{"id":"https://openalex.org/W4384202159","doi":"https://doi.org/10.1038/s41419-023-05936-4","title":"A Dhdds K42E knock-in RP59 mouse model shows inner retina pathology and defective synaptic transmission","display_name":"A Dhdds K42E knock-in RP59 mouse model shows inner retina pathology and defective synaptic transmission","publication_year":2023,"publication_date":"2023-07-13","ids":{"openalex":"https://openalex.org/W4384202159","doi":"https://doi.org/10.1038/s41419-023-05936-4","pmid":"https://pubmed.ncbi.nlm.nih.gov/37443173","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/10345138"},"language":"en","primary_location":{"id":"doi:10.1038/s41419-023-05936-4","doi":"https://doi.org/10.1038/s41419-023-05936-4","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41419-023-05936-4","pdf_url":"https://www.nature.com/articles/s41419-023-05936-4.pdf","source":{"id":"https://openalex.org/S185208586","display_name":"Cell Death and Disease","issn_l":"2041-4889","issn":["2041-4889"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cell Death & Disease","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.nature.com/articles/s41419-023-05936-4.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":["Department of Optometry and Vision Science, Vision Science Research Center, School of Optometry, University of Alabama at Birmingham, Birmingham, AL, 35294, USA"],"raw_orcid":"https://orcid.org/0000-0001-5349-7880","affiliations":[{"raw_affiliation_string":"Department of Optometry and Vision Science, Vision Science Research Center, School of Optometry, University of Alabama at Birmingham, Birmingham, AL, 35294, USA","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":["Department of Optometry and Vision Science, Vision Science Research Center, School of Optometry, 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, School of Optometry, 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 and Neuroscience Graduate Program, Jacobs School of Medicine and Biomedical Sciences, The State University of New York, University at Buffalo, Buffalo, NY, 14203, USA","Research Service, VA Western New York Healthcare System, Buffalo, NY, 14215, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Ophthalmology and Biochemistry and Neuroscience Graduate Program, Jacobs School of Medicine and Biomedical Sciences, The State University of New York, University at Buffalo, Buffalo, NY, 14203, USA","institution_ids":["https://openalex.org/I63190737"]},{"raw_affiliation_string":"Research Service, VA Western New York Healthcare System, Buffalo, NY, 14215, USA","institution_ids":["https://openalex.org/I4210093236","https://openalex.org/I4210095389"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000476110","display_name":"Agnieszka Ony\u015bk","orcid":"https://orcid.org/0000-0002-8207-6281","observed_orcids":["https://orcid.org/0000-0002-8207-6281"]},"institutions":[{"id":"https://openalex.org/I4210128244","display_name":"Institute of Biochemistry and Biophysics, Polish Academy of Sciences","ror":"https://ror.org/034tvp782","country_code":"PL","type":"facility","lineage":["https://openalex.org/I4210128244","https://openalex.org/I99542240"]},{"id":"https://openalex.org/I99542240","display_name":"Polish Academy of Sciences","ror":"https://ror.org/01dr6c206","country_code":"PL","type":"government","lineage":["https://openalex.org/I99542240"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Agnieszka Onysk","raw_affiliation_strings":["Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, 02106, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, 02106, Poland","institution_ids":["https://openalex.org/I4210128244","https://openalex.org/I99542240"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043995644","display_name":"Mariusz Radkiewicz","orcid":"https://orcid.org/0000-0002-8659-6516","observed_orcids":["https://orcid.org/0000-0002-8659-6516"]},"institutions":[{"id":"https://openalex.org/I4210128244","display_name":"Institute of Biochemistry and Biophysics, Polish Academy of Sciences","ror":"https://ror.org/034tvp782","country_code":"PL","type":"facility","lineage":["https://openalex.org/I4210128244","https://openalex.org/I99542240"]},{"id":"https://openalex.org/I99542240","display_name":"Polish Academy of Sciences","ror":"https://ror.org/01dr6c206","country_code":"PL","type":"government","lineage":["https://openalex.org/I99542240"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Mariusz Radkiewicz","raw_affiliation_strings":["Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, 02106, Poland"],"raw_orcid":"https://orcid.org/0000-0002-8659-6516","affiliations":[{"raw_affiliation_string":"Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, 02106, Poland","institution_ids":["https://openalex.org/I4210128244","https://openalex.org/I99542240"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074635677","display_name":"Liliana Surmacz","orcid":"https://orcid.org/0000-0002-9517-1608","observed_orcids":["https://orcid.org/0000-0002-9517-1608"]},"institutions":[{"id":"https://openalex.org/I4210128244","display_name":"Institute of Biochemistry and Biophysics, Polish Academy of Sciences","ror":"https://ror.org/034tvp782","country_code":"PL","type":"facility","lineage":["https://openalex.org/I4210128244","https://openalex.org/I99542240"]},{"id":"https://openalex.org/I99542240","display_name":"Polish Academy of Sciences","ror":"https://ror.org/01dr6c206","country_code":"PL","type":"government","lineage":["https://openalex.org/I99542240"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Liliana Surmacz","raw_affiliation_strings":["Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, 02106, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, 02106, Poland","institution_ids":["https://openalex.org/I4210128244","https://openalex.org/I99542240"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049381929","display_name":"Ewa \u015awie\u017cewska","orcid":"https://orcid.org/0000-0002-3439-8948","observed_orcids":["https://orcid.org/0000-0002-3439-8948"]},"institutions":[{"id":"https://openalex.org/I4210128244","display_name":"Institute of Biochemistry and Biophysics, Polish Academy of Sciences","ror":"https://ror.org/034tvp782","country_code":"PL","type":"facility","lineage":["https://openalex.org/I4210128244","https://openalex.org/I99542240"]},{"id":"https://openalex.org/I99542240","display_name":"Polish Academy of Sciences","ror":"https://ror.org/01dr6c206","country_code":"PL","type":"government","lineage":["https://openalex.org/I99542240"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Ewa Swiezewska","raw_affiliation_strings":["Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, 02106, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, 02106, Poland","institution_ids":["https://openalex.org/I4210128244","https://openalex.org/I99542240"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055693924","display_name":"Eric Soubeyrand","orcid":"https://orcid.org/0000-0003-2970-3183","observed_orcids":["https://orcid.org/0000-0003-2970-3183"]},"institutions":[{"id":"https://openalex.org/I79817857","display_name":"University of Guelph","ror":"https://ror.org/01r7awg59","country_code":"CA","type":"education","lineage":["https://openalex.org/I79817857"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Eric Soubeyrand","raw_affiliation_strings":["Department of Molecular and Cellular Biology, University of Guelph, Guelph, Ontario, N1G2W1, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Cellular Biology, University of Guelph, Guelph, Ontario, N1G2W1, Canada","institution_ids":["https://openalex.org/I79817857"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043838205","display_name":"Tariq A. Akhtar","orcid":"https://orcid.org/0000-0002-6492-681X","observed_orcids":["https://orcid.org/0000-0002-6492-681X"]},"institutions":[{"id":"https://openalex.org/I79817857","display_name":"University of Guelph","ror":"https://ror.org/01r7awg59","country_code":"CA","type":"education","lineage":["https://openalex.org/I79817857"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Tariq A. Akhtar","raw_affiliation_strings":["Department of Molecular and Cellular Biology, University of Guelph, Guelph, Ontario, N1G2W1, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Cellular Biology, University of Guelph, Guelph, Ontario, N1G2W1, Canada","institution_ids":["https://openalex.org/I79817857"]}]},{"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, School of Optometry, 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, School of Optometry, University of Alabama at Birmingham, Birmingham, AL, 35294, USA","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":["Departments of Cell Biology, Neurosurgery, and Pharmaceutical Sciences, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Cell Biology, Neurosurgery, and Pharmaceutical Sciences, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA","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/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 and Neuroscience Graduate Program, Jacobs School of Medicine and Biomedical Sciences, The State University of New York, University at Buffalo, Buffalo, NY, 14203, USA","Research Service, VA Western New York Healthcare System, Buffalo, NY, 14215, USA"],"raw_orcid":"https://orcid.org/0000-0002-2557-142X","affiliations":[{"raw_affiliation_string":"Departments of Ophthalmology and Biochemistry and Neuroscience Graduate Program, Jacobs School of Medicine and Biomedical Sciences, The State University of New York, University at Buffalo, Buffalo, NY, 14203, USA","institution_ids":["https://openalex.org/I63190737"]},{"raw_affiliation_string":"Research Service, VA Western New York 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, School of Optometry, University of Alabama at Birmingham, Birmingham, AL, 35294, USA. pittler@uab.edu","Department of Optometry and Vision Science, Vision Science Research Center, School of Optometry, 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, School of Optometry, University of Alabama at Birmingham, Birmingham, AL, 35294, USA. pittler@uab.edu","institution_ids":["https://openalex.org/I32389192"]},{"raw_affiliation_string":"Department of Optometry and Vision Science, Vision Science Research Center, School of Optometry, University of Alabama at Birmingham, Birmingham, AL, 35294, USA","institution_ids":["https://openalex.org/I32389192"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5076644038"],"corresponding_institution_ids":["https://openalex.org/I32389192"],"apc_list":{"value":4490,"currency":"USD","value_usd":4490},"apc_paid":{"value":4490,"currency":"USD","value_usd":4490},"fwci":0.5188,"has_fulltext":true,"cited_by_count":6,"citation_normalized_percentile":{"value":0.55388486,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":96,"max":98},"biblio":{"volume":"14","issue":"7","first_page":"420","last_page":"420"},"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/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"}},{"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"}}],"keywords":[{"id":"https://openalex.org/keywords/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":0.9210000038146973},{"id":"https://openalex.org/keywords/knock-in-mice","display_name":"knock-in mice","score":0.8119999766349792},{"id":"https://openalex.org/keywords/cis-prenyltransferase","display_name":"cis-prenyltransferase","score":0.8700000047683716},{"id":"https://openalex.org/keywords/dolichol","display_name":"dolichol","score":0.7649999856948853},{"id":"https://openalex.org/keywords/protein-isoprenylation","display_name":"isoprenylation","score":0.6539999842643738},{"id":"https://openalex.org/keywords/n-glycosylation","display_name":"N-glycosylation","score":0.777999997138977},{"id":"https://openalex.org/keywords/synaptic-transmission","display_name":"synaptic transmission","score":0.7419999837875366},{"id":"https://openalex.org/keywords/inner-nuclear-layer","display_name":"inner nuclear layer","score":0.7670000195503235},{"id":"https://openalex.org/keywords/outer-plexiform-layer","display_name":"outer plexiform layer","score":0.8320000171661377},{"id":"https://openalex.org/keywords/retinal-transcriptome","display_name":"retinal transcriptome","score":0.8149999976158142},{"id":"https://openalex.org/keywords/synaptogenesis","display_name":"synaptogenesis","score":0.75},{"id":"https://openalex.org/keywords/electroretinography","display_name":"electroretinogram","score":0.7630000114440918},{"id":"https://openalex.org/keywords/retinal-thickness","display_name":"retinal thickness","score":0.6000000238418579}],"concepts":[{"id":"https://openalex.org/C2778231335","wikidata":"https://www.wikidata.org/wiki/Q4113701","display_name":"Outer nuclear layer","level":3,"score":0.8488149046897888},{"id":"https://openalex.org/C2781040256","wikidata":"https://www.wikidata.org/wiki/Q7316761","display_name":"Retinal degeneration","level":3,"score":0.7435176968574524},{"id":"https://openalex.org/C2777093970","wikidata":"https://www.wikidata.org/wiki/Q169342","display_name":"Retina","level":2,"score":0.7392356991767883},{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.7352950572967529},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7152029871940613},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.5989090800285339},{"id":"https://openalex.org/C2779113765","wikidata":"https://www.wikidata.org/wiki/Q681562","display_name":"Electroretinography","level":3,"score":0.594393789768219},{"id":"https://openalex.org/C2777506830","wikidata":"https://www.wikidata.org/wiki/Q4113799","display_name":"Inner nuclear layer","level":3,"score":0.5885124802589417},{"id":"https://openalex.org/C2777585161","wikidata":"https://www.wikidata.org/wiki/Q2357246","display_name":"Outer plexiform layer","level":3,"score":0.5867601037025452},{"id":"https://openalex.org/C2780916184","wikidata":"https://www.wikidata.org/wiki/Q748049","display_name":"Photoreceptor cell","level":3,"score":0.47670337557792664},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.3697761297225952},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3510318398475647},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.1394931972026825},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.10306674242019653}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","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":"D009435","descriptor_name":"Synaptic Transmission","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012162","descriptor_name":"Retinal Degeneration","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1038/s41419-023-05936-4","doi":"https://doi.org/10.1038/s41419-023-05936-4","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41419-023-05936-4","pdf_url":"https://www.nature.com/articles/s41419-023-05936-4.pdf","source":{"id":"https://openalex.org/S185208586","display_name":"Cell Death and Disease","issn_l":"2041-4889","issn":["2041-4889"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cell Death & Disease","raw_type":"journal-article"},{"id":"doi:10.21203/rs.3.rs-2054399/v1","doi":"https://doi.org/10.21203/rs.3.rs-2054399/v1","is_oa":true,"landing_page_url":"https://doi.org/10.21203/rs.3.rs-2054399/v1","pdf_url":"https://www.researchsquare.com/article/rs-2054399/latest.pdf","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","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","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:10345138","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10345138","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10345138/pdf/41419_2023_Article_5936.pdf","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":"Cell Death Dis","raw_type":"Text"},{"id":"pmid:37443173","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37443173","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":"Cell death & disease","raw_type":"Journal Article"},{"id":"pmh:oai:generic.eprints.org:2306","doi":null,"is_oa":true,"landing_page_url":"http://eprints.ibb.waw.pl/2306/1/2023_Cell%20Deaty%20and%20Disease_Radkiewicz.pdf","pdf_url":"http://eprints.ibb.waw.pl/2306/1/2023_Cell%20Deaty%20and%20Disease_Radkiewicz.pdf","source":{"id":"https://openalex.org/S4306402376","display_name":"IBB PAS Repository (Institute of Biochemistry and Biophysics Polish Academy of Sciences)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210128244","host_organization_name":"Institute of Biochemistry and Biophysics, Polish Academy of Sciences","host_organization_lineage":["https://openalex.org/I4210128244"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:doaj.org/article:fee4e4b88da74e74bbf913af60ede5b9","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/fee4e4b88da74e74bbf913af60ede5b9","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":"Cell Death and Disease, Vol 14, Iss 7, Pp 1-10 (2023)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1038/s41419-023-05936-4","doi":"https://doi.org/10.1038/s41419-023-05936-4","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41419-023-05936-4","pdf_url":"https://www.nature.com/articles/s41419-023-05936-4.pdf","source":{"id":"https://openalex.org/S185208586","display_name":"Cell Death and Disease","issn_l":"2041-4889","issn":["2041-4889"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cell Death & Disease","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"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/G1519340207","display_name":null,"funder_award_id":"P30 EY003039","funder_id":"https://openalex.org/F4320306085","funder_display_name":"U.S. Department of Health and Human Services"},{"id":"https://openalex.org/G1563955957","display_name":null,"funder_award_id":"R01 EY023603","funder_id":"https://openalex.org/F4320306085","funder_display_name":"U.S. Department of Health and Human Services"},{"id":"https://openalex.org/G1771170019","display_name":"Comprehensive quantification of cone dynamics","funder_award_id":"5r01ey023603-08","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G2459359547","display_name":null,"funder_award_id":"R01-EY023603","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"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/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/G4012635679","display_name":null,"funder_award_id":"UMO-2019/35/B/NZ1/03794","funder_id":"https://openalex.org/F4320322511","funder_display_name":"Narodowe Centrum Nauki"},{"id":"https://openalex.org/G4777840658","display_name":null,"funder_award_id":"RGPIN-2014-05628","funder_id":"https://openalex.org/F4320334593","funder_display_name":"Natural Sciences and Engineering Research Council of Canada"},{"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/G6107701084","display_name":null,"funder_award_id":"R01 EY029341","funder_id":"https://openalex.org/F4320306085","funder_display_name":"U.S. Department of Health and Human Services"},{"id":"https://openalex.org/G6175155933","display_name":null,"funder_award_id":"RGPIN-2014-05628","funder_id":"https://openalex.org/F4320319880","funder_display_name":"Government of Canada"},{"id":"https://openalex.org/G8534764660","display_name":null,"funder_award_id":"F31 EY032764","funder_id":"https://openalex.org/F4320306085","funder_display_name":"U.S. Department of Health and Human Services"},{"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/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/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/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"}],"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/F4320306404","display_name":"Knights Templar Eye Foundation","ror":"https://ror.org/03mq5pg65"},{"id":"https://openalex.org/F4320310921","display_name":"University of Guelph","ror":"https://ror.org/01r7awg59"},{"id":"https://openalex.org/F4320312354","display_name":"\u00d6gonfonden","ror":"https://ror.org/00n58s174"},{"id":"https://openalex.org/F4320319880","display_name":"Government of Canada","ror":"https://ror.org/010q4q527"},{"id":"https://openalex.org/F4320322511","display_name":"Narodowe Centrum Nauki","ror":"https://ror.org/03ha2q922"},{"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/F4320334593","display_name":"Natural Sciences and Engineering Research Council of Canada","ror":"https://ror.org/01h531d29"},{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"},{"id":"https://openalex.org/F4320337472","display_name":"National Center for Advancing Translational Sciences","ror":"https://ror.org/04pw6fb54"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4384202159.pdf","grobid_xml":"https://content.openalex.org/works/W4384202159.grobid-xml"},"referenced_works_count":53,"referenced_works":["https://openalex.org/W59369753","https://openalex.org/W77228969","https://openalex.org/W160471267","https://openalex.org/W1423288872","https://openalex.org/W1977196395","https://openalex.org/W1981452746","https://openalex.org/W1985079240","https://openalex.org/W1985348163","https://openalex.org/W2006692595","https://openalex.org/W2015071615","https://openalex.org/W2017633751","https://openalex.org/W2023942279","https://openalex.org/W2028550618","https://openalex.org/W2028686050","https://openalex.org/W2055820698","https://openalex.org/W2055972850","https://openalex.org/W2056295818","https://openalex.org/W2061721138","https://openalex.org/W2075923179","https://openalex.org/W2091515229","https://openalex.org/W2103044715","https://openalex.org/W2114921406","https://openalex.org/W2117136354","https://openalex.org/W2124298620","https://openalex.org/W2129307749","https://openalex.org/W2136609880","https://openalex.org/W2138387337","https://openalex.org/W2153282442","https://openalex.org/W2169582112","https://openalex.org/W2310164779","https://openalex.org/W2344841325","https://openalex.org/W2462104816","https://openalex.org/W2472606679","https://openalex.org/W2765787105","https://openalex.org/W2777440024","https://openalex.org/W2777974055","https://openalex.org/W2790824260","https://openalex.org/W2899710525","https://openalex.org/W2963254568","https://openalex.org/W2993101524","https://openalex.org/W3004846985","https://openalex.org/W3011576847","https://openalex.org/W3014310877","https://openalex.org/W3015759316","https://openalex.org/W3027724936","https://openalex.org/W3048630372","https://openalex.org/W3092916710","https://openalex.org/W3150790461","https://openalex.org/W3175818804","https://openalex.org/W3191139421","https://openalex.org/W4211139356","https://openalex.org/W4220866162","https://openalex.org/W4285742112"],"related_works":["https://openalex.org/W4411709284","https://openalex.org/W3014310877","https://openalex.org/W4406475786","https://openalex.org/W4308127929","https://openalex.org/W3011576847","https://openalex.org/W3214972596","https://openalex.org/W3027724936","https://openalex.org/W160471267","https://openalex.org/W3184006565","https://openalex.org/W2091515229"],"abstract_inverted_index":{"Retinitis":[0],"pigmentosa":[1],"(RP)":[2],"defines":[3],"a":[4,13,63,77,172],"group":[5],"of":[6,47,58,76,124,137,146,154,213,222,231,261],"hereditary":[7],"progressive":[8],"rod-cone":[9],"degenerations":[10],"that":[11,61,114,257],"exhibit":[12],"common":[14],"phenotype":[15],"caused":[16],"by":[17],"variants":[18,25,38],"in":[19,26,34,94,119,133,142,160,175,202],"over":[20],"70":[21],"genes.":[22],"While":[23],"most":[24,84],"the":[27,48,56,71,83,115,125,134,176,203,220,258],"dehydrodolichyl":[28],"diphosphate":[29],"synthase":[30],"(DHDDS)":[31],"gene":[32],"result":[33],"syndromic":[35],"abnormalities,":[36],"some":[37],"cause":[39,260],"non-syndromic":[40],"RP":[41],"(RP59).":[42],"DHDDS":[43,87,95,262],"encodes":[44],"one":[45],"subunit":[46],"enzyme":[49],"cis-prenyltransferase":[50],"(CPT),":[51],"which":[52],"is":[53,62,269],"required":[54],"for":[55],"synthesis":[57],"dolichol":[59],"(Dol),":[60],"necessary":[64],"protein":[65,108],"glycosylation":[66],"cofactor.":[67],"We":[68],"previously":[69],"reported":[70,141],"creation":[72],"and":[73,122,144,162,181,210],"initial":[74],"characterization":[75],"knock-in":[78],"(KI)":[79],"mouse":[80,127],"model":[81,101,128],"harboring":[82],"prevalent":[85],"RP59-associated":[86],"variant":[88,264],"(K42E)":[89],"to":[90,97,194,227,252,275],"understand":[91],"how":[92],"defects":[93],"lead":[96],"retina-specific":[98],"pathology.":[99],"This":[100],"exhibited":[102,234],"no":[103],"profound":[104],"retinal":[105,166,183,267],"degeneration,":[106],"nor":[107],"N-glycosylation":[109],"defects.":[110],"Here,":[111],"we":[112],"report":[113],"Dol":[116],"isoprenylogue":[117],"species":[118],"retina,":[120],"liver,":[121],"brain":[123],"K42E":[126,223,263],"are":[129],"statistically":[130],"shorter":[131],"than":[132],"corresponding":[135],"tissues":[136],"age-matched":[138],"controls,":[139],"as":[140],"blood":[143],"urine":[145],"RP59":[147,266],"patients.":[148],"Retinal":[149],"transcriptome":[150],"analysis":[151,198],"demonstrated":[152,171],"elevation":[153],"many":[155],"genes":[156],"encoding":[157],"proteins":[158],"involved":[159],"synaptogenesis":[161],"synaptic":[163,271],"function.":[164],"Quantitative":[165],"cell":[167,200],"layer":[168,179,207,216],"thickness":[169,184],"measurements":[170],"significant":[173],"reduction":[174],"inner":[177,276],"nuclear":[178,215],"(INL)":[180],"total":[182],"(TRT)":[185],"beginning":[186,238],"at":[187,239],"postnatal":[188],"(PN)":[189],"\u223c2":[190],"months,":[191],"progressively":[192,242],"increasing":[193],"PN":[195,240,245],"18-mo.":[196],"Histological":[197],"revealed":[199],"loss":[201],"INL,":[204],"outer":[205,214,274],"plexiform":[206],"(OPL)":[208],"disruption,":[209],"ectopic":[211],"localization":[212],"(ONL)":[217],"nuclei":[218],"into":[219],"OPL":[221],"mutant":[224,232],"retinas,":[225],"relative":[226,251],"controls.":[228,253],"Electroretinograms":[229],"(ERGs)":[230],"mice":[233],"reduced":[235],"b-wave":[236],"amplitudes":[237],"1-mo,":[241],"declining":[243],"through":[244],"18-mo,":[246],"without":[247],"appreciable":[248],"a-wave":[249],"attenuation,":[250],"Our":[254],"results":[255],"suggest":[256],"underlying":[259],"driven":[265],"pathology":[268],"defective":[270],"transmission":[272],"from":[273],"retina.":[277]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2023-07-14T00:00:00"}