{"id":"https://openalex.org/W4301394684","doi":"https://doi.org/10.7554/elife.79278.sa2","title":"Author response: Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway","display_name":"Author response: Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway","publication_year":2022,"publication_date":"2022-09-02","ids":{"openalex":"https://openalex.org/W4301394684","doi":"https://doi.org/10.7554/elife.79278.sa2"},"language":"en","primary_location":{"id":"doi:10.7554/elife.79278.sa2","doi":"https://doi.org/10.7554/elife.79278.sa2","is_oa":true,"landing_page_url":"https://doi.org/10.7554/elife.79278.sa2","pdf_url":null,"source":{"id":"https://openalex.org/S1336409049","display_name":"eLife","issn_l":"2050-084X","issn":["2050-084X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311710","host_organization_name":"eLife Sciences Publications Ltd","host_organization_lineage":["https://openalex.org/P4310311710"],"host_organization_lineage_names":["eLife Sciences Publications Ltd"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"peer-review"},"volume":null,"type":"peer-review","indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.7554/elife.79278.sa2","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5032130502","display_name":"Tolulope Sokoya","orcid":"https://orcid.org/0000-0002-0398-4450","observed_orcids":["https://orcid.org/0000-0002-0398-4450"]},"institutions":[{"id":"https://openalex.org/I170658231","display_name":"Osnabr\u00fcck University","ror":"https://ror.org/04qmmjx98","country_code":"DE","type":"education","lineage":["https://openalex.org/I170658231"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Tolulope Sokoya","raw_affiliation_strings":["Molecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University","institution_ids":["https://openalex.org/I170658231"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023395374","display_name":"Jan Parolek","orcid":"https://orcid.org/0000-0002-2182-6173","observed_orcids":["https://orcid.org/0000-0002-2182-6173"]},"institutions":[{"id":"https://openalex.org/I170658231","display_name":"Osnabr\u00fcck University","ror":"https://ror.org/04qmmjx98","country_code":"DE","type":"education","lineage":["https://openalex.org/I170658231"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Jan Parolek","raw_affiliation_strings":["Molecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University","institution_ids":["https://openalex.org/I170658231"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062043756","display_name":"Mads M\u00f8ller Foged","orcid":"https://orcid.org/0000-0003-2225-6114","observed_orcids":["https://orcid.org/0000-0003-2225-6114"]},"institutions":[{"id":"https://openalex.org/I4210148920","display_name":"Danish Cancer Society","ror":"https://ror.org/03ytt7k16","country_code":"DK","type":"nonprofit","lineage":["https://openalex.org/I4210148920"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Mads M\u00f8ller Foged","raw_affiliation_strings":["Cell Death and Metabolism Group, Center for Autophagy, Recycling and Disease, Danish Cancer Society Research Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cell Death and Metabolism Group, Center for Autophagy, Recycling and Disease, Danish Cancer Society Research Center","institution_ids":["https://openalex.org/I4210148920"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037704217","display_name":"Dmytro I. Danylchuk","orcid":"https://orcid.org/0000-0002-1457-9370","observed_orcids":["https://orcid.org/0000-0002-1457-9370"]},"institutions":[{"id":"https://openalex.org/I4405257448","display_name":"Laboratoire de bioimagerie et pathologies","ror":"https://ror.org/059g0vd42","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I4405257448","https://openalex.org/I68947357"]},{"id":"https://openalex.org/I68947357","display_name":"Universit\u00e9 de Strasbourg","ror":"https://ror.org/00pg6eq24","country_code":"FR","type":"education","lineage":["https://openalex.org/I68947357"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Dmytro I Danylchuk","raw_affiliation_strings":["Laboratoire de Bioimagerie et Pathologies, Universit\u00e9 de Strasbourg"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Bioimagerie et Pathologies, Universit\u00e9 de Strasbourg","institution_ids":["https://openalex.org/I4405257448","https://openalex.org/I68947357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053727720","display_name":"Manuel Bozan","orcid":"https://orcid.org/0000-0001-8426-369X","observed_orcids":["https://orcid.org/0000-0001-8426-369X"]},"institutions":[{"id":"https://openalex.org/I170658231","display_name":"Osnabr\u00fcck University","ror":"https://ror.org/04qmmjx98","country_code":"DE","type":"education","lineage":["https://openalex.org/I170658231"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Manuel Bozan","raw_affiliation_strings":["Molecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University"],"raw_orcid":"https://orcid.org/0000-0001-8426-369X","affiliations":[{"raw_affiliation_string":"Molecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University","institution_ids":["https://openalex.org/I170658231"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019539132","display_name":"Bingshati Sarkar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I170658231","display_name":"Osnabr\u00fcck University","ror":"https://ror.org/04qmmjx98","country_code":"DE","type":"education","lineage":["https://openalex.org/I170658231"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Bingshati Sarkar","raw_affiliation_strings":["Molecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University","institution_ids":["https://openalex.org/I170658231"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014083873","display_name":"Angelika Hilderink","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I170658231","display_name":"Osnabr\u00fcck University","ror":"https://ror.org/04qmmjx98","country_code":"DE","type":"education","lineage":["https://openalex.org/I170658231"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Angelika Hilderink","raw_affiliation_strings":["Molecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University","institution_ids":["https://openalex.org/I170658231"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089799041","display_name":"Michael Philippi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I170658231","display_name":"Osnabr\u00fcck University","ror":"https://ror.org/04qmmjx98","country_code":"DE","type":"education","lineage":["https://openalex.org/I170658231"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Michael Philippi","raw_affiliation_strings":["Biophysics Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biophysics Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University","institution_ids":["https://openalex.org/I170658231"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043230326","display_name":"Lorenzo D. Botto","orcid":"https://orcid.org/0000-0002-5322-7116","observed_orcids":["https://orcid.org/0000-0002-5322-7116"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lorenzo D Botto","raw_affiliation_strings":["Division of Medical Genetics, Department of Pediatrics, University of Utah"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Pediatrics, University of Utah","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005714956","display_name":"Paulien A. Terhal","orcid":"https://orcid.org/0000-0002-4417-4307","observed_orcids":["https://orcid.org/0000-0002-4417-4307"]},"institutions":[{"id":"https://openalex.org/I3018483916","display_name":"University Medical Center Utrecht","ror":"https://ror.org/0575yy874","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I3018483916"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Paulien A Terhal","raw_affiliation_strings":["Department of Genetics, University Medical Center Utrecht"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, University Medical Center Utrecht","institution_ids":["https://openalex.org/I3018483916"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064764888","display_name":"Outi M\u00e4kitie","orcid":"https://orcid.org/0000-0002-4547-001X","observed_orcids":["https://orcid.org/0000-0002-4547-001X"]},"institutions":[{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I2800394112","display_name":"Helsinki University Hospital","ror":"https://ror.org/02e8hzf44","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I2800394112","https://openalex.org/I4210166427"]},{"id":"https://openalex.org/I4210090554","display_name":"Helsinki Children's Hospital","ror":"https://ror.org/00dqfzf20","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I2800394112","https://openalex.org/I4210090554","https://openalex.org/I4210166427"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Outi M\u00e4kitie","raw_affiliation_strings":["Children\u2019s Hospital, University of Helsinki and Helsinki University Hospital"],"raw_orcid":"https://orcid.org/0000-0002-4547-001X","affiliations":[{"raw_affiliation_string":"Children\u2019s Hospital, University of Helsinki and Helsinki University Hospital","institution_ids":["https://openalex.org/I133731052","https://openalex.org/I2800394112","https://openalex.org/I4210090554"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090005733","display_name":"Jacob Piehler","orcid":"https://orcid.org/0000-0002-2143-2270","observed_orcids":["https://orcid.org/0000-0002-2143-2270"]},"institutions":[{"id":"https://openalex.org/I170658231","display_name":"Osnabr\u00fcck University","ror":"https://ror.org/04qmmjx98","country_code":"DE","type":"education","lineage":["https://openalex.org/I170658231"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Jacob Piehler","raw_affiliation_strings":["Biophysics Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University"],"raw_orcid":"https://orcid.org/0000-0002-2143-2270","affiliations":[{"raw_affiliation_string":"Biophysics Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University","institution_ids":["https://openalex.org/I170658231"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083656103","display_name":"Yeongho Kim","orcid":"https://orcid.org/0000-0002-1477-925X","observed_orcids":["https://orcid.org/0000-0002-1477-925X"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yeongho Kim","raw_affiliation_strings":["Department of Cell Biology, Yale School of Medicine"],"raw_orcid":"https://orcid.org/0000-0002-1477-925X","affiliations":[{"raw_affiliation_string":"Department of Cell Biology, Yale School of Medicine","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013755274","display_name":"Christopher G. Burd","orcid":"https://orcid.org/0000-0003-1831-8706","observed_orcids":["https://orcid.org/0000-0003-1831-8706"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Christopher G Burd","raw_affiliation_strings":["Department of Cell Biology, Yale School of Medicine"],"raw_orcid":"https://orcid.org/0000-0003-1831-8706","affiliations":[{"raw_affiliation_string":"Department of Cell Biology, Yale School of Medicine","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086625921","display_name":"Andrey S. Klymchenko","orcid":"https://orcid.org/0000-0002-2423-830X","observed_orcids":["https://orcid.org/0000-0002-2423-830X"]},"institutions":[{"id":"https://openalex.org/I4405257448","display_name":"Laboratoire de bioimagerie et pathologies","ror":"https://ror.org/059g0vd42","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I4405257448","https://openalex.org/I68947357"]},{"id":"https://openalex.org/I68947357","display_name":"Universit\u00e9 de Strasbourg","ror":"https://ror.org/00pg6eq24","country_code":"FR","type":"education","lineage":["https://openalex.org/I68947357"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Andrey S Klymchenko","raw_affiliation_strings":["Laboratoire de Bioimagerie et Pathologies, Universit\u00e9 de Strasbourg"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Bioimagerie et Pathologies, Universit\u00e9 de Strasbourg","institution_ids":["https://openalex.org/I4405257448","https://openalex.org/I68947357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080450087","display_name":"Kenji Maeda","orcid":"https://orcid.org/0000-0002-9080-5691","observed_orcids":["https://orcid.org/0000-0002-9080-5691"]},"institutions":[{"id":"https://openalex.org/I4210148920","display_name":"Danish Cancer Society","ror":"https://ror.org/03ytt7k16","country_code":"DK","type":"nonprofit","lineage":["https://openalex.org/I4210148920"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Kenji Maeda","raw_affiliation_strings":["Cell Death and Metabolism Group, Center for Autophagy, Recycling and Disease, Danish Cancer Society Research Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cell Death and Metabolism Group, Center for Autophagy, Recycling and Disease, Danish Cancer Society Research Center","institution_ids":["https://openalex.org/I4210148920"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5004434143","display_name":"Joost C. M. Holthuis","orcid":"https://orcid.org/0000-0001-8912-1586","observed_orcids":["https://orcid.org/0000-0001-8912-1586"]},"institutions":[{"id":"https://openalex.org/I170658231","display_name":"Osnabr\u00fcck University","ror":"https://ror.org/04qmmjx98","country_code":"DE","type":"education","lineage":["https://openalex.org/I170658231"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Joost CM Holthuis","raw_affiliation_strings":["Molecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University"],"raw_orcid":"https://orcid.org/0000-0001-8912-1586","affiliations":[{"raw_affiliation_string":"Molecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabr\u00fcck University","institution_ids":["https://openalex.org/I170658231"]}]}],"institutions":[],"countries_distinct_count":6,"institutions_distinct_count":10,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3000,"currency":"USD","value_usd":2500},"apc_paid":{"value":3000,"currency":"USD","value_usd":2500},"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11308","display_name":"Sphingolipid Metabolism and Signaling","score":0.9429000020027161,"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/T11308","display_name":"Sphingolipid Metabolism and Signaling","score":0.9429000020027161,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.038600001484155655,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T11844","display_name":"Lipid metabolism and biosynthesis","score":0.010900000110268593,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.9269999861717224},{"id":"https://openalex.org/keywords/sphingolipid-biosynthesis","display_name":"sphingolipid biosynthesis","score":0.9779999852180481},{"id":"https://openalex.org/keywords/secretory-pathway","display_name":"secretory pathway","score":0.9940000176429749},{"id":"https://openalex.org/keywords/membrane-properties","display_name":"membrane properties","score":0.8849999904632568},{"id":"https://openalex.org/keywords/lipid-distribution","display_name":"lipid distribution","score":0.40400001406669617}],"concepts":[{"id":"https://openalex.org/C61322309","wikidata":"https://www.wikidata.org/wiki/Q423143","display_name":"Sphingomyelin","level":3,"score":0.7505463361740112},{"id":"https://openalex.org/C112243037","wikidata":"https://www.wikidata.org/wiki/Q22327117","display_name":"ATP synthase","level":3,"score":0.501349687576294},{"id":"https://openalex.org/C180899940","wikidata":"https://www.wikidata.org/wiki/Q117982","display_name":"Lipid signaling","level":3,"score":0.4554266035556793},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.431172251701355},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.3546534776687622},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3429967164993286},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2932929992675781},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1775984764099121},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.14497461915016174},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.07502356171607971}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.7554/elife.79278.sa2","doi":"https://doi.org/10.7554/elife.79278.sa2","is_oa":true,"landing_page_url":"https://doi.org/10.7554/elife.79278.sa2","pdf_url":null,"source":{"id":"https://openalex.org/S1336409049","display_name":"eLife","issn_l":"2050-084X","issn":["2050-084X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311710","host_organization_name":"eLife Sciences Publications Ltd","host_organization_lineage":["https://openalex.org/P4310311710"],"host_organization_lineage_names":["eLife Sciences Publications Ltd"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"peer-review"}],"best_oa_location":{"id":"doi:10.7554/elife.79278.sa2","doi":"https://doi.org/10.7554/elife.79278.sa2","is_oa":true,"landing_page_url":"https://doi.org/10.7554/elife.79278.sa2","pdf_url":null,"source":{"id":"https://openalex.org/S1336409049","display_name":"eLife","issn_l":"2050-084X","issn":["2050-084X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311710","host_organization_name":"eLife Sciences Publications Ltd","host_organization_lineage":["https://openalex.org/P4310311710"],"host_organization_lineage_names":["eLife Sciences Publications Ltd"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"peer-review"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8371999859809875}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W6967056824","https://openalex.org/W4295757764","https://openalex.org/W2032803603","https://openalex.org/W2738561192","https://openalex.org/W2066336750","https://openalex.org/W2060396649","https://openalex.org/W2069921134","https://openalex.org/W2305917148","https://openalex.org/W4414484771","https://openalex.org/W7097708527"],"abstract_inverted_index":{"Article":[0,22],"Figures":[1],"and":[2,11,23,73,86,130,146,156,202,252,313,324,333,353,392,409,413,427,442,445,453,537,570,592,655,659,690,714,776,798,824,836,844,862,871,903,910,919,929,936,945,956,973,1023,1040,1070,1089,1153,1173,1186,1194,1199,1219,1243,1259,1283,1365,1382,1406,1485,1500,1518,1562,1677,1726,1740,1769,1777,1799,1807,1840,1898,1917,1932,1958,1969,2037,2045,2077,2116,2137,2171,2203,2239,2247,2256,2272,2344,2373,2438,2489,2514,2580,2597,2603,2665,2678,2690,2709,2749,2768,2819,2913,2926,2938,2957,2994,3020,3037,3069,3092,3149,3230,3281,3291,3316,3383,3407,3439,3444,3516,3525,3561,3597,3716,3737,3740,3819,3883,3917,3995,4081,4181,4188,4212,4235,4265],"data":[3,1304,1925,2200,2215,2218,2283,2292,2388,2396,2420,2800,2816,2831,2834,3008,3073,3089,3104,3107,3131,3260,3323,3400,3500,3605,3633,3710,3793,3805],"Abstract":[4,27],"Editor's":[5,188],"evaluation":[6,189],"Introduction":[7,303],"Results":[8,1336],"Discussion":[9],"Materials":[10],"methods":[12],"Appendix":[13,1522,1609,1927,2285,2289,2390,2393],"1":[14,796,1658,2034,2201,2817,3090],"Data":[15,2189,3033],"availability":[16],"References":[17],"Decision":[18,295],"letter":[19,296],"Author":[20],"response":[21,1294],"author":[24],"information":[25],"Metrics":[26],"Sphingomyelin":[28,190],"is":[29,194,578,612,631,693,791,968,1046,1122,1251,1342,1393,1620,1696,1736,2161,2178,3188,3211,3217,3224,3484,3651],"a":[30,51,61,114,132,214,224,255,710,758,897,987,1031,1057,1126,1134,1245,1371,1387,1548,1639,1691,1843,1939,2097,2258,2267,2315,2471,2515,2547,3197,3247,3384,3459,3510,3517,3532,3547,3586,3622,3665,3687,3733,3920,3944,4082,4125,4306],"dominant":[31,991],"sphingolipid":[32],"in":[33,38,44,64,79,127,143,151,159,198,217,221,243,248,259,275,292,387,404,562,567,580,603,628,663,757,789,833,839,859,906,917,971,977,1027,1116,1156,1224,1240,1256,1273,1285,1320,1340,1374,1403,1429,1449,1464,1505,1508,1532,1553,1590,1604,1618,1686,1715,1738,1824,1846,1980,1999,2028,2065,2091,2123,2131,2149,2153,2261,2317,2414,2431,2460,2619,2672,2755,2760,2771,2794,2842,2920,3000,3005,3023,3040,3065,3115,3126,3177,3227,3232,3274,3376,3387,3421,3504,3513,3520,3537,3551,3580,3589,3625,3642,3743,3761,3823,3840,3858,3901,3910,3959,3975,4014,4045,4061,4105,4136,4167,4204,4223,4227,4274,4325],"mammalian":[34,931],"cells.":[35,293,1226,1335,3470,3745,3860,4169],"Its":[36,866],"production":[37,1140,1821,1996,2428,2457,3648,3974],"the":[39,45,55,97,110,128,160,170,199,203,209,218,236,244,249,260,263,270,316,374,378,384,397,405,458,501,511,563,568,581,584,590,598,604,613,624,629,737,753,781,810,813,834,860,864,911,914,950,978,983,1028,1049,1066,1076,1149,1157,1179,1189,1214,1241,1274,1300,1312,1321,1329,1360,1375,1399,1430,1467,1471,1482,1506,1516,1529,1555,1558,1571,1585,1605,1615,1644,1648,1705,1710,1731,1825,1847,1861,1868,1954,2000,2029,2112,2147,2208,2220,2251,2308,2327,2354,2415,2432,2461,2465,2476,2484,2502,2509,2540,2581,2587,2620,2628,2669,2726,2795,2824,2836,2860,2876,2917,2974,3066,3097,3109,3144,3167,3183,3194,3209,3215,3228,3233,3238,3288,3298,3311,3339,3342,3351,3377,3388,3422,3425,3433,3437,3466,3473,3521,3529,3538,3581,3593,3611,3670,3679,3696,3727,3764,3768,3797,3812,3816,3824,3828,3841,3867,3870,3875,3927,3951,3962,3976,3983,4017,4030,4056,4062,4072,4089,4106,4118,4130,4144,4260,4269,4275],"trans-Golgi":[40,569,585,658,861,3229],"traps":[41],"cholesterol":[42,152,618,626,646,1257,3560,3715],"synthesized":[43,579,2179,2413],"ER":[46,111,117,129,502,564,591,1102,1242,1275,1301,1347,1376,1421,1536,1606,1625,1635,1667,1826,2437,2462,2488,2596,2629,2670,2680,2710,2750,2772,3041,3133,3154,3178,3210,3216,3241,3263,3312,3423,3438,3452,3467,3474,3557,3798,3928,3952,3977,4073,4090,4131],"to":[47,96,108,113,175,254,268,288,341,401,479,510,515,523,597,650,731,761,821,1030,1056,1065,1125,1129,1141,1161,1177,1295,1315,1510,1515,1580,1584,1654,1947,2040,2105,2164,2341,2353,2365,2469,2572,2667,2683,2915,2931,3200,3219,3392,3463,3546,3654,3669,3763,3999,4124],"promote":[48],"formation":[49,763,3969],"of":[50,172,211,228,241,262,272,307,315,377,462,543,576,583,617,623,657,672,685,699,717,729,740,752,764,774,812,891,949,986,1010,1104,1136,1181,1197,1216,1238,1299,1333,1344,1355,1370,1386,1398,1419,1470,1539,1566,1575,1622,1630,1647,1673,1690,1704,1709,1730,1822,1829,1849,1863,1871,1903,1967,1997,2033,2127,2141,2194,2207,2219,2223,2233,2245,2304,2322,2369,2429,2436,2458,2467,2487,2508,2542,2594,2627,2704,2725,2734,2744,2765,2786,2823,2835,2839,2859,2862,2875,2952,2973,2982,2989,3017,3057,3096,3108,3112,3140,3143,3166,3173,3268,3297,3310,3338,3357,3363,3370,3436,3465,3489,3492,3523,3531,3542,3559,3573,3577,3595,3649,3700,3714,3735,3757,3779,3800,3827,3850,3864,3879,3989,4032,4064,4071,4103,4114,4122,4129,4147,4162,4262,4271,4291,4310],"sphingomyelin/sterol":[52],"gradient":[53,59,258,2474,3814],"along":[54,2475,3815],"secretory":[56,161,264,406,463,552,689,1144,1158,1201,1322,2477,3817,3868,4264],"pathway.":[57,162,265,2478],"This":[58,231,767,1112,1250,1612,1962,2311,2527,3502],"marks":[60],"fundamental":[62],"transition":[63,398],"physical":[65],"membrane":[66,205,325,369,432,504,545,572,673,755,769,1154,1260,1401,1564,1712,4074,4137],"properties":[67,370,1155],"that":[68,83,92,165,180,207,235,371,395,434,475,507,547,966,1063,1114,1229,1266,1306,1324,1413,1614,1721,1835,1964,2146,2243,2400,2422,2454,2497,3202,3270,3302,3372,3464,3483,3571,3647,3807,3832,3923,3948,3967,3982,4068,4096,4111,4134,4289],"help":[69],"specify":[70],"organelle":[71,342],"identify":[72],"function.":[74],"We":[75,163,963,1227,1263,1411,1525,2447],"previously":[76,964],"identified":[77,974,2736,2984,3494],"mutations":[78,238,976,1866],"sphingomyelin":[80,126,135,139,212,538],"synthase":[81,191,795,2184,2349,3536],"SMS2":[82,93,123,167,222,242,856,894,920,967,1107,1120,1183,1233,1268,1308,1341,1361,1407,1447,1472,1533,1576,1619,1663,1723,1817,1837,1910,1992,2248,2323,2403,2424,2445,2452,2500,2637,2653,2689,2778,2868,2885,2901,2937,3030,3174,3333,3417,3448,3457,3663,3809,3836,4248],"cause":[84,239,985,1270,1368,1842,3820],"osteoporosis":[85,995,1015],"skeletal":[87,1021],"dysplasia.":[88],"Here,":[89],"we":[90,1167,1206,1444,1546,1873,2482,3430,3569,3843,4287],"show":[91,1228,2783,3054,3722],"variants":[94,124,168,1094,1121,1184,1234,1269,1309,1363,1473,1589,1818,1838,1993,2404,2425,2446,2453,3418,3810,3837,4249],"linked":[95],"most":[98,1077,1351],"severe":[99,1032,1078,1352],"bone":[100,185,229,972,1018,1330],"phenotypes":[101,915,1079],"retain":[102],"full":[103],"enzymatic":[104],"activity":[105,944,1332],"but":[106,565,1059,1132,1742,1971,3137,3306,3940],"fail":[107],"leave":[109],"owing":[112],"defective":[115,3900],"autonomous":[116,1346,1624,1666],"export":[118,1103,1348,1422,1537,1626,1636,1668],"signal.":[119,1627,1669],"Cells":[120,2088,2612,3414,4220],"harboring":[121],"pathogenic":[122,166,1119,1182,1232,1267,1307,1865,2299,2335,2402,2423,2444,2451,2503,2614,2636,2867,2884,3159,3352,3416,3808,3835],"accumulate":[125,1235,2617,3419,3838,4100],"display":[131,1244],"disrupted":[133,256,1246],"transbilayer":[134,1192,1247,4251,4308],"asymmetry.":[136,1249],"These":[137,420],"aberrant":[138],"distributions":[140,179,1319],"also":[141,281,778,1264,3544,3620],"occur":[142],"patient-derived":[144,1175,1830],"fibroblasts":[145,1176,1831],"are":[147,181,365,383,422,540,548,560,923,1080,1357,1384,1684,1728,2190,2730,2801,2978,3009,3048,3074,3271,3373],"accompanied":[148,1252,2313,3508],"by":[149,347,367,467,483,589,594,633,669,704,733,747,793,1100,1253,1476,1637,1698,1779,1809,1914,1960,2079,2118,2135,2182,2314,2530,2601,2719,2810,2967,3083,3509,3585,3782,4214,4238,4296,4304,4313],"imbalances":[150,1255],"organization,":[153],"glycerophospholipid":[154,1276],"profiles,":[155],"lipid":[157,178,216,273,290,309,348,389,460,512,519,1151,1190,1217,1261,1318,1949,2107,2125,2235,2485,2728,2840,2976,3113,3191,3434,3460,3825,4140],"order":[158],"postulate":[164],"undermine":[169,1311],"capacity":[171,1128,1314,1870],"osteogenic":[173,1334],"cells":[174,470,932,1230,1751,1784,1881,1904,1934,1982,2008,2050,2056,2128,2155,2241,2296,2358,2383,2442,2468,2496,2511,2543,2632,2645,2715,2753,2776,2844,2863,2880,2893,2963,2998,3028,3045,3117,3157,3181,3245,3330,3349,3446,3455,3477,3661,3674,3683,3702,3772,3833,3960,3992,4047,4097,4116,4174],"uphold":[176,1316],"nonrandom":[177,1317],"critical":[182,215,1327],"for":[183,431,695,1328,1907,1943,2025,2101,2173,2276,2350,2410,2624,2872,3193,3732,4011,4209,4232],"their":[184,485,517,744,1462,1892,1973,2019,3968],"forming":[186,1331],"activity.":[187],"2":[192,1986,2216,2832,3105],"(SMS2)":[193],"an":[195,651,682,696,749,934,1142,1279,1291,1345,1420,1623,1665,1699,2521,2698,2946,3846,4163,4256],"enzyme":[196,1062,1373,1893],"located":[197,1394],"Golgi":[200,1517],"apparatus":[201],"plasma":[204,571],"(PM)":[206],"mediates":[208],"synthesis":[210],"(SM),":[213],"PM.":[219,865,3120,3234],"Mutations":[220],"underlie":[223],"rare":[225,338,561],"genetic":[226,992],"disorder":[227,993],"formation.":[230],"useful":[232],"study":[233,280],"shows":[234],"disease":[237],"retention":[240,1369],"ER,":[245,1507,2510,3195,3582,3842],"producing":[246],"SM":[247,577,611,634,648,686,718,730,787,794,823,904,951,1098,1131,1139,1239,1248,1823,1852,1978,1998,2121,2224,2254,2271,2309,2328,2375,2430,2459,2618,3018,3035,3223,3420,3481,3487,3506,3535,3643,3655,3666,3690,3698,3736,3783,3813,3839,3856,3865,3902,3973,4104,4157,4165,4191,4196,4252,4254,4272,4284,4302,4311],"wrong":[250],"place":[251],"leading":[253],"SM/cholesterol":[257,2472],"membranes":[261,305,4031],"In":[266,1164,1489,2294,3169,3235,3471,3555,3677,3766,4027,4043,4086],"addition":[267,2303],"highlighting":[269],"roles":[271],"gradients":[274],"cellular":[276,645,1293,1313,2253,3636],"signaling":[277,443],"pathways,":[278],"this":[279,1147,1165,1204,1414,1442,3358,3801],"provides":[282],"cell":[283,1171,2553,2675,2706,2746,2923,2954,2991,3254,3394,3729,3751],"biologists":[284],"with":[285,311,996,1016,1035,1048,1082,1118,1213,1359,1456,1491,1570,1597,1753,1766,1774,1786,1796,1804,1832,1882,1905,1938,1953,2010,2058,2069,2074,2096,2111,2266,2298,2347,2406,2464,2520,2532,2546,2564,2575,2647,2658,2895,2906,3204,3237,3287,3405,3528,3785,3796,3874,3888,3926,3937,3950,4039,4050,4054,4088,4176,4268],"new":[286],"tools":[287],"examine":[289],"localization":[291],"https://doi.org/10.7554/eLife.79278.sa0":[294],"Reviews":[297],"on":[298,360,736,900,1188,1210,1867,2697,2945,3034,3610,3972,4077],"Sciety":[299],"eLife's":[300],"review":[301],"process":[302,759],"Eukaryotic":[304],"consist":[306],"complex":[308],"mixtures,":[310],"amounts":[312,948,1237,3337,4102],"ratios":[314],"individual":[317],"lipids":[318,339,478,546,3269,3371,3495,3564,3719],"showing":[319],"marked":[320,1271,1685,1697,1844,3548],"variations":[321],"between":[322,491,551,2166,2269],"organelles":[323,403,464,493,499,553,1212],"leaflets":[326],"(van":[327,554],"Meer":[328,555],"et":[329,417,449,495,529,533,556,608,636,640,678,720,724,784,828,849,853,875,879,883,887,960,1004,1109,1378,1437,1496,1855,3893,4006,4317],"al.,":[330,418,450,496,530,534,557,609,637,641,679,721,725,785,829,850,854,876,880,884,888,961,1005,1110,1379,1438,1497,1856,3894,4007,4318],"2008;":[331],"Harayama":[332],"Riezman,":[334],"2018).":[335,455,535],"Although":[336],"some":[337],"contribute":[340],"function":[343],"through":[344],"stereospecific":[345],"recognition":[346,358],"binding":[349,615],"proteins":[350,433,474],"(Di":[351],"Paolo":[352],"De":[354],"Camilli,":[355],"2006),":[356],"numerous":[357,4024],"processes":[359,437],"or":[361,525,706,893,908,1452,1458,1593,1599,1632,1643,1757,1761,1791,1891,2018,2031,2158,2301,2361,2380,2494,2501,2635,2643,2651,2654,2779,2790,2845,2866,2883,2891,2899,2902,3031,3061,3118,3449,4052,4186,4194,4293,4299],"within":[362],"organellar":[363,2692,2940],"bilayers":[364,692,4261],"determined":[366,1475,2718,2758,2966,3003,3432],"biophysical":[368],"result":[372],"from":[373,399,586,817,1013,2186,2237,2441,2492,2630,2712,2752,2774,2878,2960,2997,3026,3043,3156,3180,3243,3329,3347,3442,3453,3468,3475,3659,3672,3681,3748,3770],"collective":[375],"behavior":[376],"bulk":[379,544,575,1138,1820,1995,2427,2456,3563,3578,3718,4101,4270],"lipids.":[380,2737,2985],"Particularly":[381],"striking":[382],"lipid-induced":[385],"changes":[386,421,1272,3822],"bilayer-thickness,":[388],"packing":[390,653,1195,4141],"density":[391,654,1196],"surface":[393,739,2541],"charge":[394],"accompany":[396],"early":[400,1143,1198],"late":[402,688,1200,4263],"pathway":[407,771,1159,1323,3818],"(Bigay":[408,444],"Antonny,":[410,446],"2012;":[411,447],"Holthuis":[412],"Menon,":[414],"2014;":[415,638],"Sharpe":[416],"2010).":[419],"highly":[423,969],"conserved":[424,1388,1692,1737],"across":[425,687,1745,4259],"species":[426,2122,2841,3114,3600,3760,3784],"provide":[428,508],"specific":[429,477,3190],"cues":[430],"govern":[435],"vital":[436],"such":[438],"as":[439,803,982,2052,2064,2090,2130,2139,2671,2732,2754,2759,2919,2980,2999,3004,3050,3293,3583,3854,3906,4002,4222,4282],"protein":[440,667,938,1487,1679,3141,3308,3930],"secretion":[441,847],"Magdeleine":[448],"2016;":[451],"Zhou":[452],"Hancock,":[454],"To":[456,1440,1543,1858,2479,3830,3861,3980,4320],"defend":[457],"unique":[459],"mixtures":[461],"against":[465,1481,2523,2688,2936],"erosion":[466],"vesicular":[468,481,595],"transport,":[469],"exploit":[471],"cytosolic":[472,715,738,1573,1651,4283],"transfer":[473,811],"enable":[476,3862],"bypass":[480],"connections":[482],"mediating":[484],"monomeric":[486],"exchange":[487],"at":[488,780,863,3592,3885],"contact":[489],"sites":[490],"distinct":[492,3945],"(Wong":[494],"2019).":[497,642,1006,1111,1380,1857],"Moreover,":[498,681,2356,3262,3360,3635,4108],"like":[500],"harbor":[503],"property":[505],"sensors":[506],"feedback":[509],"metabolic":[513,526],"network":[514,4021],"preserve":[516],"characteristic":[518],"composition":[520,2486,2703,2743,2858,2951,2988,3435,3461],"when":[521],"exposed":[522],"stress":[524],"insults":[527],"(Levental":[528],"2020;":[531,722],"Radanovi\u0107":[532],"Sterols":[536,559],"(SM)":[539],"prime":[541],"examples":[542],"unevenly":[549],"distributed":[550],"2008).":[558],"abundant":[566],"(PM).":[573],"The":[574,1007,1043,1337,1350,1688,2568,2592,2781,3052,3451,3657,3746],"lumen":[582,4063],"ceramides":[587,732,2343,2351,3221],"supplied":[588],"delivered":[593,2352],"transport":[596],"PM,":[599],"where":[600],"it":[601],"accumulates":[602,3231],"exoplasmic":[605],"leaflet":[606],"(Hanada":[607],"2003).":[610],"preferred":[614],"partner":[616],"(Slotte,":[619],"2013).":[620,680],"About":[621],"one-third":[622],"total":[625,1948,2106,2124,2142,2234,2735,2784,2983,3055,3253,3393,3697],"pool":[627,2255,4166],"PM":[630,660,782,1519,2439,2490,2538,2598,2861,2877,2918,2928,2958,2995,3024,3145,3278,3299,3327,3345,3364,3378,3440,3658,3671,3680,3747,3769,4294],"sequestered":[632],"(Das":[635],"Endapally":[639],"Besides":[643,927],"influencing":[644],"homeostasis,":[647],"contributes":[649],"enhanced":[652,1280,3575],"thickening":[656],"bilayers.":[661],"This,":[662],"turn,":[664],"may":[665,777,1325,1416,4142],"modulate":[666],"sorting":[668,1541],"hydrophobic":[670],"mismatching":[671],"spans":[674],"(Munro,":[675],"1995;":[676],"Quiroga":[677],"asymmetric":[683,4257],"distribution":[684,1469,3922,3947,4121,4258],"endolysosomal":[691,4266],"relevant":[694],"optimal":[697],"repair":[698],"damaged":[700,754],"organelles.":[701,1202],"Lysosome":[702],"wounding":[703],"chemicals":[705,4298],"bacterial":[707],"toxins":[708,4300],"triggers":[709],"rapid":[711,4307],"Ca2+-activated":[712,4314],"scrambling":[713],"exposure":[716],"(Ellison":[719],"Niekamp":[723],"2022).":[726,786,4319],"Subsequent":[727],"conversion":[728],"neutral":[734],"SMases":[735],"injured":[741],"lysosomes":[742,3147,3282,3314,3406],"promotes":[743],"repair,":[745],"presumably":[746,2330],"driving":[748],"inverse":[750],"budding":[751],"area":[756],"akin":[760],"ESCRT-mediated":[762],"intraluminal":[765],"vesicles.":[766,4026],"SM-based":[768],"restoration":[770],"functions":[772],"independently":[773,1538],"ESCRT":[775],"operate":[779],"(Niekamp":[783,4316],"biosynthesis":[788,1099,1853,1979],"mammals":[790],"mediated":[792],"(SMS1)":[797],"SMS2.":[799],"Both":[800],"enzymes":[801],"act":[802],"phosphatidylcholine":[804],"(PC):ceramide":[805],"phosphocholine":[806],"transferases,":[807],"which":[808,940,1053,1367,1392,1424,1450,1513,1554,1591,1735,2177,2398],"catalyze":[809],"phosphorylcholine":[814],"head":[815],"group":[816],"PC":[818,2766,3524,3591,3599,3607,3739,3759],"onto":[819],"ceramide":[820,953,2168,2183,2277,2407],"generate":[822,2470],"diacylglycerol":[825],"(DAG)":[826],"(Huitema":[827],"2004).":[830],"SMS1":[831,892,918,928,1405,1739,2246],"resides":[832,857],"trans-Golgi,":[835],"its":[837,1427,2334,3886,4195,4322],"deficiency":[838,867],"mice":[840,922],"causes":[841],"mitochondrial":[842],"dysfunction":[843],"disrupts":[845,1634,4301],"insulin":[846,872],"(Yano":[848],"2013;":[851],"Yano":[852],"2011).":[855],"both":[858,1404,3915],"ameliorates":[868],"diet-induced":[869],"obesity":[870],"resistance":[873],"(Kim":[874],"2018;":[877],"Li":[878],"2011;":[881,885],"Mitsutake":[882],"Sugimoto":[886],"2016).":[889,3895],"Removal":[890],"has":[895,2337],"only":[896,2324],"minor":[898],"impact":[899,1180,1862],"ceramide,":[901,3526],"DAG":[902,3514],"pools":[905,3988],"tissues":[907],"cells,":[909,1466,3645,3914,4029],"mechanisms":[912],"underlying":[913,984],"observed":[916,3958],"knockout":[921,1878],"not":[924,1123,1743,1972,3212,3721,3941,3957],"well":[925],"understood.":[926],"SMS2,":[930,1512,1741,1759,1872,1888,2015,2332],"contain":[933,3304],"ER-resident":[935,1431,1486,2167,2401,3987,4164],"SMS-related":[937],"(SMSr),":[939],"displays":[941],"phospholipase":[942],"C":[943],"synthesizes":[946],"trace":[947],"analog":[952],"phosphoethanolamine":[954],"(Murakami":[955],"Sakane,":[957],"2021;":[958],"Vacaru":[959],"2009).":[962,1439],"reported":[965,3292],"expressed":[970,2138,2731,2979,3909],"heterozygous":[975],"SMS2-encoding":[979],"gene":[980],"(SGMS2)":[981],"clinically":[988],"described":[989,3428,4003],"autosomal":[990],"\u2013":[994],"calvarial":[997],"doughnut":[998],"lesions":[999,1026],"(OP-CDL:":[1000],"OMIM":[1001],"#126550)":[1002],"(Pekkinen":[1003,1108,1377,1495,1854],"clinical":[1008,1353],"presentations":[1009,1354],"OP-CDL":[1011,1115,1174,1356],"range":[1012],"childhood-onset":[1014],"low":[1017],"mineral":[1019],"density,":[1020],"fragility":[1022],"sclerotic":[1024],"doughnut-shaped":[1025],"skull":[1029],"spondylometaphyseal":[1033],"dysplasia":[1034],"neonatal":[1036],"fractures,":[1037],"long-bone":[1038],"deformities,":[1039],"short":[1041],"stature.":[1042],"milder":[1044],"phenotype":[1045],"associated":[1047,1081,1358,3404],"nonsense":[1050],"variant":[1051,2504,2615,3160,3353,3964],"p.Arg50*,":[1052],"gives":[1054],"rise":[1055,1284,2148,3512,3588],"truncated":[1058],"catalytically":[1060,3533,4078],"active":[1061,1106,3534,4079],"mislocalizes":[1064],"cis/medial-Golgi":[1067],"(T.":[1068],"Sokoya":[1069],"J.":[1071],"Holthuis,":[1072],"unpublished":[1073],"data).":[1074],"However,":[1075,1587,3214,3568,3934,4278],"two":[1083,2796],"closely":[1084],"localized":[1085,1514,1583],"missense":[1086,1093,1362,1836],"variants,":[1087],"p.Ile62Ser":[1088,1185],"p.Met64Arg.":[1090],"Interestingly,":[1091,3540],"these":[1092,1864,2419,3701,3804,4033,4093],"enhance":[1095],"de":[1096,1850,2180],"novo":[1097,1851,2181],"blocking":[1101],"enzymatically":[1105],"suggests":[1113,2399,4133],"patients":[1117],"due":[1124,2163],"reduced":[1127,3689],"synthesize":[1130,3220],"rather":[1133],"consequence":[1135],"mistargeting":[1137],"organelle.":[1145],"How":[1146],"affects":[1148],"contrasting":[1150],"landscapes":[1152],"remains":[1160,1653],"be":[1162,1326,1417,1655],"established.":[1163,1656],"work,":[1166],"used":[1168,2666,2914,3845],"genetically":[1169],"engineered":[1170,3847],"lines":[1172,3752],"address":[1178,1544,2480],"p.Met64Arg":[1187],"composition,":[1191],"arrangement,":[1193],"Toward":[1203],"end,":[1205],"combined":[1207],"shotgun":[1208,2722,2970],"lipidomics":[1209,3198],"purified":[1211,2491,2679,2711,2751,2773,2927,2959,2996,3025,3042],"application":[1215],"biosensors":[1218],"targeted":[1220],"solvatochromic":[1221],"fluorescent":[1222],"probes":[1223],"live":[1225,3859],"harbouring":[1231],"PM-like":[1236],"significant":[1254,3518,3587],"organization":[1258,4146],"order.":[1262],"find":[1265],"profile,":[1277],"including":[1278],"phospholipid":[1281,2143,3579],"desaturation":[1282],"cone-shaped":[1286],"ethanolamine-containing":[1287],"phospholipids,":[1288],"potentially":[1289],"reflecting":[1290],"adaptive":[1292],"counteract":[1296],"SM-mediated":[1297],"rigidification":[1298],"bilayer.":[1302],"Our":[1303],"indicate":[1305,2421,3806],"profoundly":[1310],"IXMP":[1338,1530,1616,1693,1732],"motif":[1339,1415,1531,1617,1642,1695],"part":[1343,1385,1418,1621,1729],"signal":[1349,3877],"p.I62S":[1364,1839],"p.M64R,":[1366],"functional":[1372],"Ile62":[1381,1451,1592,1631,1725],"Met64":[1383,1453,1594,1633,1727],"sequence":[1389,1641,1694,1733,3878],"motif,":[1390,1734],"IXMP,":[1391],"13\u201314":[1395],"residues":[1396,1683,1724],"upstream":[1397,1708],"first":[1400,1563,1711],"span":[1402,1565,1713],"(Figure":[1408,1520,1577,1607,1920,1983,2279,2384,2525,2555,3256,3396,3496,3601,3706,3932,3978,4041],"1A,":[1409],"B).":[1410],"reasoned":[1412],"signal,":[1423],"could":[1425],"explain":[1426],"absence":[1428,2030],"SMS":[1432,1674,1717],"family":[1433,1675,1718],"member":[1434],"SMSr":[1435,1567],"(Vacaru":[1436],"test":[1441,1860],"idea,":[1443],"generated":[1445],"FLAG-tagged":[1446,1549,1758,1787,1887,2014,2060],"constructs":[1448,1885,2012],"was":[1454,1474,1568,1595,1912,2312,2518,2528,2544,2560,2584,2599,2717,2757,2965,3002,3507,3614,3703,3872,4058],"replaced":[1455,1569,1596],"Ser":[1457,1598],"Arg,":[1459,1600],"respectively.":[1460,1900],"Upon":[1461],"transfection":[1463],"HeLa":[1465,1750,1783,1880,2003,2049,2631,2640,2713,2879,2888,2961],"subcellular":[1468],"fluorescence":[1477,1918,2081],"microscopy":[1478,1919],"using":[1479,2043,2686,2934,3196,4279],"antibodies":[1480,2687,2935],"FLAG":[1483],"tag":[1484],"calnexin.":[1488],"agreement":[1490,4087],"our":[1492,4109],"previous":[1493],"findings":[1494],"2019),":[1498],"SMS2I62S":[1499,1968,2157,2300,2360],"SMS2M64R":[1501,1762,1890,2017,2061,2159,2362,2616,2655,2903,3047,3161,3354,3543,3574,3618,3685,3774,3996,4080,4099,4185],"were":[1502,1602,1763,1793,1935,2023,2062,2093,2133,2512,2570,2589,2656,2681,2695,2904,2929,2943,3138,3175,3265,3355,3411,3565,3639,3956,3997,4036,4202,4225],"each":[1503],"retained":[1504,1603],"contrast":[1509],"wildtype":[1511,2238,2379,2493,2634,2641,2714,2865,2882,2889,2962,3184,3244,3332,3443,3469,3673],"1C;":[1521],"1\u2014figure":[1523,1610,1928,2286,2290,2391,2394],"1).":[1524,1611,2293,3324],"then":[1526,2038,2561,4236],"asked":[1527,2449],"whether":[1528,2450],"can":[1534],"mediate":[1535,1819,2455],"other":[1540,3343,3562,3612,3717],"information.":[1542],"this,":[1545,2481],"created":[1547],"chimera":[1550],"protein,":[1551],"SMSr-SMS211-77,":[1552],"region":[1556,1706],"linking":[1557],"N-terminal":[1559,1650,3876],"SAM":[1560],"domain":[1561],"IXMP-containing":[1572],"tail":[1574,1652],"1A).":[1578],"Contrary":[1579],"SMSr,":[1581,1744,1788],"SMSr-SMS211-77":[1582,1588],"Golgi.":[1586,2355],"respectively,":[1601],"1D;":[1608],"indicates":[1613],"Whether":[1628],"mutation":[1629],"perturbing":[1638],"linear":[1640],"overall":[1645],"fold":[1646],"enzyme\u2019s":[1649],"Figure":[1657,1923,1985,2198,2213,2281,2386,2606,2814,2829,2851,3087,3102,3127,3129,3258,3319,3321,3398,3498,3603,3629,3631,3708,3789,3791,4150],"Download":[1659,1987,2211,2227,2608,2827,2849,2853,3100,3122,4152],"asset":[1660,1662,1988,1990,2609,2611,2854,2856,4153,4155],"Open":[1661,1989,2610,2855,4154],"contains":[1664],"(A)":[1670,2002,2092,2132,2622,2870,4170,4224],"Membrane":[1671],"topology":[1672],"members":[1676],"chimeric":[1678],"SMSr/211-77.":[1680],"Active":[1681],"site":[1682],"red.":[1687],"position":[1689],"arrow.":[1700],"(B)":[1701,2054,2639,2756,2887,3001,4219],"Sequence":[1702],"alignment":[1703],"immediately":[1707],"(TM1)":[1714],"vertebrate":[1716,1747],"members.":[1719],"Note":[1720,2145],"human":[1722,3880,3911],"different":[1746,2727,2975],"species.":[1748,2225],"(C)":[1749,2087,2701,2949],"transfected":[1752,1785],"empty":[1754,2648,2896,4182],"vector":[1755,2649,2897,4183],"(EV)":[1756,2650,2898],"SMS2I62S,":[1760,1889,2016],"fixed,":[1764,1794,2067],"immunostained":[1765,1795,2068],"\u03b1-FLAG":[1767,1797,2070],"(green)":[1768,1798],"\u03b1-calnexin":[1770,1800],"(magenta)":[1771,1801],"antibodies,":[1772,1802],"counterstained":[1773,1803,2073],"DAPI":[1775,1805,2075],"(blue)":[1776,1806,2076],"imaged":[1778,1808,2078,4213,4237],"DeltaVision":[1780,1810],"microscopy.":[1781,1811,2082,4218,4242],"(D)":[1782,2120,2741,2986],"SMSr/211-77,":[1789],"SMSr/211-77I62S":[1790],"SMSr/211-77M64R":[1792],"Scale":[1812,2083,4243],"bar,":[1813,2084,4244],"10":[1814,2085,4245],"\u03bcm.":[1815,2086,4246],"Pathogenic":[1816,1991,4247],"Metabolic":[1827],"labeling":[1828,4128],"14C-choline":[1833],"showed":[1834,3919],"p.M64R":[1841],"increase":[1845,2260,3503,3550,3624],"rate":[1848],"directly":[1859,2562],"biosynthetic":[1869],"stably":[1874],"transduced":[1875,2009,2057,2297,2646,2894],"SMS1/2":[1876,2004],"double":[1877,2005,2787,3058,3787],"(\u0394SMS1/2)":[1879,2007],"doxycycline-inducible":[1883,2011,2059,2652,2900],"expression":[1884,1911,1966,2321,3541,3572,3619],"encoding":[1886,2013],"dead":[1894],"isoforms":[1895,2021],"SMS2D276A,":[1896],"SMS2I62S/D276A,":[1897],"SMS2M64R/D276A,":[1899,3965],"After":[1901,4009],"treatment":[1902],"doxycycline":[1906,2036,2305,2659,2907],"16":[1908,1944,2026,2102,2662,2910],"hr,":[1909,1945],"verified":[1913],"immunoblot":[1915,2041,2602,2684,2932,3239],"analysis":[1916,2042,2222,2232,2435,2685,2764,2838,2933,3016,3111,3296,3362],"2A,":[1921],"B;":[1922,2288],"2\u2014source":[1924,2199,2214,2282,2387],"1;":[1926],"2).":[1929,3261,3401,3501,3606,3634,3711],"Next,":[1930],"control":[1931],"doxycycline-treated":[1933],"metabolically":[1936,2094],"labeled":[1937,2095],"clickable":[1940,2098],"sphingosine":[1941,2099],"analogue":[1942,2100],"subjected":[1946,2039,2104,2682,2930,3998],"extraction,":[1950,2108],"click":[1951,2109],"reacted":[1952,2110],"fluorogenic":[1955,2113],"dye":[1956,2114],"3-azido-7-hydroxycoumarin,":[1957],"analyzed":[1959,2117,2483],"TLC.":[1961,2119],"revealed":[1963,2242,3301,3366],"doxycycline-induced":[1965],"SMS2M64R,":[1970,2302,3938,4055],"enzyme-dead":[1974,2020,3963],"isoforms,":[1975,2336],"fully":[1976,2306],"restored":[1977,2307,2326],"\u0394SMS1/2":[1981,2055,2154,2240,2295,2357,2382,2495,2644,2775,2892,3027,3044,3348,3445,3454,3660,3682,3771],"2C).":[1984],"support":[1994,2426],"ER.":[2001,2416,2433,2621,2847,3539,3765,3829,4107],"KO":[2006],"(D276A)":[2022],"grown":[2024],"hr":[2027],"presence":[2032,3530],"\u03bcg/ml":[2035],"\u03b1-SMS2":[2044],"\u03b1-Na/K-ATPase":[2046],"antibodies.":[2047],"Wildtype":[2048],"served":[2051,3905],"control.":[2053,3907],"treated":[2063,2089,2129,2545,2657,2905,4221],"(A),":[2066],"antibody":[2071,2522,3206],"(green),":[2072],"conventional":[2080],"h,":[2103],"3-azido-7-hydroxycoumarin":[2115],"extracts":[2126,2236],"quantified":[2134,3285],"LC-MS/MS":[2136],"mol%":[2140,2733,2981,3486,3491],"analyzed.":[2144],"dihydroSM":[2150,3780],"(dhSM,":[2151],"d18:0/16:0)":[2152,2372,2377],"expressing":[2156,2359,2443,2613,2633,2777,2864,2881,3029,3046,3158,3182,3331,3350,3415,3447,3456,3662,3684,3773,3834,3961,4098],"(SMS2*)":[2160],"likely":[2162],"competition":[2165,2268],"desaturase":[2169,2408],"(DES1)":[2170],"SMS2*":[2172],"dihydroceramide":[2174,2370,2411],"(dhCer,":[2175],"d18:0/16:0),":[2176],"(CerS)":[2185],"dihydrosphingosine":[2187],"(dhSph).":[2188],"average":[2191,2802,3010,3075],"\u00b1":[2192,2803,3011,3076],"SD":[2193],"three":[2195],"technical":[2196],"triplicates.":[2197],"Unprocessed":[2202,2818,3091],"uncropped":[2204,2820,3093],"image":[2205,2821,3094],"files":[2206,2822,3095],"immunoblots.":[2209,2825,3098],"https://cdn.elifesciences.org/articles/79278/elife-79278-fig2-data1-v2.pdf":[2210],"elife-79278-fig2-data1-v2.pdf":[2212],"Raw":[2217,2833,3106],"quantitative":[2221,2837,3110],"https://cdn.elifesciences.org/articles/79278/elife-79278-fig2-data2-v2.xlsx":[2226],"elife-79278-fig2-data2-v2.xlsx":[2228],"Quantitative":[2229],"mass":[2230,2720,2968],"spectrometric":[2231],"removal":[2244],"wiped":[2249],"out":[2250],"entire":[2252],"caused":[2257,3621],"fourfold":[2259,2366,3776],"glycosphingolipid":[2262],"(GSL)":[2263],"levels,":[2264,3482],"consistent":[2265,3527,3795],"Golgi-resident":[2270],"glucosylceramide":[2273],"(GlcCer)":[2274],"synthases":[2275],"substrate":[2278,2412],"2D;":[2280,2385],"2;":[2284,2389],"3A,":[2287],"3\u2014source":[2291,2395,2815,2830,3130,3259,3499,3604,3632],"pool.":[2310],"decrease":[2316],"GSL":[2318,3741],"levels.":[2319,3554],"Doxycycline-induced":[2320],"partially":[2325],"pool,":[2329],"because":[2331],"unlike":[2333],"no":[2338,3171,3189],"direct":[2339],"access":[2340],"ER-derived":[2342,4034,4065],"must":[2345],"compete":[2346,2405],"GlcCer":[2348],"contained":[2363,3135,3162,3334,3478,3753,3775],"three-":[2364],"higher":[2367,3249,3480,3705,3777],"levels":[2368,3165,3369,3515,3558,3638,3713,3756,3778],"(Cer":[2371],"dihydroceramide-based":[2374],"(SM":[2376],"than":[2378,3252],"SMS2-expressing":[2381],"3B;":[2392,3128],"1),":[2397],"DES1":[2409],"All":[2417,2799,3007,3072],"together,":[2418],"Lipidome":[2434],"isolated":[2440,2595,2846,3119,3441],"next":[2448,3431,3844],"interfere":[2463],"ability":[2466],"concentration":[2473],"express":[2498],"either":[2499],"SMS2M64R.":[2505,2780,3032,3450],"For":[2506,2537],"purification":[2507,2626,2874],"lysed":[2513,2664,2912],"post-nuclear":[2516,2558],"supernatant":[2517,2559],"incubated":[2519,2563,4203,4226],"calnexin":[2524,3136],"3A).":[2526],"followed":[2529],"incubation":[2531,4010],"secondary":[2533],"antibody-conjugated":[2534],"paramagnetic":[2535,2566],"microbeads.":[2536,2567],"isolation,":[2539],"non-membrane":[2548],"permeant":[2549],"biotinylation":[2550],"reagent":[2551],"before":[2552,4004],"lysis":[2554],"4A).":[2556],"A":[2557,3896],"streptavidin-conjugated":[2565],"microbeads":[2569],"applied":[2571],"columns":[2573,2588],"packed":[2574],"ferromagnetic":[2576],"spheres":[2577],"(\u03bcMACS":[2578],"columns)":[2579],"bound":[2582],"material":[2583],"eluted":[2585],"after":[2586],"thoroughly":[2590],"washed.":[2591],"purity":[2593],"assessed":[2600],"lipidome":[2604,3361,4091],"analysis.":[2605],"3":[2607],"Workflow":[2623,2871],"affinity":[2625,2873],"variants.":[2638,2869,2886],"(WT)":[2642,2716,2890,2964],"(1":[2660,2908],"\u03bcg/ml,":[2661,2909],"hr),":[2663],"purify":[2668,2916],"(A).":[2673,2921],"Whole":[2674,2922],"lysates":[2676,2707,2747,2924,2955,2992,3255,3395],"(WC)":[2677,2708,2748,2925,2956,2993],"various":[2691,2939,3728],"markers.":[2693,2941],"Samples":[2694,2942],"loaded":[2696,2944],"equivalents":[2699,2947],"basis.":[2700,2948],"Lipid":[2702,2742,2857,2950,2987],"whole":[2705,2745,2843,2953,2990,3116],"spectrometry-based":[2721,2969],"lipidomics.":[2723,2971],"Levels":[2724,2972],"classes":[2729,2977],"CE,":[2738],"cholesteryl":[2739],"esters.":[2740],"(C).":[2761,3006],"(E)":[2762,3014],"Comparative":[2763,3015],"unsaturation":[2767,3019,3036,3576],"chain":[2769,3021,3038,3608],"length":[2770,3022,3039],"graphs":[2782,3053],"numbers":[2785,3056],"bonds":[2788,3059],"(left)":[2789,3060],"carbon":[2791,3062],"atoms":[2792,3063],"(right)":[2793,3064],"acyl":[2797,3070],"chains.":[2798],"SD,":[2804,3012,3077],"n=4.":[2805],"*p<0.05,":[2806,3079],"**p<0.01,":[2807,3080],"***p<0.001,":[2808,3081],"****p<0.0001":[2809,3082],"paired":[2811,3084],"t":[2812,3085],"test.":[2813,3086],"https://cdn.elifesciences.org/articles/79278/elife-79278-fig3-data1-v2.pdf":[2826],"elife-79278-fig3-data1-v2.pdf":[2828],"https://cdn.elifesciences.org/articles/79278/elife-79278-fig3-data2-v2.xlsx":[2848],"elife-79278-fig3-data2-v2.xlsx":[2850],"4":[2852],"h),":[2911],"n=5.":[3013,3078],"included":[3049],"reference.":[3051],"sphingoid":[3067],"base":[3068],"chain.":[3071],"4\u2014source":[3088,3103,3322,3399,3709,3792],"https://cdn.elifesciences.org/articles/79278/elife-79278-fig4-data1-v2.pdf":[3099],"elife-79278-fig4-data1-v2.pdf":[3101],"https://cdn.elifesciences.org/articles/79278/elife-79278-fig4-data2-v2.xlsx":[3121]},"counts_by_year":[],"updated_date":"2026-11-02T09:45:03.842371","created_date":"2022-10-05T00:00:00"}
