{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T04:03:01Z","timestamp":1790395381071,"version":"4.1.0"},"reference-count":0,"publisher":"Walter de Gruyter GmbH","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biological Chemistry"],"published-print":{"date-parts":[[2013,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Mutations in the gene encoding glucocerebrosidase (<jats:italic>GBA1<\/jats:italic>) cause Gaucher disease (GD), a lysosomal storage disease with recessive inheritance. Glucocerebrosidase (GCase) is a lysosomal lipid hydrolase that digests glycolipid substrates, such as glucosylceramide and glucosylsphingosine. <jats:italic>GBA1<\/jats:italic> mutations have been implicated in Lewy body diseases (LBDs), such as Parkinson\u2019s disease and dementia with Lewy bodies. Parkinsonism occurs more frequently in certain types of GD, and <jats:italic>GBA1<\/jats:italic> mutation carriers are more likely to have LBDs than non-carriers. Furthermore, GCase is often found in Lewy bodies, which are composed of \u03b1-synuclein fibrils as well as a variety of proteins and vesicles. In this review, we discuss potential mechanisms of action of <jats:italic>GBA1<\/jats:italic> mutations in LBDs with particular emphasis on \u03b1-synuclein aggregation by reviewing the current literature on the role of GCase in lysosomal functions and glycolipid metabolism.<\/jats:p>","DOI":"10.1515\/hsz-2012-0322","type":"journal-article","created":{"date-parts":[[2013,2,22]],"date-time":"2013-02-22T11:54:40Z","timestamp":1361534080000},"page":"807-818","source":"Crossref","is-referenced-by-count":14,"title":["Glucocerebrosidase, a new player changing the old rules in Lewy body diseases"],"prefix":"10.1515","volume":"394","author":[{"given":"Na-Young","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Biomedical Science and Technology, Konkuk University, Seoul 143-701, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Na","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science and Technology, Konkuk University, Seoul 143-701, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"He-Jin","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoon Suk","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Biomedical Laboratory Science, Yonsei University, Wonju 220-710, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seung-Jae","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2013,2,21]]},"container-title":["bchm"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/bchm.2013.394.issue-7\/hsz-2012-0322\/hsz-2012-0322.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/hsz-2012-0322\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/hsz-2012-0322\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,14]],"date-time":"2022-03-14T15:27:11Z","timestamp":1647271631000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/hsz-2012-0322\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,21]]},"references-count":0,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2013,3,3]]},"published-print":{"date-parts":[[2013,7,1]]}},"alternative-id":["10.1515\/hsz-2012-0322"],"URL":"https:\/\/doi.org\/10.1515\/hsz-2012-0322","relation":{},"ISSN":["1437-4315","1431-6730"],"issn-type":[{"value":"1437-4315","type":"electronic"},{"value":"1431-6730","type":"print"}],"subject":[],"published":{"date-parts":[[2013,2,21]]}}}