1998
Imprinting in Angelman and Prader-Willi syndromes
Jiang Y, Tsai T, Bressler J, Beaudet A. Imprinting in Angelman and Prader-Willi syndromes. Current Opinion In Genetics & Development 1998, 8: 334-342. PMID: 9691003, DOI: 10.1016/s0959-437x(98)80091-9.Peer-Reviewed Original ResearchConceptsE6-AP ubiquitin-protein ligaseUbiquitin-protein ligaseAnalysis of methylationTissue-specific imprintingAngelman syndromeSNRPN promoterPrader-Willi syndromeAS genesMaternal chromosomesGene expressionGenomic sequencingPoint mutationsGenesBisulfite methodMethylationCandidate regionsImprintingHippocampal neuronsDrosophilaNecdinSNRPNLigaseChromosomesPromoterPurkinje cells
1997
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
Matsuura T, Sutcliffe J, Fang P, Galjaard R, Jiang Y, Benton C, Rommens J, Beaudet A. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genetics 1997, 15: 74-77. PMID: 8988172, DOI: 10.1038/ng0197-74.Peer-Reviewed Original ResearchConceptsGene productsAngelman syndromeNovo truncating mutationsUbiquitin protein ligase geneUbiquitin-dependent proteolytic pathwayE6-AP ubiquitin-protein ligaseHuman genetic disordersUbiquitin-protein ligaseUBE3A geneTruncating mutationsEvidence of expressionUnlikely candidate geneGenetic disordersLigase geneParental allelesAS genesHuman chromosomesPaternal uniparental disomyCandidate genesDe novo truncating mutationsProteolytic pathwayNovo nonsense mutationGenesIntragenic mutationsMolecular defects