The Angelman syndrome candidate gene, UBE3AIE6-AP, is imprinted in brain

UBE3A/E6-AP mutations cause Angelman syndrome

Kishino, T., Lalande, M., & Wagstaff, J. E. (1997) · Nature Genetics · doi:10.1038/ng0197-70 · Cited by 1,304 · see citing works

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

Matsuura, T., Sutcliffe, J. S., Fang, P., Galjaard, R. H., Jiang, Y., Benton, C. S., Rommens, J. M., & Beaudet, A. L. (1997) · Nature Genetics · doi:10.1038/ng0197-74 · Cited by 858 · see citing works

Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post- synaptic membrane

Puccio, H. M. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.4.489 · Cited by 130 · see citing works

The HumanE6-APGene (UBE3A) Encodes Three Potential Protein Isoforms Generated by Differential Splicing

Yamamoto, Y., Huibregtse, J. M., & Howley, P. M. (1997) · Genomics · doi:10.1006/geno.1997.4617 · Cited by 128 · see citing works

Imprinting analysis of three genes in the Prader — Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E)

Nakao, M., Sutcliffe, J. S., Durtschl, B., Mutlrangura, A., Ledbetter, D. H., & Beaudet, A. L. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.2.309 · Cited by 122 · see citing works

Puppet‐like syndrome of Angelman: A pathologic and neurochemical study

Jay, V., Becker, L. E., Chan, F.-W., & Perry, T. L. (1991) · Neurology · doi:10.1212/wnl.41.3.416 · Cited by 109 · see citing works

Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

Greger, V., Knoll, J. H. M., Wagstaff, J. D., et al. (1997) · PubMed · Cited by 28 · see citing works

Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation

Jiang, Y.-H., Armstrong, D., Albrecht, U., Atkins, C. M., Noebels, J. L., Eichele, G., Sweatt, J. D., & Beaudet, A. L. (1998) · Neuron · doi:10.1016/s0896-6273(00)80596-6 · Cited by 852 · see citing works

Rhythms of life: circadian disruption and brain disorders across the lifespan

Logan, R. W., & McClung, C. A. (2019) · Nature Reviews Neuroscience · doi:10.1038/s41583-018-0088-y · Cited by 713 · see citing works

Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons

Huang, H.-S., Allen, J. A., Mabb, A. M., King, I. F., Miriyala, J., Taylor-Blake, B., Sciaky, N., Dutton, J. W., Lee, H.-M., Chen, X., et al. (2012) · Nature · doi:10.1038/nature10726 · Cited by 387 · see citing works

Ube3a is required for experience-dependent maturation of the neocortex

Yashiro, K., Riday, T. T., Condon, K. H., Roberts, A. C., Bernardo, D. R., Prakash, R., Weinberg, R. J., Ehlers, M. D., & Philpot, B. D. (2009) · Nature Neuroscience · doi:10.1038/nn.2327 · Cited by 328 · see citing works

Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes

Chamberlain, S. J., Chen, P.-F., Ng, K. Y., Bourgois-Rocha, F., Lemtiri-Chlieh, F., Levine, E. S., & Lalande, M. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1004487107 · Cited by 312 · see citing works

A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader–Willi syndrome critical region

Jong, M. T. C., Gray, T. A., Ji, Y., Glenn, C. C., Saitoh, S., Driscoll, D. J., & Nicholls, R. D. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.5.783 · Cited by 230 · see citing works

Maternal Loss of Ube3a Produces an Excitatory/Inhibitory Imbalance through Neuron Type-Specific Synaptic Defects

Wallace, M. L., Burette, A. C., Weinberg, R. J., & Philpot, B. D. (2012) · Neuron · doi:10.1016/j.neuron.2012.03.036 · Cited by 196 · see citing works

Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a

Meng, L., Person, R. E., & Beaudet, A. L. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds130 · Cited by 202 · see citing works

An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A

Yi, J. J., Berrios, J., Newbern, J. M., Snider, W. D., Philpot, B. D., Hahn, K. M., & Zylka, M. J. (2015) · Cell · doi:10.1016/j.cell.2015.06.045 · Cited by 177 · see citing works

Prader-Willi syndrome: Intellectual abilities and behavioural features by genetic subtype

Milner, K. M., Craig, E. E., Thompson, R. J., Veltman, M. W. M., Simon Thomas, N., Roberts, S., Bellamy, M., Curran, S. R., Sporikou, C. M. J., & Bolton, P. F. (2005) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2005.01520.x · Cited by 177 · see citing works

The spectrum of mutations in UBE3A causing Angelman syndrome

Fang, P. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.1.129 · Cited by 159 · see citing works

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for <i>UBE3A</i>

Jiang, Y., Sahoo, T., Michaelis, R. C., Bercovich, D., Bressler, J., Kashork, C. D., Liu, Q., Shaffer, L. G., Schroer, R. J., Stockton, D. W., et al. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30297 · Cited by 159 · see citing works

Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications

Herzing, L. B. K. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.15.1707 · Cited by 109 · see citing works

Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin–proteasome pathway processes

Baron, C. A., Tepper, C. G., Liu, S. Y., Davis, R. R., Wang, N. J., Schanen, N. C., & Gregg, J. P. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl004 · Cited by 80 · see citing works

Loss of dopaminergic neurons and resulting behavioural deficits in mouse model of Angelman syndrome

Mulherkar, S. A., & Jana, N. R. (2010) · Neurobiology of Disease · doi:10.1016/j.nbd.2010.08.002 · Cited by 71 · see citing works

Imprinted expression of UBE3A in non-neuronal cells from a Prader–Willi syndrome patient with an atypical deletion

Martins-Taylor, K., Hsiao, J. S., Chen, P.-F., Glatt-Deeley, H., De Smith, A. J., Blakemore, A. I. F., Lalande, M., & Chamberlain, S. J. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddt628 · Cited by 66 · see citing works

Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism

Ferdousy, F., Bodeen, W., Summers, K., Doherty, O., Wright, O., Elsisi, N., Hilliard, G., O'Donnell, J. M., & Reiter, L. T. (2011) · Neurobiology of Disease · doi:10.1016/j.nbd.2010.12.001 · Cited by 43 · see citing works

Dynamic shift in localization of UBE3A across developmental stages in an Angelman syndrome mouse model

Gupta, P. K., Feuermann, Y., & Kaphzan, H. (2025) · Neurobiology of Disease · doi:10.1016/j.nbd.2025.106912 · Cited by 5 · see citing works

Development of an ASO therapy for Angelman syndrome by targeting an evolutionarily conserved region at the start of the UBE3A-AS transcriptPreprint

Dindot, S. V., Christian, S., Murphy, W. J., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.07.27.453820 · Cited by 2 · see citing works

Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndromePreprint

Lee, D., Chen, W., Kaku, H. N., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.06.18.496687 · Cited by 3 · see citing works

Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome

Lee, D., Chen, W., Kaku, H. N., Zhuo, X., Chao, E. S., Soriano, A., Kuncheria, A., Flores, S., Kim, J. H., Rivera, A. M., et al. (2023) · eLife · doi:10.7554/elife.81892 · Cited by 36 · see citing works

Genetic Imprinting: The Paradigm of Prader-Willi and Angelman Syndromes

Gurrieri, F., & Accadia, M. (2009) · Endocrine development · doi:10.1159/000207473 · Cited by 42 · see citing works

Identification of Novel Imprinted Transcripts in the Prader-Willi Syndrome and Angelman Syndrome Deletion Region: Further Evidence for Regional Imprinting Control

Lee, S., & Wevrick, R. (2000) · The American Journal of Human Genetics · doi:10.1086/302817 · Cited by 50 · see citing works