{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:11:21Z","timestamp":1787497881089,"version":"build-2736575974"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100013301","name":"Parkinson's Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013301","id-type":"DOI","asserted-by":"publisher"}]},{"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\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K02NS080915"],"award-info":[{"award-number":["K02NS080915"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UL1TR000040"],"award-info":[{"award-number":["UL1TR000040"]}],"id":[{"id":"10.13039\/100000002","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":[[2026,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      <jats:italic>GBA1<\/jats:italic>\n                      encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in\n                      <jats:italic>GBA1<\/jats:italic>\n                      that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease. Plasma glucosylsphingosine levels have previously been shown to be higher in\n                      <jats:italic>GBA1<\/jats:italic>\n                      N409S heterozygous carriers, but its levels in E365K carriers are unknown.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      The aim was to measure plasma glucosylsphingosine levels in\n                      <jats:italic>GBA1<\/jats:italic>\n                      N409S, E365K, and L483P heterozygous mutation carriers with and without PD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Glucosylsphingosine was quantified in plasma from 112 participants using liquid chromatography\u2013tandem mass spectrometry targeted quantification.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Plasma glucosylsphingosine concentration was significantly higher in N409S (0.59\u2009ng\/mL,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.004), E365K (0.59\u2009ng\/mL,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.01), and L483P (0.63\u2009ng\/mL,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.003) heterozygotes compared to noncarriers (0.45\u2009ng\/mL), independent of disease status.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Elevated plasma glucosylsphingosine confirms reduced glucocerebrosidase function in E365K carriers. \u00a9 2026 Merck &amp;Co. Inc. and The Author(s).\n                      <jats:italic>Movement Disorders<\/jats:italic>\n                      published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.70205","type":"journal-article","created":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T11:11:16Z","timestamp":1768821076000},"page":"1304-1309","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Plasma Glucosylsphingosine in\n                    <scp>\n                      <i>GBA1<\/i>\n                      E365K\n                    <\/scp>\n                    ,\n                    <scp>N409S,<\/scp>\n                    and\n                    <scp>L483P<\/scp>\n                    Heterozygous Mutation Carriers"],"prefix":"10.1002","volume":"41","author":[{"given":"Julian","family":"Agin\u2010Liebes","sequence":"first","affiliation":[{"name":"Department of Neurology Columbia University Irving Medical Center  New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8856-952X","authenticated-orcid":false,"given":"Alexander","family":"Haimovich","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Irving Medical Center  New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Griep","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Irving Medical Center  New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan Galen","family":"Hatcher","sequence":"additional","affiliation":[{"name":"Merck &amp; Co., Inc  Rahway New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihang","family":"Yao","sequence":"additional","affiliation":[{"name":"Merck &amp; Co., Inc  Rahway New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"Waters","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Irving Medical Center  New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shalini","family":"Padmanabhan","sequence":"additional","affiliation":[{"name":"The Michael J. Fox Foundation for Parkinson's Research  New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roy N.","family":"Alcalay","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Irving Medical Center  New York USA"},{"name":"Department of Neurology Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Tel Aviv Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,19]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20676"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2005.07.005"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25248"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awae142"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awae188"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv179"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199105233242104"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(23)00205-3"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24491"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-05-352971"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28846"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.27219"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2024.107023"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.70205","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mds.70205","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.70205","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T10:06:05Z","timestamp":1779789965000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.70205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,19]]},"references-count":13,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1002\/mds.70205"],"URL":"https:\/\/doi.org\/10.1002\/mds.70205","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,19]]},"assertion":[{"value":"2025-11-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}