{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T10:43:20Z","timestamp":1790505800355,"version":"4.1.0"},"reference-count":45,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2010,12]]},"DOI":"10.1016\/j.ymgme.2010.08.006","type":"journal-article","created":{"date-parts":[[2010,8,15]],"date-time":"2010-08-15T04:42:44Z","timestamp":1281847364000},"page":"357-363","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":44,"title":["Tay-Sachs disease in Jacob sheep"],"prefix":"10.1016","volume":"101","author":[{"given":"Paola A.","family":"Torres","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bai Jin","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian F.","family":"Porter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Alroy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fred","family":"Horak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan","family":"Horak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin H.","family":"Kolodny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2010.08.006_bb0005","first-page":"1010","article-title":"Molecular genetics of the \u03b2-hexosaminidase isoenzymes: an introduction","volume":"44","author":"Kolodny","year":"2001","journal-title":"Adv. Genet."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0010","series-title":"The Molecular and Genetic Basis of Neurologic and Psychiatric Disease","first-page":"221","article-title":"Tay-Sachs Disease","author":"Kolodny","year":"2007"},{"key":"10.1016\/j.ymgme.2010.08.006_bb0015","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1126\/science.404709","article-title":"M.D., Lorenz, J.V. Murphy, H.J. Baker, M.C., Rattazzi, GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency","volume":"196","author":"Cork","year":"1977","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2010.08.006_bb0020","first-page":"723","article-title":"The pathology of feline GM2 gangliosidosis","volume":"90","author":"Cork","year":"1978","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0025","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1172\/JCI111997","article-title":"Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats","volume":"76","author":"Neuwelt","year":"1985","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0030","first-page":"1109","article-title":"Characterization of the molecular defect in a feline model of type II GM2-gangliosidosis (Sandhoff disease)","volume":"144","author":"Muldoon","year":"1994","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0035","first-page":"739","article-title":"GM2-gangliosidosis variant O (Sandhoff-like disease) in a family of Japanese domestic cats","volume":"155","author":"Yamato","year":"2004","journal-title":"Vet. Rec."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0040","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.expneurol.2004.01.008","article-title":"An inversion of 25 base pairs causes feline GM2 gangliosidosis variant O","volume":"187","author":"Martin","year":"2004","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0045","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.jfms.2006.11.003","article-title":"Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat","volume":"9","author":"Hasegawa","year":"2007","journal-title":"J. Fel. Med. Surg."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0050","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.rvsc.2006.05.007","article-title":"Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats","volume":"82","author":"Kanae","year":"2007","journal-title":"Res. Vet. Sci."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0055","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.ymgme.2009.01.003","article-title":"H.J. Baker, D. R. Martin, Neurodegenerative lysosomal storage disease in Eastern Burmese cats with hexosaminidase \u03b2-subunit deficiency","volume":"97","author":"Bradbury","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0060","first-page":"223","article-title":"Familial amaurotic idiocy in male German shorthair Pointers","volume":"4","author":"Karbe","year":"1967","journal-title":"Pathol. Vet."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0065","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/978-1-4684-1200-0_36","article-title":"Canine GM2-gangliosidosis: chemical and enzymatic features","volume":"174","author":"Eto","year":"1984","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0070","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/BF00687809","article-title":"GM2 gangliosidosis in a Japanese spaniel","volume":"67","author":"Cummings","year":"1985","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0075","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1177\/030098588902600203","article-title":"Canine GM2-gangliosidosis: morphological and biochemical analysis","volume":"26","author":"Singer","year":"1989","journal-title":"Vet. Pathol."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0080","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1023\/A:1016562626961","article-title":"Sandhoff disease in a golden retriever dog","volume":"25","author":"Yamato","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0085","first-page":"67","article-title":"Cerebrospinal lipodystrophy in swine. A new disease model in comparative pathology","volume":"5","author":"Read","year":"1968","journal-title":"Pathol. Vet."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0090","first-page":"419","article-title":"Animal model of human disease: GM2 gangliosidosis","volume":"83","author":"Pierce","year":"1976","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0095","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1177\/030098587801500601","article-title":"Clinical and biochemical abnormalities in porcine GM2-gangliosidosis","volume":"15","author":"Kosanke","year":"1978","journal-title":"Vet. Pathol."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0100","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1007\/s00401-005-1040-6","article-title":"Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis","volume":"110","author":"Martin","year":"2005","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0105","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1111\/j.1471-4159.1987.tb05596.x","article-title":"Biochemical basis of type AB GM2-gangliosidosis in a Japanese spaniel","volume":"48","author":"Ishikawa","year":"1987","journal-title":"J. Neurochem."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0110","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s004010050955","article-title":"Naturally occurring GM2 gangliosidosis in two Muntjak deer with pathological and biochemical features of human classical Tay-Sachs disease (type B GM2 gangliosidosis)","volume":"97","author":"Fox","year":"1999","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0115","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.ymgme.2008.06.010","article-title":"Spontaneous appearance of Tay-Sachs disease in an animal model","volume":"95","author":"Zeng","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0120","doi-asserted-by":"crossref","first-page":"1426","DOI":"10.1016\/S0021-9258(19)76989-0","article-title":"Properties of a particle-bound enzyme from rat intestine that cleaves sialic acid from Tay-Sachs ganglioside","volume":"246","author":"Kolodny","year":"1971","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0125","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1023\/A:1005419122018","article-title":"Glycosphingolipid degradation and animal models of GM2-gangliosidoses","volume":"21","author":"Kolter","year":"1998","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0130","unstructured":"B.F. Porter, B. Lewis, J.F. Edwards, J. Alroy, B.J. Zeng, P.A. Torres, E.H. Kolodny, Clinical and pathologic aspects of GM2 gangliosidosis (Tay-Sachs disease) in Jacob Sheep. Vet. Pathol. Accepted for publication."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0135","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/0009-8981(76)90426-5","article-title":"Human leukocyte acid hydrolases: characterization of eleven lysosomal enzymes and study of reaction conditions for their automated analysis","volume":"70","author":"Kolodny","year":"1976","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2010.08.006_bb0140","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","article-title":"Protein measurement with the Folin phenol reagent","volume":"193","author":"Lowry","year":"1951","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0145","first-page":"1086","article-title":"Separation of N-acetyl- -D-hexosaminamidase-isoenzymes from human brain and leukocytes by cellulose acetate paper electrophoresis: a simple procedure for the diagnosis of Tay-Sachs disease","volume":"7","author":"Klibansky","year":"1971","journal-title":"Isr. J. Med. Sci."},{"issue":"1","key":"10.1016\/j.ymgme.2010.08.006_bb0150","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/S0021-9258(18)64849-5","article-title":"A simple method for the isolation and purification of total lipides from animal tissues","volume":"226","author":"Folch","year":"1957","journal-title":"Biol. Chem."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0155","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1111\/j.1471-4159.1980.tb12515.x","article-title":"The use of Sep-Pak C18 cartridges during the isolation of gangliosides","volume":"35","author":"Williams","year":"1980","journal-title":"J. Neurochem."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0160","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1042\/bj0810384","article-title":"Methods for the quantitative estimation of N-acetylneuraminic acid and their application to hydrolysates of sialomucoids","volume":"81","author":"Aminoff","year":"1961","journal-title":"Biochem. J."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0165","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/0009-8981(72)90220-3","article-title":"Quantitative thin-layer chromatography of glycolipids in animal tissues","volume":"38","author":"Neskovic","year":"1972","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2010.08.006_bb0170","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/0021-9673(95)00499-8","article-title":"High-resolution thin-layer chromatography of gangliosides","volume":"720","author":"Muthing","year":"1996","journal-title":"J. Chromatogr. A"},{"key":"10.1016\/j.ymgme.2010.08.006_bb0175","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1023\/A:1022091223498","article-title":"Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease","volume":"25","author":"Zeng","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0180","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.ymgme.2006.05.014","article-title":"Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease","volume":"89","author":"Zeng","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0185","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/S1095-6433(97)00445-5","article-title":"Sialic acid concentration of brain gangliosides: variation among eight mammalian species","volume":"119","author":"Wang","year":"1998","journal-title":"Comp. Biochem. Physiol. A Mol. Integr. Physiol."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0190","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1212\/WNL.47.2.547","article-title":"Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180\u2013>His) in the Hex A alpha-chain gene","volume":"47","author":"De Gasperi","year":"1996","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2010.08.006_bb0195","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1002\/(SICI)1098-1004(1997)10:6<451::AID-HUMU6>3.0.CO;2-G","article-title":"Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease","volume":"10","author":"Drucker","year":"1997","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0200","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1002\/(SICI)1098-1004(1998)11:6<432::AID-HUMU3>3.0.CO;2-Z","article-title":"W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis","volume":"11","author":"Petroulakis","year":"1998","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0205","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1002\/humu.1380010107","article-title":"Novel Tay-Sachs disease mutations from China","volume":"1","author":"Akalin","year":"1992","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0210","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1159\/000484748","article-title":"A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts","volume":"5","author":"Fernandes","year":"1997","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0215","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/humu.1380010106","article-title":"A glycine250\u2013>aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese\u2013Canadian family","volume":"1","author":"Trop","year":"1992","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2010.08.006_bb0220","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1126\/science.2522679","article-title":"The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease","volume":"243","author":"Navon","year":"1989","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2010.08.006_bb0225","doi-asserted-by":"crossref","first-page":"69","DOI":"10.4067\/S0716-97602009000100007","article-title":"Molecular cloning, sequence identification and tissue expression profile of three novel sheep (Ovis aries) genes \u2013 BCKDHA, NAGA and HEXA","volume":"42","author":"Liu","year":"2009","journal-title":"Biol. Res."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719210003021?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719210003021?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:20:18Z","timestamp":1761088818000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719210003021"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12]]},"references-count":45,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["S1096719210003021"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2010.08.006","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2010,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Tay-Sachs disease in Jacob sheep","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2010.08.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}