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Thus, the disease showed complete cosegregation with the mutation in a homozygous state, and proteome patterns indicated abnormal protein glycosylation in tissues of affected animals. In addition, a yeast mutant that is deficient in the transport of UDP-<jats:italic>N<\/jats:italic>-acetylglucosamine into its Golgi lumen can be rescued by the wild-type <jats:italic>SLC35A3<\/jats:italic> gene, but not by the mutated gene. These results provide the first demonstration of a genetic disorder associated with a defective <jats:italic>SLC35A3<\/jats:italic> gene, and reveal a new mechanism for malformation of the vertebral column caused by abnormal nucleotide-sugar transport into the Golgi apparatus.<\/jats:p>","DOI":"10.1101\/gr.3690506","type":"journal-article","created":{"date-parts":[[2005,12,13]],"date-time":"2005-12-13T02:03:58Z","timestamp":1134439438000},"page":"97-105","source":"Crossref","is-referenced-by-count":163,"title":["A missense mutation in the bovine <i>SLC35A3<\/i> gene, encoding a UDP-<i>N<\/i>-acetylglucosamine transporter, causes complex vertebral malformation"],"prefix":"10.1101","volume":"16","author":[{"given":"Bo","family":"Thomsen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Per","family":"Horn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Panitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Em\u00f8ke","family":"Bendixen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anette H.","family":"Petersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars-Erik","family":"Holm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivi H.","family":"Nielsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f8rgen S.","family":"Agerholm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens","family":"Arnbjerg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Bendixen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2005,12,12]]},"reference":[{"key":"2021111811011848000_16.1.97.1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.122.2.307"},{"key":"2021111811011848000_16.1.97.2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.12.5963"},{"key":"2021111811011848000_16.1.97.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(97)01053-0"},{"key":"2021111811011848000_16.1.97.4","doi-asserted-by":"publisher","DOI":"10.1177\/104063870101300401"},{"key":"2021111811011848000_16.1.97.5","doi-asserted-by":"publisher","DOI":"10.1177\/104063870401600609"},{"key":"2021111811011848000_16.1.97.6","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1217404"},{"key":"2021111811011848000_16.1.97.7","doi-asserted-by":"publisher","DOI":"10.1016\/S1534-5807(03)00055-8"},{"key":"2021111811011848000_16.1.97.8","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/S0021-9258(17)42335-0","volume":"269","year":"1994","journal-title":"J. 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