| http://purl.uniprot.org/citations/16344554 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16344554 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16344554 | http://www.w3.org/2000/01/rdf-schema#comment | "The extensive use of a limited number of elite bulls in cattle breeding can lead to rapid spread of recessively inherited disorders. A recent example is the globally distributed syndrome Complex Vertebral Malformation (CVM), which is characterized by misshapen and fused vertebrae around the cervico-thoracic junction. Here, we show that CVM is caused by a mutation in the Golgi-resident nucleotide-sugar transporter encoded by SLC35A3. 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-N-acetylglucosamine into its Golgi lumen can be rescued by the wild-type SLC35A3 gene, but not by the mutated gene. These results provide the first demonstration of a genetic disorder associated with a defective SLC35A3 gene, and reveal a new mechanism for malformation of the vertebral column caused by abnormal nucleotide-sugar transport into the Golgi apparatus."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.org/dc/terms/identifier | "doi:10.1101/gr.3690506"xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.org/dc/terms/identifier | "doi:10.1101/gr.3690506"xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Bendixen E."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Bendixen E."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Bendixen C."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Bendixen C."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Horn P."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Horn P."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Panitz F."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Panitz F."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Thomsen B."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Thomsen B."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Agerholm J.S."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Agerholm J.S."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Arnbjerg J."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Arnbjerg J."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Holm L.E."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Holm L.E."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Nielsen V.H."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Nielsen V.H."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Petersen A.H."xsd:string |
| http://purl.uniprot.org/citations/16344554 | http://purl.uniprot.org/core/author | "Petersen A.H."xsd:string |