Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons

Parental imprinting of the mouse insulin-like growth factor II gene

Thomas M. DeChiara, Elizabeth J. Robertson, Argiris Efstratiadis · Cell · 1991 · 1.8K citations

Knockout Mouse, Developmental Biology, Growth Hormone +7

UBE3A/E6-AP mutations cause Angelman syndrome

Tatsuya Kishino, Marc Lalande, Joseph Wagstaff · Nature Genetics · 1997 · 1.3K citations

Mendelian Disorder, Genetic Disorder, Angelman Syndrome +6

Protein ubiquitination involving an E1–E2–E3 enzyme ubiquitin thioester cascade

Martin Scheffner, Ulrike A. Nuber, Jon M. Huibregtse · Nature · 1995 · 1K citations

Protein Chemistry, Protein Function, Biochemistry +5

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

Toshinobu Matsuura, James S. Sutcliffe, Ping Fang et al. · Nature Genetics · 1997 · 868 citations

Mendelian Disorder, Genetic Disorder, Angelman Syndrome +7

Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15

Karin Buiting, Shinji Saitoh, Bärbel Dittrich et al. · Nature Genetics · 1995 · 598 citations

Developmental Biology, Genetic Disorder, Developmental Genetics +8