{"id":"https://openalex.org/W4400624649","doi":"https://doi.org/10.1016/j.jbc.2024.107562","title":"A quantitative pipeline to assess secretion of human leptin coding variants reveals mechanisms underlying leptin deficiencies","display_name":"A quantitative pipeline to assess secretion of human leptin coding variants reveals mechanisms underlying leptin deficiencies","publication_year":2024,"publication_date":"2024-07-14","ids":{"openalex":"https://openalex.org/W4400624649","doi":"https://doi.org/10.1016/j.jbc.2024.107562","pmid":"https://pubmed.ncbi.nlm.nih.gov/39002670","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11366920"},"language":"en","primary_location":{"id":"doi:10.1016/j.jbc.2024.107562","doi":"https://doi.org/10.1016/j.jbc.2024.107562","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jbc.2024.107562","pdf_url":"http://www.jbc.org/article/S0021925824020635/pdf","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":true,"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","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"http://www.jbc.org/article/S0021925824020635/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5088253545","display_name":"Harry J. M. Baird","orcid":"https://orcid.org/0000-0003-0763-3786","observed_orcids":["https://orcid.org/0000-0003-0763-3786"]},"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"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Harry J.M. Baird","raw_affiliation_strings":["Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom"],"raw_orcid":"https://orcid.org/0000-0003-0763-3786","affiliations":[{"raw_affiliation_string":"Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210116691"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075400339","display_name":"Amber S. Shun-Shion","orcid":"https://orcid.org/0000-0001-6439-7893","observed_orcids":["https://orcid.org/0000-0001-6439-7893"]},"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"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Amber S. Shun-Shion","raw_affiliation_strings":["Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210116691"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044508545","display_name":"Edson Mendes de Oliveira","orcid":"https://orcid.org/0000-0002-7330-7826","observed_orcids":["https://orcid.org/0000-0002-7330-7826"]},"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"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Edson Mendes de Oliveira","raw_affiliation_strings":["Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom"],"raw_orcid":"https://orcid.org/0000-0002-7330-7826","affiliations":[{"raw_affiliation_string":"Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210116691"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040512545","display_name":"Dani\u00e8le Stalder","orcid":"https://orcid.org/0000-0002-6996-4006","observed_orcids":["https://orcid.org/0000-0002-6996-4006"]},"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":"Dani\u00e8le Stalder","raw_affiliation_strings":["Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I241749"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Lu Liang","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"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Lu Liang","raw_affiliation_strings":["Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210116691"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006339757","display_name":"Jessica Eden","orcid":"https://orcid.org/0000-0002-3204-5583","observed_orcids":["https://orcid.org/0000-0002-3204-5583"]},"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":"Jessica Eden","raw_affiliation_strings":["Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom"],"raw_orcid":"https://orcid.org/0000-0002-3204-5583","affiliations":[{"raw_affiliation_string":"Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I241749"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017902096","display_name":"Joseph E. Chambers","orcid":"https://orcid.org/0000-0003-4675-0053","observed_orcids":["https://orcid.org/0000-0003-4675-0053"]},"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":"Joseph E. Chambers","raw_affiliation_strings":["Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I241749"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005912071","display_name":"I. Sadaf Farooqi","orcid":"https://orcid.org/0000-0001-7609-3504","observed_orcids":["https://orcid.org/0000-0001-7609-3504"]},"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"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"I. Sadaf Farooqi","raw_affiliation_strings":["Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom. Electronic address: isf20@cam.ac.uk","Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom. Electronic address: isf20@cam.ac.uk","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210116691"]},{"raw_affiliation_string":"Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210116691"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086698922","display_name":"David C. Gershlick","orcid":"https://orcid.org/0000-0002-0602-210X","observed_orcids":["https://orcid.org/0000-0002-0602-210X"]},"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":true,"raw_author_name":"David C. Gershlick","raw_affiliation_strings":["Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom. Electronic address: dg553@cam.ac.uk","Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom. Electronic address: dg553@cam.ac.uk","institution_ids":["https://openalex.org/I241749"]},{"raw_affiliation_string":"Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I241749"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5005104757","display_name":"Daniel J. Fazakerley","orcid":"https://orcid.org/0000-0001-8241-2903","observed_orcids":["https://orcid.org/0000-0001-8241-2903"]},"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"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Daniel J. Fazakerley","raw_affiliation_strings":["Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom. Electronic address: djf72@cam.ac.uk","Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom. Electronic address: djf72@cam.ac.uk","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210116691"]},{"raw_affiliation_string":"Metabolic Research Laboratory, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210116691"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5005104757","https://openalex.org/A5005912071","https://openalex.org/A5086698922"],"corresponding_institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210116691"],"apc_list":{"value":2800,"currency":"USD","value_usd":2800},"apc_paid":{"value":2800,"currency":"USD","value_usd":2800},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"300","issue":"8","first_page":"107562","last_page":"107562"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10489","display_name":"Regulation of Appetite and Obesity","score":0.42899999022483826,"subfield":{"id":"https://openalex.org/subfields/2807","display_name":"Endocrine and Autonomic Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10489","display_name":"Regulation of Appetite and Obesity","score":0.42899999022483826,"subfield":{"id":"https://openalex.org/subfields/2807","display_name":"Endocrine and Autonomic Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10617","display_name":"Cellular transport and secretion","score":0.2615000009536743,"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/T10528","display_name":"Adipokines, Inflammation, and Metabolic Diseases","score":0.13920000195503235,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/leptin","display_name":"leptin","score":0.9959999918937683},{"id":"https://openalex.org/keywords/leptin-deficiency","display_name":"leptin deficiency","score":0.7089999914169312},{"id":"https://openalex.org/keywords/leptin-secretion","display_name":"leptin secretion","score":0.7459999918937683},{"id":"https://openalex.org/keywords/secretory-pathway","display_name":"secretory pathway","score":0.8999999761581421},{"id":"https://openalex.org/keywords/proteasomal-degradation","display_name":"proteasomal degradation","score":0.8629999756813049},{"id":"https://openalex.org/keywords/disulfide-bond-formation","display_name":"disulfide bond formation","score":0.9860000014305115},{"id":"https://openalex.org/keywords/obesity","display_name":"obesity","score":0.703000009059906},{"id":"https://openalex.org/keywords/hyperphagia","display_name":"hyperphagia","score":0.8939999938011169},{"id":"https://openalex.org/keywords/energy-homeostasis","display_name":"energy homeostasis","score":0.7239999771118164},{"id":"https://openalex.org/keywords/secreted-proteins","display_name":"secreted proteins","score":0.675000011920929}],"concepts":[{"id":"https://openalex.org/C2780613262","wikidata":"https://www.wikidata.org/wiki/Q223739","display_name":"Leptin","level":3,"score":0.9227180480957031},{"id":"https://openalex.org/C49039625","wikidata":"https://www.wikidata.org/wiki/Q84230","display_name":"Secretion","level":2,"score":0.4983060359954834},{"id":"https://openalex.org/C179518139","wikidata":"https://www.wikidata.org/wiki/Q5140297","display_name":"Coding (social sciences)","level":2,"score":0.4888738989830017},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.46373099088668823},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4581126570701599},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.24721282720565796},{"id":"https://openalex.org/C511355011","wikidata":"https://www.wikidata.org/wiki/Q12174","display_name":"Obesity","level":2,"score":0.10596337914466858},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.09461319446563721},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.0768871009349823}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009765","descriptor_name":"Obesity","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009765","descriptor_name":"Obesity","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020738","descriptor_name":"Leptin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020738","descriptor_name":"Leptin","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D046988","descriptor_name":"Proteasome Endopeptidase Complex","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D046988","descriptor_name":"Proteasome Endopeptidase Complex","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D054411","descriptor_name":"Receptors, Leptin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054411","descriptor_name":"Receptors, Leptin","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D055571","descriptor_name":"Secretory Pathway","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057809","descriptor_name":"HEK293 Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1016/j.jbc.2024.107562","doi":"https://doi.org/10.1016/j.jbc.2024.107562","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jbc.2024.107562","pdf_url":"http://www.jbc.org/article/S0021925824020635/pdf","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":true,"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":"doi:10.1101/2024.03.01.582913","doi":"https://doi.org/10.1101/2024.03.01.582913","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2024.03.01.582913","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2024/03/02/2024.03.01.582913.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:11366920","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11366920","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11366920/pdf/main.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":"J Biol Chem","raw_type":"Text"},{"id":"pmid:39002670","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39002670","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"},{"id":"pmh:oai:www.repository.cam.ac.uk:1810/371105","doi":null,"is_oa":true,"landing_page_url":"https://www.repository.cam.ac.uk/handle/1810/371105","pdf_url":null,"source":{"id":"https://openalex.org/S4306401777","display_name":"Apollo (University of Cambridge)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I241749","host_organization_name":"University of Cambridge","host_organization_lineage":["https://openalex.org/I241749"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"},{"id":"doi:10.17863/cam.110405","doi":"https://doi.org/10.17863/cam.110405","is_oa":true,"landing_page_url":"https://doi.org/10.17863/cam.110405","pdf_url":null,"source":{"id":"https://openalex.org/S7407050737","display_name":"Apollo","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":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"}],"best_oa_location":{"id":"doi:10.1016/j.jbc.2024.107562","doi":"https://doi.org/10.1016/j.jbc.2024.107562","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jbc.2024.107562","pdf_url":"http://www.jbc.org/article/S0021925824020635/pdf","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":true,"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":0.9074000120162964,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G190318468","display_name":"Molecular mechanisms of impaired glucose transport in insulin resistance","funder_award_id":"MR/S007091/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G3061463318","display_name":"Mapping and characterising constitutive secretion in human neurons","funder_award_id":"BB/W005905/1","funder_id":"https://openalex.org/F4320334629","funder_display_name":"Biotechnology and Biological Sciences Research Council"},{"id":"https://openalex.org/G339059223","display_name":null,"funder_award_id":"Z/17/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G3477944795","display_name":"Spatiotemporally resolved proteomics of protein trafficking pathways","funder_award_id":"210481","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G3652455175","display_name":null,"funder_award_id":"208363/Z/17/Z","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G4141580393","display_name":null,"funder_award_id":"MC_UU_00014/5","funder_id":"https://openalex.org/F4320319990","funder_display_name":"National Institute for Health and Care Research"},{"id":"https://openalex.org/G4364818830","display_name":"Enabling technologies","funder_award_id":"MC_UU_00014/5","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G4962981257","display_name":"Spatiotemporally resolved proteomics of protein trafficking pathways","funder_award_id":"210481/Z/18/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G5330140934","display_name":null,"funder_award_id":"BB/M011194","funder_id":"https://openalex.org/F4320334629","funder_display_name":"Biotechnology and Biological Sciences Research Council"},{"id":"https://openalex.org/G5343748028","display_name":"Institutional Strategic Support Fund","funder_award_id":"204845/Z/16/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G5532520088","display_name":"The University of Cambridge Metabolic Research Laboratories, Wellcome-MRC Institute of Metabolic Science, Cambridge","funder_award_id":"208363/Z/17/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G560731474","display_name":"Cambridge Doctoral Training Partnership - 2","funder_award_id":"BB/M011194/1","funder_id":"https://openalex.org/F4320334629","funder_display_name":"Biotechnology and Biological Sciences Research Council"},{"id":"https://openalex.org/G6053259458","display_name":"Fundamental mechanisms controlling human energy homeostasis","funder_award_id":"207462/Z/17/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G6432094593","display_name":null,"funder_award_id":"MC_UU_00014/5","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G6440634711","display_name":null,"funder_award_id":"MC_UU_00014/5","funder_id":"https://openalex.org/F4320320625","funder_display_name":"Association for Clinical Biochemistry"}],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320319990","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08"},{"id":"https://openalex.org/F4320320625","display_name":"Association for Clinical Biochemistry","ror":"https://ror.org/05s8mns17"},{"id":"https://openalex.org/F4320322436","display_name":"Novo Nordisk","ror":"https://ror.org/0435rc536"},{"id":"https://openalex.org/F4320326958","display_name":"Fondation Botnar","ror":"https://ror.org/033ztm745"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320334629","display_name":"Biotechnology and Biological Sciences Research Council","ror":"https://ror.org/00cwqg982"},{"id":"https://openalex.org/F4320334635","display_name":"Cambridge Institute for Medical Research, University of Cambridge","ror":null},{"id":"https://openalex.org/F4320336709","display_name":"NIHR Cambridge Biomedical Research Centre","ror":"https://ror.org/05m8dr349"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4400624649.pdf","grobid_xml":"https://content.openalex.org/works/W4400624649.grobid-xml"},"referenced_works_count":45,"referenced_works":["https://openalex.org/W1198101293","https://openalex.org/W1512875938","https://openalex.org/W1591585742","https://openalex.org/W1639930240","https://openalex.org/W1895331648","https://openalex.org/W1911334544","https://openalex.org/W2003012378","https://openalex.org/W2008134622","https://openalex.org/W2010378383","https://openalex.org/W2026187804","https://openalex.org/W2036239274","https://openalex.org/W2037657846","https://openalex.org/W2040960819","https://openalex.org/W2042316959","https://openalex.org/W2047798154","https://openalex.org/W2053426841","https://openalex.org/W2067502809","https://openalex.org/W2078745862","https://openalex.org/W2081103194","https://openalex.org/W2097542090","https://openalex.org/W2100474316","https://openalex.org/W2116451646","https://openalex.org/W2125510262","https://openalex.org/W2131530831","https://openalex.org/W2133698718","https://openalex.org/W2137189444","https://openalex.org/W2138152079","https://openalex.org/W2138304893","https://openalex.org/W2140369823","https://openalex.org/W2145665255","https://openalex.org/W2148790741","https://openalex.org/W2152210548","https://openalex.org/W2168361725","https://openalex.org/W2324976104","https://openalex.org/W2461352355","https://openalex.org/W2727945177","https://openalex.org/W2811161480","https://openalex.org/W2921251124","https://openalex.org/W2992895139","https://openalex.org/W3015975655","https://openalex.org/W3023590906","https://openalex.org/W3177828909","https://openalex.org/W4254011454","https://openalex.org/W4324303404","https://openalex.org/W4380564237"],"related_works":["https://openalex.org/W4249736385","https://openalex.org/W2144397069","https://openalex.org/W2811161480","https://openalex.org/W1984335413","https://openalex.org/W7095729622","https://openalex.org/W4230939713","https://openalex.org/W3103618000","https://openalex.org/W4380422646","https://openalex.org/W3087555205","https://openalex.org/W2437007381"],"abstract_inverted_index":{"The":[0],"hormone":[1],"leptin,":[2],"primarily":[3,29],"secreted":[4,223],"by":[5,49],"adipocytes,":[6],"plays":[7],"a":[8,83,131,139],"crucial":[9],"role":[10],"in":[11,19,32,40,58,70,94,99],"regulating":[12],"whole-body":[13],"energy":[14],"homeostasis.":[15],"Homozygous":[16],"loss-of-function":[17],"mutations":[18,172],"the":[20,59,71,75,79,87,100,112,120,136,151],"leptin":[21,42,64,149,167,179,186,202],"gene":[22,53],"(LEP)":[23],"cause":[24],"hyperphagia":[25],"and":[26,90,180,210],"severe":[27],"obesity,":[28],"through":[30,189],"alterations":[31],"leptin's":[33],"affinity":[34],"for":[35,134,208,221],"its":[36,66],"receptor":[37],"or":[38],"changes":[39],"serum":[41,45,81],"concentrations.":[43],"Although":[44],"concentrations":[46],"are":[47],"influenced":[48],"various":[50],"factors":[51],"(e.g.,":[52],"expression,":[54],"protein":[55],"synthesis,":[56],"stability":[57],"serum),":[60],"proper":[61],"delivery":[62],"of":[63,68,102,123,138,141,166,178,201],"from":[65],"site":[67],"synthesis":[69],"endoplasmic":[72],"reticulum":[73],"via":[74],"secretory":[76,121,153],"pathway":[77,122],"to":[78,118,162,175],"extracellular":[80],"is":[82],"critical":[84],"step.":[85],"However,":[86],"regulatory":[88,158],"mechanisms":[89],"specific":[91],"machinery":[92],"involved":[93],"this":[95,128],"trafficking":[96],"route,":[97],"particularly":[98],"context":[101],"human":[103],"LEP":[104,143],"mutations,":[105],"remain":[106],"largely":[107],"unexplored.":[108],"We":[109,125],"have":[110,126,196],"employed":[111],"Retention":[113],"Using":[114],"Selective":[115],"Hooks":[116],"system":[117,129],"elucidate":[119],"leptin.":[124],"refined":[127],"into":[130],"medium-throughput":[132],"assay":[133],"examining":[135],"pathophysiology":[137],"range":[140],"obesity-associated":[142],"variants.":[144],"Our":[145],"results":[146],"reveal":[147],"that":[148,173,183],"follows":[150],"default":[152],"pathway,":[154],"with":[155],"no":[156],"additional":[157],"steps":[159],"identified":[160,170,197],"prior":[161],"secretion.":[163],"Through":[164],"screening":[165,216],"variants,":[168,203],"we":[169],"three":[171],"lead":[174],"proteasomal":[176],"degradation":[177],"one":[181],"variant":[182],"significantly":[184],"decreased":[185],"secretion,":[187],"likely":[188],"aberrant":[190],"disulfide":[191],"bond":[192],"formation.":[193],"These":[194],"observations":[195],"novel":[198,214],"pathogenic":[199],"effects":[200],"which":[204],"can":[205,218],"be":[206,219],"informative":[207],"therapeutics":[209],"diagnostics.":[211],"Finally,":[212],"our":[213],"quantitative":[215],"platform":[217],"adapted":[220],"other":[222],"proteins.":[224]},"counts_by_year":[],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2024-07-15T00:00:00"}
