{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T01:03:10Z","timestamp":1792371790899,"version":"4.4.0"},"reference-count":33,"publisher":"National Academy of Sciences","issue":"13","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    Type 1 Gaucher disease (GD1) is a rare autosomal recessive disorder caused by inherited mutations in the glucocerebrosidase (\n                    <jats:italic>GBA1<\/jats:italic>\n                    ) gene. This disease results in a marked accumulation of glycosphingolipid substrates, causing visceromegaly, cytopenia, and osteopenia. Here, we have rescued this clinical phenotype in GD1 mice by genetically deleting\n                    <jats:italic>Gba2<\/jats:italic>\n                    , a gene encoding a downstream extralysosomal enzyme, GBA2. We also report that sphingosine production in GD1 patients may contribute to the low-turnover bone loss. Our data suggest that GBA2 and sphingosine are potential targets for pharmacological intervention in GD1 patients.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1400768111","type":"journal-article","created":{"date-parts":[[2014,3,18]],"date-time":"2014-03-18T01:41:09Z","timestamp":1395106869000},"page":"4934-4939","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":112,"title":["Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease"],"prefix":"10.1073","volume":"111","author":[{"given":"Pramod K.","family":"Mistry","sequence":"first","affiliation":[{"name":"Department of Medicine, Yale School of Medicine, New Haven, CT 06520;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Medicine, Yale School of Medicine, New Haven, CT 06520;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Sun","sequence":"additional","affiliation":[{"name":"Mount Sinai Bone Program,"},{"name":"Department of Medicine, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-Lien","family":"Chuang","sequence":"additional","affiliation":[{"name":"Genzyme Sanofi, Framingham, MA 01701; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tony","family":"Yuen","sequence":"additional","affiliation":[{"name":"Mount Sinai Bone Program,"},{"name":"Department of Medicine, and"},{"name":"Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruhua","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Medicine, Yale School of Medicine, New Haven, CT 06520;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Lu","sequence":"additional","affiliation":[{"name":"Mount Sinai Bone Program,"},{"name":"Department of Medicine, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Zhang","sequence":"additional","affiliation":[{"name":"Genzyme Sanofi, Framingham, MA 01701; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianhua","family":"Li","sequence":"additional","affiliation":[{"name":"Mount Sinai Bone Program,"},{"name":"Department of Medicine, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan","family":"Keutzer","sequence":"additional","affiliation":[{"name":"Genzyme Sanofi, Framingham, MA 01701; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnes","family":"Stachnik","sequence":"additional","affiliation":[{"name":"Mount Sinai Bone Program,"},{"name":"Department of Medicine, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Mennone","sequence":"additional","affiliation":[{"name":"Department of Medicine, Yale School of Medicine, New Haven, CT 06520;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James L.","family":"Boyer","sequence":"additional","affiliation":[{"name":"Department of Medicine, Yale School of Medicine, New Haven, CT 06520;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhanpat","family":"Jain","sequence":"additional","affiliation":[{"name":"Department of Medicine, Yale School of Medicine, New Haven, CT 06520;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roscoe O.","family":"Brady","sequence":"additional","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20824"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria I.","family":"New","sequence":"additional","affiliation":[{"name":"Mount Sinai Bone Program,"},{"name":"Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mone","family":"Zaidi","sequence":"additional","affiliation":[{"name":"Mount Sinai Bone Program,"},{"name":"Department of Medicine, and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2014,3,17]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation.V2012.1.13.3797921"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.X110.197954"},{"key":"e_1_3_3_3_2","first-page":"273","article-title":"Gaucher disease: Insights from a rare Mendelian disorder","volume":"14","author":"Sidransky E","year":"2012","unstructured":"E Sidransky, Gaucher disease: Insights from a rare Mendelian disorder. 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