[CITATION][C] Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
TH Vu, AR Hoffman - Nature genetics, 1997 - nature.com
TH Vu, AR Hoffman
Nature genetics, 1997•nature.com(UBE3A) transfers ubiquitin to protein substrates in the ubiquitin-proteosome proteolytic
pathway1• Loss of enzyme function due to truncating mutations in the coding region of the
gene2• 3 was found in patients with Angelman syndrome (AS). AS is characterized by
severe mental retardation, which is frequently associated with deletion of maternal
chromosome 15qll-13, suggesting that the AS gene is paternally imprinted4• 5• Although
UBE3A was identified as the AS gene2• 3, its expression is bi-
pathway1• Loss of enzyme function due to truncating mutations in the coding region of the
gene2• 3 was found in patients with Angelman syndrome (AS). AS is characterized by
severe mental retardation, which is frequently associated with deletion of maternal
chromosome 15qll-13, suggesting that the AS gene is paternally imprinted4• 5• Although
UBE3A was identified as the AS gene2• 3, its expression is bi-
(UBE3A) transfers ubiquitin to protein substrates in the ubiquitin-proteosome proteolytic pathway1• Loss of enzyme function due to truncating mutations in the coding region of the gene2• 3 was found in patients with Angelman syndrome (AS). AS is characterized by severe mental retardation, which is frequently associated with deletion of maternal chromosome 15qll-13, suggesting that the AS gene is paternally imprinted4• 5• Although UBE3A was identified as the AS gene2• 3, its expression is bi-
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