| http://purl.uniprot.org/citations/8988171 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8988171 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8988171 | http://www.w3.org/2000/01/rdf-schema#comment | "Angelman syndrome (AS), characterized by mental retardation, seizures, frequent smiling and laughter, and abnormal gait, is one of the best examples of human disease in which genetic imprinting plays a role. In about 70% of cases, AS is caused by de novo maternal deletions at 15q11-q13 (ref. 2). Approximately 2% of AS cases are caused by paternal uniparental disomy (UPD) of chromosome 15 (ref. 3) and 2-3% are caused by "imprinting mutations'. In the remaining 25% of AS cases, no deletion, uniparental disomy (UPD), or methylation abnormality is detectable, and these cases, unlike deletions or UPD, can be familial. These cases are likely to result from mutations in a gene that is expressed either exclusively or preferentially from the maternal chromosome 15. We have found that a 15q inversion inherited by an AS child from her normal mother disrupts the 5' end of the UBE3A (E6-AP) gene, the product of which functions in protein ubiquitination. We have looked for novel UBE3A mutations in nondeletion/non-UPD/non-imprinting mutation (NDUI) AS patients and have found one patient who is heterozygous for a 5-bp de novo tandem duplication. We have also found in two brothers a heterozygous mutation, an A to G transition that creates a new 3' splice junction 7 bp upstream from the normal splice junction. Both mutations are predicted to cause a frameshift and premature termination of translation. Our results demonstrate that UBE3A mutations are one cause of AS and indicate a possible abnormality in ubiquitin-mediated protein degradation during brain development in this disease."xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0197-70"xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0197-70"xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/author | "Kishino T."xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/author | "Kishino T."xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/author | "Wagstaff J."xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/author | "Wagstaff J."xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/author | "Lalande M."xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/author | "Lalande M."xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/pages | "70-73"xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/pages | "70-73"xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/title | "UBE3A/E6-AP mutations cause Angelman syndrome."xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/title | "UBE3A/E6-AP mutations cause Angelman syndrome."xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/volume | "15"xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://purl.uniprot.org/core/volume | "15"xsd:string |
| http://purl.uniprot.org/citations/8988171 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/8988171 |
| http://purl.uniprot.org/citations/8988171 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/8988171 |
| http://purl.uniprot.org/citations/8988171 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/8988171 |
| http://purl.uniprot.org/citations/8988171 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/8988171 |