_name":null,"funder_award_id":"DK05336","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G2733069588","display_name":null,"funder_award_id":"DK05336","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G283777812","display_name":null,"funder_award_id":"P60-DK-079626","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G2890081138","display_name":"Center for Clinical and Translational Science","funder_award_id":"UL1TR003096","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G2919543814","display_name":null,"funder_award_id":"I K6 BX005787","funder_id":"https://openalex.org/F4320309842","funder_display_name":"Biomedical Laboratory Research and Development, VA Office of Research and Development"},{"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/G3579185629","display_name":null,"funder_award_id":"P30DK05336","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3877058170","display_name":"The Hepato/Renal Fibrocystic Disease Core Center","funder_award_id":"P30DK074038","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G48990792","display_name":"UAB Diabetes Research and Training Center","funder_award_id":"5p60dk079626-05","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G5173842171","display_name":null,"funder_award_id":"IK6 BX005787","funder_id":"https://openalex.org/F4320306127","funder_display_name":"U.S. Department of Veterans Affairs"},{"id":"https://openalex.org/G5464804163","display_name":"ISOPRENOID METABOLISM IN THE RETINA","funder_award_id":"R01EY007361","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G7820584853","display_name":"Rheumatic Diseases Core Centers (P30)","funder_award_id":"P30AR048311","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"},{"id":"https://openalex.org/G8855347160","display_name":null,"funder_award_id":"EY029341","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G9000040708","display_name":null,"funder_award_id":"CA 13148","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000059066","display_name":null,"funder_award_id":"EY003039","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000102579","display_name":null,"funder_award_id":"DK079626","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000169993","display_name":null,"funder_award_id":"AR048311","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000333407","display_name":null,"funder_award_id":"DK074038","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000857487","display_name":"Cholesterol homeostasis in the vertebrate retina","funder_award_id":"R01EY033298","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"},{"id":"https://openalex.org/G9000883787","display_name":"Comprehensive Cancer Center Support Grant","funder_award_id":"P30CA013148","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G9000889588","display_name":"Characterization of DHDDS RP59 Knockin Models of Retinitis Pigmentosa","funder_award_id":"F31EY032764","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G9000911678","display_name":"UAB Diabetes Research Center","funder_award_id":"P30DK079626","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320306085","display_name":"U.S. Department of Health and Human Services","ror":"https://ror.org/033jnv181"},{"id":"https://openalex.org/F4320306127","display_name":"U.S. Department of Veterans Affairs","ror":"https://ror.org/05rsv9s98"},{"id":"https://openalex.org/F4320309842","display_name":"Biomedical Laboratory Research and Development, VA Office of Research and Development","ror":"https://ror.org/05rsv9s98"},{"id":"https://openalex.org/F4320310431","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205"},{"id":"https://openalex.org/F4320312852","display_name":"University of Alabama","ror":"https://ror.org/03xrrjk67"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320332641","display_name":"University at Buffalo","ror":"https://ror.org/01y64my43"},{"id":"https://openalex.org/F4320334442","display_name":"VA Western New York Healthcare System","ror":"https://ror.org/00a1c5n07"},{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"id":"https://openalex.org/F4320337355","display_name":"National Institute of Allergy and Infectious Diseases","ror":"https://ror.org/043z4tv69"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"},{"id":"https://openalex.org/F4320337362","display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","ror":"https://ror.org/006zn3t30"},{"id":"https://openalex.org/F4320337472","display_name":"National Center for Advancing Translational Sciences","ror":"https://ror.org/04pw6fb54"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4411709284.pdf","grobid_xml":"https://content.openalex.org/works/W4411709284.grobid-xml"},"referenced_works_count":47,"referenced_works":["https://openalex.org/W1972375269","https://openalex.org/W1985348163","https://openalex.org/W1988101725","https://openalex.org/W1995043049","https://openalex.org/W1997659426","https://openalex.org/W2007600931","https://openalex.org/W2023942279","https://openalex.org/W2043057314","https://openalex.org/W2043127407","https://openalex.org/W2061721138","https://openalex.org/W2073324143","https://openalex.org/W2075923179","https://openalex.org/W2076879679","https://openalex.org/W2091515229","https://openalex.org/W2097696941","https://openalex.org/W2117136354","https://openalex.org/W2124298620","https://openalex.org/W2129307749","https://openalex.org/W2141622431","https://openalex.org/W2152708819","https://openalex.org/W2153112938","https://openalex.org/W2153282442","https://openalex.org/W2310164779","https://openalex.org/W2338225276","https://openalex.org/W2472606679","https://openalex.org/W2588646037","https://openalex.org/W2594557659","https://openalex.org/W2737941524","https://openalex.org/W2777440024","https://openalex.org/W2982071420","https://openalex.org/W3014310877","https://openalex.org/W3029650759","https://openalex.org/W3046888414","https://openalex.org/W3048630372","https://openalex.org/W3092916710","https://openalex.org/W3161923784","https://openalex.org/W3184006565","https://openalex.org/W3191139421","https://openalex.org/W4210804018","https://openalex.org/W4220866162","https://openalex.org/W4235233217","https://openalex.org/W4308127929","https://openalex.org/W4382983972","https://openalex.org/W4384202159","https://openalex.org/W4399173681","https://openalex.org/W6602621131","https://openalex.org/W6731885544"],"related_works":["https://openalex.org/W4406475786","https://openalex.org/W4384202159","https://openalex.org/W3014310877","https://openalex.org/W3011576847","https://openalex.org/W160471267","https://openalex.org/W3214972596","https://openalex.org/W946906190","https://openalex.org/W3027724936","https://openalex.org/W2091515229","https://openalex.org/W3184006565"],"abstract_inverted_index":{"ABSTRACT":[0],"D":[1],"e":[2],"h":[3],"ydro":[4],"d":[5,7],"olichyl":[6],"iphosphate":[8],"s":[9],"ynthase":[10],"(DHDDS)":[11],"is":[12,142,235],"an":[13,56],"essential":[14],"enzyme":[15],"required":[16],"for":[17],"several":[18],"forms":[19],"of":[20,91,124,227,250],"protein":[21],"glycosylation":[22],"in":[23,40,71,85,132,137,144,175,182,203,253,258,263],"all":[24,145,176,204],"eukaryotic":[25],"cells.":[26],"Surprisingly,":[27],"three":[28],"mutant":[29,146,206],"alleles,":[30],"(":[31],"Dhdds":[32,35,44,205],"K42E/K42E":[33,133],"(K42E/K42E),":[34],"T206A/K42E":[36,83,119],"(T206A/K42E),":[37],"and":[38,81,104,163,169,190,197,231],"found":[39],"only":[41,64],"one":[42],"patient,":[43],"R98W/K42E":[45],"(R98W/K42E)":[46],"have":[47],"been":[48],"reported":[49],"that":[50,218,232,246],"cause":[51],"non-syndromic":[52],"retinitis":[53],"pigmentosa":[54],"(RP59),":[55],"inherited":[57],"retinal":[58,224,251],"degeneration":[59],"(IRD).":[60],"Because":[61],"T206A":[62,93,221],"was":[63,130],"observed":[65,131,143,193],"heterozygously":[66],"with":[67,179],"the":[68,89,92,96,101,219,228,247,259],"K42E":[69,112,229],"allele":[70,94,222],"RP59":[72,254],"patients,":[73],"we":[74],"used":[75],"CRISPR/CAS9":[76],"technology":[77],"to":[78,87,95,99,105,109,149,209],"generate":[79],"T206A/T206A,":[80],"subsequently":[82],"alleles":[84],"mice":[86,120],"assess":[88],"contribution":[90],"disease":[97,225,238],"phenotype,":[98],"model":[100],"human":[102],"disease,":[103],"compare":[106],"resulting":[107,262],"phenotypes":[108,147,207],"our":[110],"homozygous":[111],"mouse":[113],"model.":[114],"By":[115],"postnatal":[116],"(PN)":[117],"12-mo,":[118],"exhibit":[121],"significant":[122],"reduction":[123,181],"inner":[125,183,260],"nuclear":[126,139,184],"layer":[127,140,185],"thickness":[128,141,186],"as":[129],"mice.":[134],"No":[135],"change":[136],"outer":[138],"up":[148],"PN":[150,165,210],"12":[151],"mo.":[152],"Electroretinography":[153],"(ERG)":[154],"showed":[155],"a":[156,180,236],"significantly":[157,173],"reduced":[158,202],"b-wave":[159],"without":[160],"a-wave":[161],"decrement":[162],"by":[164,188,194],"3-mo,":[166],"ERG":[167],"c-":[168],"d-wave":[170],"responses":[171],"were":[172,201],"attenuated":[174],"phenotypes.":[177],"Consistent":[178],"seen":[187],"OCT":[189],"cell":[191,199,265],"loss":[192],"histology,":[195],"bipolar":[196],"amacrine":[198],"densities":[200],"compared":[208],"8-12":[211],"mo":[212],"age-matched":[213],"controls.":[214],"These":[215],"results":[216],"indicate":[217],"DHDDS":[220,242],"causes":[223],"independent":[226],"allele,":[230],"there":[233],"likely":[234],"common":[237],"mechanism":[239],"involving":[240],"RP59-associated":[241],"mutations.":[243],"We":[244],"conclude":[245],"physiological":[248],"basis":[249],"dysfunction":[252],"involves":[255],"defective":[256],"signaling":[257],"retina":[261],"bipolar/amacrine":[264],"degeneration.":[266]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2025-06-27T00:00:00"}
