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NATURE GENETICS, ISSN 1061-4036, 06/2008, Volume 40, Issue 6, pp. 719 - 721
Prader-Willi syndrome (PWS) is caused by deficiency for one or more paternally expressed imprinted transcripts within chromosome 15q11-q13, including... 
EXCLUSION | SNRPN | GENE | TRANSLOCATION BREAKPOINT | HBII-52 | GENETICS & HEREDITY | UBE3A | DELETION | REGION
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 12/2019, Volume 132, pp. 104585 - 104585
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal mutation and paternal imprinting of the gene encoding UBE3A, an E3 ubiquitin... 
SILAM | Proteome | Angelman syndrome | UBE3A | autophagy | HAP1 | Index Medicus
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 08/2015, Volume 112, Issue 32, pp. 9872 - 9877
Journal Article
Nature Neuroscience, ISSN 1097-6256, 01/2007, Volume 10, Issue 3, pp. 280 - 282
textabstractAngelman Syndrome (AS) is a severe neurological disorder characterized by mental retardation, motor dysfunction and epilepsy. We now show that the... 
GENE | HIPPOCAMPAL | UBE3A | MUTATIONS | AUTOPHOSPHORYLATION | NEUROSCIENCES | PROTEIN-KINASE-II | LIGASE | PLASTICITY | DELETION
Journal Article
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 2018, Volume 293, Issue 47, pp. 18400 - 18401
Loss-of-function mutations in the UBE3A ubiquitin ligase are associated with Angelman syndrome (AS), a severe neurologic disorder. A new study defines the role... 
UBE3A | AUTISM | MUTATIONS | BINDING | UBIQUITIN-PROTEIN LIGASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | Index Medicus | Editors' Picks Highlights
Journal Article