{"id":"https://openalex.org/W2134014535","doi":"https://doi.org/10.1007/s00125-013-3029-3","title":"Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms","display_name":"Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms","publication_year":2013,"publication_date":"2013-08-29","ids":{"openalex":"https://openalex.org/W2134014535","doi":"https://doi.org/10.1007/s00125-013-3029-3","mag":"2134014535","pmid":"https://pubmed.ncbi.nlm.nih.gov/23989774","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3824349"},"language":"en","primary_location":{"id":"doi:10.1007/s00125-013-3029-3","doi":"https://doi.org/10.1007/s00125-013-3029-3","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s00125-013-3029-3","pdf_url":"https://link.springer.com/content/pdf/10.1007/s00125-013-3029-3.pdf","source":{"id":"https://openalex.org/S104375418","display_name":"Diabetologia","issn_l":"0012-186X","issn":["0012-186X","1432-0428"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","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":"Diabetologia","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://link.springer.com/content/pdf/10.1007/s00125-013-3029-3.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5005402229","display_name":"M. F. Michelle Sim","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I4210116691","display_name":"Wellcome/MRC Institute of Metabolic Science","ror":"https://ror.org/0264dxb48","country_code":"GB","type":"facility","lineage":["https://openalex.org/I241749","https://openalex.org/I2802466933","https://openalex.org/I4210087105","https://openalex.org/I4210116691","https://openalex.org/I87048295","https://openalex.org/I90344618"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M. F. Michelle Sim","raw_affiliation_strings":["University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UK","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210116691","https://openalex.org/I4210156194"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070810950","display_name":"Mesbah Talukder","orcid":"https://orcid.org/0000-0003-0691-640X","observed_orcids":["https://orcid.org/0000-0003-0691-640X"]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M. Mesbah Uddin Talukder","raw_affiliation_strings":["Department of Pharmacology, University of Cambridge, Cambridge, UK","University of Cambridge,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, University of Cambridge, Cambridge, UK","institution_ids":["https://openalex.org/I241749"]},{"raw_affiliation_string":"University of Cambridge,","institution_ids":["https://openalex.org/I241749"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111119379","display_name":"Rowena J. Dennis","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I4210116691","display_name":"Wellcome/MRC Institute of Metabolic Science","ror":"https://ror.org/0264dxb48","country_code":"GB","type":"facility","lineage":["https://openalex.org/I241749","https://openalex.org/I2802466933","https://openalex.org/I4210087105","https://openalex.org/I4210116691","https://openalex.org/I87048295","https://openalex.org/I90344618"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Rowena J. Dennis","raw_affiliation_strings":["University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke\u2019s Hospital, Cambridge, UK","Addenbrooke\u2019s Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke\u2019s Hospital, Cambridge, UK","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210116691","https://openalex.org/I4210156194"]},{"raw_affiliation_string":"Addenbrooke\u2019s Hospital","institution_ids":["https://openalex.org/I4210156194"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013261212","display_name":"Stephen O\u2019Rahilly","orcid":"https://orcid.org/0000-0003-2199-4449","observed_orcids":["https://orcid.org/0000-0003-2199-4449"]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I4210116691","display_name":"Wellcome/MRC Institute of Metabolic Science","ror":"https://ror.org/0264dxb48","country_code":"GB","type":"facility","lineage":["https://openalex.org/I241749","https://openalex.org/I2802466933","https://openalex.org/I4210087105","https://openalex.org/I4210116691","https://openalex.org/I87048295","https://openalex.org/I90344618"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Stephen O\u2019Rahilly","raw_affiliation_strings":["University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke\u2019s Hospital, Cambridge, UK","Addenbrooke\u2019s Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke\u2019s Hospital, Cambridge, UK","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210116691","https://openalex.org/I4210156194"]},{"raw_affiliation_string":"Addenbrooke\u2019s Hospital","institution_ids":["https://openalex.org/I4210156194"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070875674","display_name":"John Michael Edwardson","orcid":"https://orcid.org/0000-0003-0499-7795","observed_orcids":["https://orcid.org/0000-0003-0499-7795"]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"J. Michael Edwardson","raw_affiliation_strings":["Department of Pharmacology, University of Cambridge, Cambridge, UK","University of Cambridge,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, University of Cambridge, Cambridge, UK","institution_ids":["https://openalex.org/I241749"]},{"raw_affiliation_string":"University of Cambridge,","institution_ids":["https://openalex.org/I241749"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5048328515","display_name":"Justin J. Rochford","orcid":"https://orcid.org/0000-0002-5020-4939","observed_orcids":["https://orcid.org/0000-0002-5020-4939"]},"institutions":[{"id":"https://openalex.org/I195460627","display_name":"University of Aberdeen","ror":"https://ror.org/016476m91","country_code":"GB","type":"education","lineage":["https://openalex.org/I195460627"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Justin J. Rochford","raw_affiliation_strings":["Rowett Institute of Nutrition and Health, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, AB25 2ZD, UK","University of Aberdeen"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rowett Institute of Nutrition and Health, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, AB25 2ZD, UK","institution_ids":["https://openalex.org/I195460627"]},{"raw_affiliation_string":"University of Aberdeen","institution_ids":["https://openalex.org/I195460627"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5048328515"],"corresponding_institution_ids":["https://openalex.org/I195460627"],"apc_list":{"value":3490,"currency":"USD","value_usd":3490},"apc_paid":{"value":3490,"currency":"USD","value_usd":3490},"fwci":1.8295,"has_fulltext":true,"cited_by_count":43,"citation_normalized_percentile":{"value":0.84158997,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":98},"biblio":{"volume":"56","issue":"11","first_page":"2498","last_page":"2506"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11844","display_name":"Lipid metabolism and biosynthesis","score":0.551800012588501,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/T11844","display_name":"Lipid metabolism and biosynthesis","score":0.551800012588501,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/T11457","display_name":"Adipose Tissue and Metabolism","score":0.22849999368190765,"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/T13430","display_name":"Lipid metabolism and disorders","score":0.09780000150203705,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/seipin","display_name":"seipin","score":0.9990000128746033},{"id":"https://openalex.org/keywords/bscl2","display_name":"BSCL2","score":0.9950000047683716},{"id":"https://openalex.org/keywords/premature-termination-codon","display_name":"premature stop codon","score":0.640999972820282},{"id":"https://openalex.org/keywords/single-amino-acid-substitution","display_name":"single amino acid substitution","score":0.8550000190734863},{"id":"https://openalex.org/keywords/lipin-1","display_name":"LPIN1","score":0.902999997138977},{"id":"https://openalex.org/keywords/phosphatidic-acid-phosphatase","display_name":"phosphatidate phosphohydrolase","score":0.8960000276565552},{"id":"https://openalex.org/keywords/protein-oligomerization","display_name":"protein oligomerization","score":0.7009999752044678},{"id":"https://openalex.org/keywords/protein-localization","display_name":"protein localization","score":0.6110000014305115},{"id":"https://openalex.org/keywords/preadipocytes","display_name":"preadipocytes","score":0.8289999961853027},{"id":"https://openalex.org/keywords/insulin-resistance","display_name":"insulin resistance","score":0.753000020980835},{"id":"https://openalex.org/keywords/dyslipidemia","display_name":"dyslipidemia","score":0.699999988079071},{"id":"https://openalex.org/keywords/pathogenesis","display_name":"pathogenesis","score":0.5740000009536743}],"concepts":[{"id":"https://openalex.org/C2780941825","wikidata":"https://www.wikidata.org/wiki/Q1538213","display_name":"Lipodystrophy","level":5,"score":0.7072818875312805},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.6823561191558838},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5600721836090088},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5523717999458313},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.49246296286582947},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3555087149143219},{"id":"https://openalex.org/C2522874641","wikidata":"https://www.wikidata.org/wiki/Q808","display_name":"Virus","level":2,"score":0.0},{"id":"https://openalex.org/C2993143319","wikidata":"https://www.wikidata.org/wiki/Q583050","display_name":"Antiretroviral therapy","level":4,"score":0.0},{"id":"https://openalex.org/C142462285","wikidata":"https://www.wikidata.org/wiki/Q2528140","display_name":"Viral load","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005455","descriptor_name":"Fluorescent Antibody Technique","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":"D008060","descriptor_name":"Lipodystrophy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008060","descriptor_name":"Lipodystrophy","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D008060","descriptor_name":"Lipodystrophy","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015151","descriptor_name":"Immunoblotting","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017667","descriptor_name":"Adipocytes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018625","descriptor_name":"Microscopy, Atomic Force","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020962","descriptor_name":"Heterotrimeric GTP-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020962","descriptor_name":"Heterotrimeric GTP-Binding Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D044388","descriptor_name":"GTP-Binding Protein gamma Subunits","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D044388","descriptor_name":"GTP-Binding Protein gamma Subunits","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D047468","descriptor_name":"Immunoprecipitation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1007/s00125-013-3029-3","doi":"https://doi.org/10.1007/s00125-013-3029-3","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s00125-013-3029-3","pdf_url":"https://link.springer.com/content/pdf/10.1007/s00125-013-3029-3.pdf","source":{"id":"https://openalex.org/S104375418","display_name":"Diabetologia","issn_l":"0012-186X","issn":["0012-186X","1432-0428"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","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":"Diabetologia","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2820704","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3824349","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3824349","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3824349","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-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Diabetologia","raw_type":"Text"},{"id":"pmid:23989774","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23989774","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":"Diabetologia","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.789.9101","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.789.9101","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/6e/82/125_2013_Article_3029.PMC3824349.pdf","raw_type":"text"},{"id":"pmh:oai:aura.abdn.ac.uk:2164/3407","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2164/3407","pdf_url":null,"source":{"id":"https://openalex.org/S4306400966","display_name":"Aberdeen University Research Archive (Aberdeen University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I195460627","host_organization_name":"University of Aberdeen","host_organization_lineage":["https://openalex.org/I195460627"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Journal article"}],"best_oa_location":{"id":"doi:10.1007/s00125-013-3029-3","doi":"https://doi.org/10.1007/s00125-013-3029-3","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s00125-013-3029-3","pdf_url":"https://link.springer.com/content/pdf/10.1007/s00125-013-3029-3.pdf","source":{"id":"https://openalex.org/S104375418","display_name":"Diabetologia","issn_l":"0012-186X","issn":["0012-186X","1432-0428"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","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":"Diabetologia","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1535627680","display_name":"Insulin Resistance: Lessons from Extreme Phenotypes.","funder_award_id":"095515","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G1726873189","display_name":"Molecular mechanisms in human insulin resistance.","funder_award_id":"078986/Z/06/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G3837164428","display_name":"Institute of Metabolic Science.","funder_award_id":"100574","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G5705735952","display_name":"Deciphering the molecular architecture of NMDA receptor complexes using atomic force microscopy.","funder_award_id":"089125/Z/09/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"}],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2134014535.pdf","grobid_xml":"https://content.openalex.org/works/W2134014535.grobid-xml"},"referenced_works_count":28,"referenced_works":["https://openalex.org/W1965126423","https://openalex.org/W1968685639","https://openalex.org/W1977689678","https://openalex.org/W1985649195","https://openalex.org/W1989571181","https://openalex.org/W1993484144","https://openalex.org/W2014560331","https://openalex.org/W2023053172","https://openalex.org/W2027258013","https://openalex.org/W2035335697","https://openalex.org/W2036747220","https://openalex.org/W2039252539","https://openalex.org/W2043860882","https://openalex.org/W2059790662","https://openalex.org/W2063954019","https://openalex.org/W2065235307","https://openalex.org/W2068859969","https://openalex.org/W2073482601","https://openalex.org/W2079752269","https://openalex.org/W2099745966","https://openalex.org/W2130646613","https://openalex.org/W2132205533","https://openalex.org/W2132468746","https://openalex.org/W2136238917","https://openalex.org/W2138956168","https://openalex.org/W2152919292","https://openalex.org/W2168734886","https://openalex.org/W2169734236"],"related_works":["https://openalex.org/W2120820877","https://openalex.org/W1964183737","https://openalex.org/W7097749763","https://openalex.org/W7098946411","https://openalex.org/W4283015531","https://openalex.org/W2006877714","https://openalex.org/W2169734236","https://openalex.org/W4309660597","https://openalex.org/W2785386055","https://openalex.org/W2120117726"],"abstract_inverted_index":{"AIMS/HYPOTHESIS:":[0],"In":[1],"humans,":[2],"disruption":[3],"of":[4,37,82,127,143,162,201,215,229,231],"the":[5,9,24,34,114,140,153,159,170,182,210,223],"gene":[6,26],"BSCL2,":[7],"encoding":[8],"protein":[10],"seipin,":[11],"causes":[12],"congenital":[13],"generalised":[14],"lipodystrophy":[15,234],"(CGL)":[16],"with":[17],"severe":[18],"insulin":[19],"resistance":[20],"and":[21,55,101,105,145,187,212,235],"dyslipidaemia.":[22],"While":[23,169],"causative":[25],"has":[27],"been":[28,63],"known":[29],"for":[30],"over":[31],"a":[32,122,205],"decade,":[33],"molecular":[35,125,239],"functions":[36],"seipin":[38,83,99,128,144,163,198,216,232],"are":[39],"only":[40],"now":[41],"being":[42],"uncovered.":[43],"Most":[44],"pathogenic":[45],"mutations":[46,61,244],"in":[47,129,167,204],"BSCL2":[48],"represent":[49],"substantial":[50],"disruptions":[51],"including":[52],"significant":[53],"deletions":[54],"frameshifts.":[56],"However,":[57],"several":[58,237],"more":[59],"subtle":[60],"have":[62,77],"reported":[64],"that":[65,158,195,209],"cause":[66,91,246],"premature":[67,172],"stop":[68,173],"codons":[69],"or":[70],"single":[71],"amino":[72],"acid":[73,118],"substitutions.":[74],"Here":[75],"we":[76,133],"examined":[78],"these":[79,243],"mutant":[80,98,161,174],"forms":[81,175,199],"to":[84,112,138,146,177],"gain":[85],"insight":[86],"into":[87],"how":[88],"they":[89],"may":[90,245],"CGL.":[92],"METHODS:":[93],"We":[94,107,156,193],"generated":[95],"constructs":[96],"expressing":[97],"proteins":[100],"determined":[102],"their":[103,110],"expression":[104],"localisation.":[106],"also":[108],"assessed":[109],"capacity":[111],"recruit":[113],"key":[115],"adipogenic":[116],"phosphatidic":[117],"phosphatase":[119],"lipin":[120,179],"1,":[121],"recently":[123],"identified":[124],"role":[126],"developing":[130],"adipocytes.":[131],"Finally,":[132],"used":[134],"atomic":[135],"force":[136],"microscopy":[137],"define":[139],"oligomeric":[141],"structure":[142],"determine":[147],"whether":[148],"this":[149,191],"is":[150,164],"affected":[151],"by":[152,241],"mutations.":[154],"RESULTS:":[155],"show":[157],"R275X":[160],"not":[165],"expressed":[166],"pre-adipocytes.":[168],"other":[171],"fail":[176],"bind":[178],"1":[180],"appropriately,":[181],"point":[183],"mutants":[184,214,230],"T78A,":[185],"L91P":[186,211],"A212P":[188,213],"all":[189],"retain":[190],"capacity.":[192],"demonstrate":[194],"wild-type":[196],"human":[197],"oligomers":[200],"12":[202],"subunits":[203],"circular":[206],"configuration":[207],"but":[208],"do":[217],"not.":[218],"CONCLUSIONS/INTERPRETATION:":[219],"Our":[220],"study":[221],"represents":[222],"most":[224],"comprehensive":[225],"analysis":[226],"so":[227],"far":[228],"causing":[233],"reveals":[236],"different":[238],"mechanisms":[240],"which":[242],"disease.":[247]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":6},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":6},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":6}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
