{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:21:35Z","timestamp":1790043695694,"version":"4.0.1"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,10,27]],"date-time":"2010-10-27T00:00:00Z","timestamp":1288137600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2011,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gaucher disease, an autosomal recessive lysosomal storage disorder caused by mutations in the \u03b2\u2010glucocerebrosidase gene, was recently discovered in sheep on a \u201cSouthdown\u201d sheep stud in Victoria, Australia. Clinical signs include neuropathy, thickened leathery skin, and ichthyosis, with lambs unable to stand from birth. Affected lambs were found to be deficient in glucocerebrosidase activity, and mutational analysis found them to be homozygous for the missense mutations c.1142G&gt;A (p.C381Y) and c.1400C&gt;T (p.P467L). In addition, four silent mutations were detected (c.777C&gt;A [p.Y259Y], c1203A&gt;G [p.Q401Q], c.1335T&gt;C [p.I445I], c.1464C&gt;G [p.L488L]). The human equivalent [C342Y] to the C381Y mutation leads to an acute neuronopathic phenotype in patients. Identification of an acute neuronopathic form of Gaucher disease in sheep provides a large animal model that will enable studies of pathology and evaluation of therapies to treat this common lysosomal storage disorder.<\/jats:p>","DOI":"10.1007\/s10545-010-9230-3","type":"journal-article","created":{"date-parts":[[2010,10,26]],"date-time":"2010-10-26T10:50:21Z","timestamp":1288090221000},"page":"209-215","source":"Crossref","is-referenced-by-count":28,"title":["Gaucher disease in sheep"],"prefix":"10.1002","volume":"34","author":[{"given":"Litsa","family":"Karageorgos","sequence":"first","affiliation":[{"name":"Lysosomal Diseases Research Unit, A Research Centre of SA Pathology Women's and Children's Hospital North Adelaide SA 5006 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malcolm J.","family":"Lancaster","sequence":"additional","affiliation":[{"name":"Department of Primary Industries Attwood VIC Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith S.","family":"Nimmo","sequence":"additional","affiliation":[{"name":"ASAP Laboratory Mulgrave VIC Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J.","family":"Hopwood","sequence":"additional","affiliation":[{"name":"Lysosomal Diseases Research Unit, A Research Centre of SA Pathology Women's and Children's Hospital North Adelaide SA 5006 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,10,27]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279398"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2005.07.005"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610312.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0378-1119(90)90264-R"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410230315"},{"issue":"1","key":"e_1_2_7_7_1","first-page":"91","article-title":"Neurovisceral glucoceregroside storage (Gaucher's disease) in a dog","volume":"10","author":"Hartley WJ","year":"1973","journal-title":"Vet Pathol"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90319-4"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20676"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0606016103"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-0813.1968.tb09137.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/83.4.516"},{"key":"e_1_2_7_13_1","first-page":"590","article-title":"An ultrastructural and experimental study on the development of tubular structures in the lysosomes of Gaucher cells","volume":"58","author":"Naito M","year":"1988","journal-title":"Lab Invest"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1711000310"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199601000-00020"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3269"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)63566-3"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9230-3","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-010-9230-3","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9230-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T19:48:07Z","timestamp":1694807287000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-010-9230-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10,27]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["10.1007\/s10545-010-9230-3"],"URL":"https:\/\/doi.org\/10.1007\/s10545-010-9230-3","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,10,27]]}}}