{"id":"https://openalex.org/W2057777449","doi":"https://doi.org/10.1074/jbc.270.41.24420","title":"Deficient Geranylgeranylation of Ram/Rab27 in Choroideremia","display_name":"Deficient Geranylgeranylation of Ram/Rab27 in Choroideremia","publication_year":1995,"publication_date":"1995-10-01","ids":{"openalex":"https://openalex.org/W2057777449","doi":"https://doi.org/10.1074/jbc.270.41.24420","mag":"2057777449","pmid":"https://pubmed.ncbi.nlm.nih.gov/7592656"},"language":"en","primary_location":{"id":"doi:10.1074/jbc.270.41.24420","doi":"https://doi.org/10.1074/jbc.270.41.24420","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.270.41.24420","pdf_url":null,"source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1074/jbc.270.41.24420","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5090216858","display_name":"Miguel C. Seabra","orcid":"https://orcid.org/0000-0002-6404-4892","observed_orcids":["https://orcid.org/0000-0002-6404-4892","https://orcid.org/0000-0002-4149-943X"]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Miguel C. Seabra","raw_affiliation_strings":["Department of Molecular Genetics, University of Texas, Southwestern Medical Center, Dallas 75235, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Texas, Southwestern Medical Center, Dallas 75235, USA","institution_ids":["https://openalex.org/I867280407"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108466666","display_name":"Yiu Kee Ho","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yiu K. Ho","raw_affiliation_strings":["Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75235"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75235","institution_ids":["https://openalex.org/I867280407"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5024027164","display_name":"Janmeet S. Anant","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Janmeet S. Anant","raw_affiliation_strings":["Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75235"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75235","institution_ids":["https://openalex.org/I867280407"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5090216858"],"corresponding_institution_ids":["https://openalex.org/I867280407"],"apc_list":{"value":3430,"currency":"USD","value_usd":3430},"apc_paid":{"value":3430,"currency":"USD","value_usd":3430},"fwci":12.4157,"has_fulltext":false,"cited_by_count":226,"citation_normalized_percentile":{"value":0.99057178,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":95,"max":99},"biblio":{"volume":"270","issue":"41","first_page":"24420","last_page":"24427"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.5346999764442444,"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":0.5346999764442444,"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/T10617","display_name":"Cellular transport and secretion","score":0.4406999945640564,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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":0.00430000014603138,"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/choroideremia","display_name":"choroideremia","score":1.0},{"id":"https://openalex.org/keywords/rab-gtpases","display_name":"Rab GTPases","score":0.7279999852180481},{"id":"https://openalex.org/keywords/geranylgeranylation","display_name":"geranylgeranylation","score":0.9940000176429749},{"id":"https://openalex.org/keywords/prenylation","display_name":"prenylation","score":0.8209999799728394},{"id":"https://openalex.org/keywords/x-linked-retinal-degeneration","display_name":"X-linked retinal degeneration","score":0.8840000033378601},{"id":"https://openalex.org/keywords/retinal-pigment-epithelium","display_name":"retinal pigment epithelium","score":0.8500000238418579},{"id":"https://openalex.org/keywords/choriocapillaris","display_name":"choriocapillaris","score":0.9959999918937683},{"id":"https://openalex.org/keywords/vesicular-trafficking","display_name":"vesicle trafficking","score":0.8130000233650208}],"concepts":[{"id":"https://openalex.org/C2779418775","wikidata":"https://www.wikidata.org/wiki/Q2397009","display_name":"Choroideremia","level":3,"score":0.9993140697479248},{"id":"https://openalex.org/C156728348","wikidata":"https://www.wikidata.org/wiki/Q416778","display_name":"Rab","level":3,"score":0.9332466721534729},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6552459597587585},{"id":"https://openalex.org/C2778024200","wikidata":"https://www.wikidata.org/wiki/Q2346242","display_name":"Retinal pigment epithelium","level":3,"score":0.5411654114723206},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.5255364775657654},{"id":"https://openalex.org/C23167141","wikidata":"https://www.wikidata.org/wiki/Q14912965","display_name":"Geranylgeranylation","level":4,"score":0.4986073970794678},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.4335811734199524},{"id":"https://openalex.org/C57581600","wikidata":"https://www.wikidata.org/wiki/Q2449730","display_name":"Transport protein","level":2,"score":0.42033326625823975},{"id":"https://openalex.org/C207332259","wikidata":"https://www.wikidata.org/wiki/Q769143","display_name":"GTPase","level":2,"score":0.3628558814525604},{"id":"https://openalex.org/C57790582","wikidata":"https://www.wikidata.org/wiki/Q901141","display_name":"Prenylation","level":3,"score":0.2698277235031128},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.19287317991256714},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000075745","descriptor_name":"rab27 GTP-Binding Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":true},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000302","qualifier_name":"isolation & purification","is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002850","descriptor_name":"Chromatography, Gel","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002852","descriptor_name":"Chromatography, Ion Exchange","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003001","descriptor_name":"Cloning, Molecular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004926","descriptor_name":"Escherichia coli","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007700","descriptor_name":"Kinetics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008214","descriptor_name":"Lymphocytes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011994","descriptor_name":"Recombinant Proteins","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D011994","descriptor_name":"Recombinant Proteins","qualifier_ui":"Q000302","qualifier_name":"isolation & purification","is_major_topic":false},{"descriptor_ui":"D011994","descriptor_name":"Recombinant Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014166","descriptor_name":"Transferases","qualifier_ui":"Q000302","qualifier_name":"isolation & purification","is_major_topic":false},{"descriptor_ui":"D014166","descriptor_name":"Transferases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015794","descriptor_name":"Choroideremia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015794","descriptor_name":"Choroideremia","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D017368","descriptor_name":"Protein Prenylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017931","descriptor_name":"DNA Primers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019204","descriptor_name":"GTP-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019204","descriptor_name":"GTP-Binding Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D019883","descriptor_name":"Alkyl and Aryl Transferases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020691","descriptor_name":"rab GTP-Binding Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D048868","descriptor_name":"Adaptor Proteins, Signal Transducing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051381","descriptor_name":"Rats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1074/jbc.270.41.24420","doi":"https://doi.org/10.1074/jbc.270.41.24420","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.270.41.24420","pdf_url":null,"source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},{"id":"pmid:7592656","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7592656","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":"The Journal of biological chemistry","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1074/jbc.270.41.24420","doi":"https://doi.org/10.1074/jbc.270.41.24420","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.270.41.24420","pdf_url":null,"source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.5683000087738037,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G7768474441","display_name":"Molecular Basis of Cholesterol Metabolism","funder_award_id":"P01HL020948","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320314023","display_name":"European Molecular Biology Laboratory","ror":"https://ror.org/050589e39"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":32,"referenced_works":["https://openalex.org/W1482012198","https://openalex.org/W1484367541","https://openalex.org/W1502443640","https://openalex.org/W1505669099","https://openalex.org/W1515291359","https://openalex.org/W1548178876","https://openalex.org/W1554671555","https://openalex.org/W1597915813","https://openalex.org/W1607745865","https://openalex.org/W1630481045","https://openalex.org/W1949772429","https://openalex.org/W1975968351","https://openalex.org/W1984646224","https://openalex.org/W1988420272","https://openalex.org/W1991195894","https://openalex.org/W1994123432","https://openalex.org/W2000072353","https://openalex.org/W2005574904","https://openalex.org/W2011070858","https://openalex.org/W2021011419","https://openalex.org/W2023025710","https://openalex.org/W2023062131","https://openalex.org/W2032266382","https://openalex.org/W2044630614","https://openalex.org/W2080817560","https://openalex.org/W2091325465","https://openalex.org/W2100837269","https://openalex.org/W2101222467","https://openalex.org/W2106976462","https://openalex.org/W2118434776","https://openalex.org/W2165018551","https://openalex.org/W2170786874"],"related_works":["https://openalex.org/W1597915813","https://openalex.org/W2039083442","https://openalex.org/W3182477062","https://openalex.org/W2000072353","https://openalex.org/W7213352105","https://openalex.org/W1985566364","https://openalex.org/W2105150204","https://openalex.org/W1975559173","https://openalex.org/W2148117680","https://openalex.org/W4410104816"],"abstract_inverted_index":{"Choroideremia,":[0],"an":[1],"X-linked":[2],"form":[3],"of":[4,24,106,110,150],"retinal":[5,126,141],"degeneration,":[6],"results":[7,135,145],"from":[8,146],"defects":[9],"in":[10,21,57,77,83,118,132,143],"the":[11,22,119,124,137,140,147],"Rab":[12,28,62,105],"escort":[13],"protein-1":[14],"(REP-1)":[15],"gene.":[16],"REP-1":[17,49,88],"and":[18,65,96,122],"REP-2":[19],"assist":[20],"attachment":[23],"geranylgeranyl":[25,63],"groups":[26],"to":[27,67],"GTPases,":[29],"a":[30,102,153],"modification":[31],"essential":[32],"for":[33,50],"their":[34],"action":[35],"as":[36,98],"molecular":[37],"switches":[38],"regulating":[39],"intracellular":[40],"vesicular":[41],"transport.":[42],"If":[43],"Rabs":[44],"that":[45,80,114,129,139],"depend":[46],"preferentially":[47],"on":[48],"prenylation":[51],"exist,":[52],"they":[53],"will":[54],"accumulate":[55],"unprenylated":[56,69,75],"choroideremia":[58,78,144],"cells.":[59],"Using":[60],"recombinant":[61],"transferase":[64],"REPs":[66],"label":[68],"cytosolic":[70],"proteins,":[71],"we":[72],"identified":[73,97],"one":[74],"protein":[76,93],"lymphoblasts":[79],"was":[81,94],"prenylated":[82],"vitro":[84],"more":[85],"efficiently":[86],"by":[87,90],"than":[89],"REP-2.":[91],"This":[92],"purified":[95],"Ram":[99],"(renamed":[100],"Rab27),":[101],"previously":[103],"cloned":[104],"unknown":[107],"function.":[108],"Immunohistochemistry":[109],"rat":[111],"retina":[112],"showed":[113],"Ram/Rab27":[115,151],"is":[116],"expressed":[117],"pigment":[120],"epithelium":[121],"choriocapillaris,":[123],"two":[125],"cell":[127],"layers":[128],"degenerate":[130],"earliest":[131],"choroideremia.":[133],"These":[134],"raise":[136],"possibility":[138],"degeneration":[142],"deficient":[148],"geranylgeranylation":[149],"or":[152],"closely":[154],"related":[155],"protein.":[156]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":8},{"year":2019,"cited_by_count":7},{"year":2018,"cited_by_count":8},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":9},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":7}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
