{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:25:50Z","timestamp":1787502350568,"version":"build-2736575974"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,11,6]],"date-time":"2021-11-06T00:00:00Z","timestamp":1636156800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000864","name":"Michael J. Fox Foundation for Parkinson's Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000864","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K02NS080915"],"award-info":[{"award-number":["K02NS080915"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["UL1TR000040"],"award-info":[{"award-number":["UL1TR000040"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013301","name":"Parkinson's Foundation","doi-asserted-by":"publisher","award":["Stanley Fahn Junior Faculty Award"],"award-info":[{"award-number":["Stanley Fahn Junior Faculty Award"]}],"id":[{"id":"10.13039\/100013301","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Biallelic mutations in the\n                      <jats:italic>GBA1<\/jats:italic>\n                      gene encoding glucocerebrosidase cause Gaucher's disease, whereas heterozygous carriers are at risk for Parkinson's disease (PD). Glucosylsphingosine is a clinically meaningful biomarker of Gaucher's disease but could not be assayed previously in heterozygous\n                      <jats:italic>GBA1<\/jats:italic>\n                      carriers.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      The aim of this study was to assess plasma glucosylsphingosine levels in\n                      <jats:italic>GBA1<\/jats:italic>\n                      N370S carriers with and without PD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Glucosylsphingosine, glucosylceramide, and four other lipids were quantified in plasma from N370S heterozygotes with (n\u00a0=\u00a020) or without (n\u00a0=\u00a020) PD, healthy controls (n\u00a0=\u00a020), idiopathic PD (n\u00a0=\u00a020), and four N370S homozygotes (positive controls; Gaucher's\/PD) using quantitative ultra\u2010performance liquid chromatography tandem mass spectrometry.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Plasma glucosylsphingosine was significantly higher in N370S heterozygotes compared with noncarriers, independent of disease status. As expected, Gaucher's\/PD cases showed increases in both glucocerebrosidase substrates, glucosylsphingosine and glucosylceramide.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Plasma glucosylsphingosine accumulation in N370S heterozygotes shown in this study opens up its future assessment as a clinically meaningful biomarker of\n                      <jats:italic>GBA1<\/jats:italic>\n                      \u2010PD. \u00a9 2021 The Authors.\n                      <jats:italic>Movement Disorders<\/jats:italic>\n                      published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.28846","type":"journal-article","created":{"date-parts":[[2021,11,6]],"date-time":"2021-11-06T08:18:04Z","timestamp":1636186684000},"page":"416-421","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":48,"title":["Plasma Glucosylsphingosine in\n                    <scp>\n                      <i>GBA1<\/i>\n                    <\/scp>\n                    Mutation Carriers with and without Parkinson's Disease"],"prefix":"10.1002","volume":"37","author":[{"given":"Matthew","family":"Surface","sequence":"first","affiliation":[{"name":"Department of Neurology, College of Physicians and Surgeons Columbia University  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manisha","family":"Balwani","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"Waters","sequence":"additional","affiliation":[{"name":"Department of Neurology, College of Physicians and Surgeons Columbia University  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Haimovich","sequence":"additional","affiliation":[{"name":"Department of Neurology, College of Physicians and Surgeons Columbia University  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0332-234X","authenticated-orcid":false,"given":"Ziv","family":"Gan\u2010Or","sequence":"additional","affiliation":[{"name":"The Neuro (Montreal Neurological Institute\u2010Hospital) McGill University  Montreal Quebec Canada"},{"name":"Department of Neurology and Neurosurgery McGill University  Montreal Quebec Canada"},{"name":"Department of Human Genetics McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen S.","family":"Marder","sequence":"additional","affiliation":[{"name":"Department of Neurology, College of Physicians and Surgeons Columbia University  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tammy","family":"Hsieh","sequence":"additional","affiliation":[{"name":"Nextcea, Inc.  Woburn Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linxia","family":"Song","sequence":"additional","affiliation":[{"name":"Nextcea, Inc.  Woburn Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6933-416X","authenticated-orcid":false,"given":"Shalini","family":"Padmanabhan","sequence":"additional","affiliation":[{"name":"The Michael J. Fox Foundation for Parkinson's Research  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Hsieh","sequence":"additional","affiliation":[{"name":"Nextcea, Inc.  Woburn Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalpana M.","family":"Merchant","sequence":"additional","affiliation":[{"name":"Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5717-4875","authenticated-orcid":false,"given":"Roy N.","family":"Alcalay","sequence":"additional","affiliation":[{"name":"Department of Neurology, College of Physicians and Surgeons Columbia University  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,11,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20676"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/89.9.691"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0901281"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000304039.11891.29"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.06.001"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuint.2017.12.014"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1525-17.2017"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2017.12.012"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13024-019-0339-z"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2018.02.028"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28704"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199105233242104"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24491"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-05-352971"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv179"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28525"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-020-09705-7"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27414"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40263-020-00746-0"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318245f476"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2014.313"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.107"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-302402"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28472"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/1873-3468.12104"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1042\/EBC20190090"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00117-8"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27895"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt367"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.28846","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mds.28846","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.28846","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:06:33Z","timestamp":1760961993000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.28846"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,6]]},"references-count":29,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["10.1002\/mds.28846"],"URL":"https:\/\/doi.org\/10.1002\/mds.28846","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,6]]},"assertion":[{"value":"2021-07-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}