Genomic imprinting is a reversible phenomenon that affects the expression of genes depending on their parental origin, The best characterized human disorders resulting from an alteration Of the imprinting process are ...

El presente trabajo de investigación se realiza en la UBE de servicios técnico y personales Moa debido a la necesidad de contar con un material que le proporciona las técnicas y métodos necesarios para efectuar un análisis ...

Abstract Background More than 50 mutations in the UBE3A gene (E6-AP ubiquitin protein ligase gene) have been found in Angelman syndrome patients with no deletion, no uniparental ...

Abstract Background More than 50 mutations in the UBE3A gene (E6-AP ubiquitin protein ligase gene) have been found in Angelman syndrome patients with no deletion, no uniparental ...

Background More than 50 mutations in the UBE3A gene (E6-AP ubiquitin protein ligase gene) have been found in Angelman syndrome patients with no deletion, no uniparental disomy, and no imprinting defect. Case Presentation We ...

The modification of proteins with ubiquitin is a critical event that determines the fate of many proteins in the cell. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ...