Ube3a Imprinting Impairs Circadian Robustness in Angelman Syndrome Models

Shi, Shu-qun; Bichell, Terry Jo; Ihrie, Rebecca A.; Johnson, Carl Hirschie

doi:10.1016/j.cub.2014.12.047

Cited by 84Circadian rhythm and melatoninGenetic Syndromes and ImprintingSleep and Wakefulness Research

Ube3a Imprinting Impairs Circadian Robustness in Angelman Syndrome Models

Open access

Shi, Shu-qun, Bichell, Terry Jo, Ihrie, Rebecca A., Johnson, Carl Hirschie·2015·Current Biology

DOI 10.1016/j.cub.2014.12.047PMC PMC4348236

Open this paper in CoChat — free account Open PDF

Abstract

Background The paternal allele of Ube3a is silenced by imprinting in neurons, and Angelman syndrome (AS) is a disorder arising from a deletion or mutation of the maternal Ube3a allele, which thereby eliminates Ube3a neuronal expression. Sleep disorders such as short sleep duration and increased sleep onset latency are very common in AS.Results We found a unique link between neuronal imprinting of Ube3a and circadian rhythms in two mouse models of AS, including enfeebled circadian activity behavior and slowed molecular rhythms in ex vivo brain tissues. As a consequence of compromised circadian behavior, metabolic homeostasis is also disrupted in AS mice. Unsilencing the paternal Ube3a allele restores functional circadian periodicity in neurons deficient in maternal Ube3a but does not affect periodicity in peripheral tissues that are not imprinted for uniparental Ube3a expression. The ubiquitin ligase encoded by Ube3a interacts with the central clock components BMAL1 and BMAL2. Moreover, inactivation of Ube3a expression elevates BMAL1 levels in brain regions that control circadian behavior of AS-model mice, indicating an important role for Ube3a in modulating BMAL1 turnover.Conclusions Ube3a expression constitutes a direct mechanistic connection between symptoms of a human neurological disorder and the central circadian clock mechanism. The lengthened circadian period leads to delayed phase, which could explain the short sleep duration and increased sleep onset latency of AS subjects. Moreover, we report the pharmacological rescue of an AS phenotype, in this case, altered circadian period. These findings reveal potential treatments for sleep disorders in AS patients.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1016/j.cub.2014.12.047

Cites

73 of 73 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

In mice with maternal loss of Ube3a, period lengthening of locomotor rhythms and molecular rhythms in the brain are dependent on core clock factors, including CLOCK and BMAL1.
“In mice with maternal loss of Ube3a, period lengthening of locomotor rhythms and molecular rhythms in the brain are dependent on core clock factors, including CLOCK and BMAL1 (reF.127).”
From Rhythms of life: circadian disruption and brain disorders across the lifespan (2019) · cites this paper as [127]
Activation of the epigenetically silenced paternal Ube3a allele restores neuronal circadian function, suggesting that targeting the locus may be useful for treatment and involve molecular-clock-dependent mechanisms.
“Intriguingly, activation of the epigenetically silenced paternal Ube3a allele restores neuronal circadian function127, suggesting that targeting the locus may be useful for treatment and involve molecular-clock-dependent mechanisms.”
From Rhythms of life: circadian disruption and brain disorders across the lifespan (2019) · cites this paper as [127]

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Coordination of circadian timing in mammals
Reppert, S. M., & Weaver, D. R. (2002) · Nature · doi:10.1038/nature00965 · Cited by 4,379 · see citing works
Molecular Bases for Circadian Clocks
Dunlap, J. C. (1999) · Cell · doi:10.1016/s0092-8674(00)80566-8 · Cited by 2,900 · see citing works
PERIOD2::LUCIFERASE real-time reporting of circadian dynamics reveals persistent circadian oscillations in mouse peripheral tissues
Yoo, S.-H., Yamazaki, S., Lowrey, P. L., Shimomura, K., Ko, C. H., Buhr, E. D., Siepka, S. M., Hong, H.-K., Oh, W. J., Yoo, O. J., et al. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0308709101 · Cited by 2,329 · see citing works
The Orphan Nuclear Receptor REV-ERBα Controls Circadian Transcription within the Positive Limb of the Mammalian Circadian Oscillator
Preitner, N., Damiola, F., Luis-Lopez-Molina, Zakany, J., Duboule, D., Albrecht, U., & Schibler, U. (2002) · Cell · doi:10.1016/s0092-8674(02)00825-5 · Cited by 2,198 · see citing works
Role of the CLOCK Protein in the Mammalian Circadian Mechanism
Gekakis, N., Staknis, D., Nguyen, H. B., Davis, F. C., Wilsbacher, L. D., King, D. P., Takahashi, J. S., & Weitz, C. J. (1998) · Science · doi:10.1126/science.280.5369.1564 · Cited by 1,997 · see citing works
Resetting central and peripheral circadian oscillators in transgenic rats
Yamazaki, S., Numano, R., Abe, M., Hida, A., Takahashi, R.-I., Ueda, M., Block, G. D., Sakaki, Y., Menaker, M., & Tei, H. (2000) · Science · doi:10.1126/science.288.5466.682 · Cited by 1,907 · see citing works
mCRY1 and mCRY2 are essential components of the negative limb of the circadian clock feedback loop
Kume, K., Zylka, M. J., Sriram, S., Shearman, L. P., Weaver, D. R., Jin, X., Maywood, E. S., Hastings, M. H., & Reppert, S. M. (1999) · Cell · doi:10.1016/s0092-8674(00)81014-4 · Cited by 1,617 · see citing works
Disruption of the clock components CLOCK and BMAL1 leads to hypoinsulinaemia and diabetes
Marcheva, B., Ramsey, K. M., Buhr, E. D., Kobayashi, Y., Su, H., Ko, C. H., Ivanova, G., Omura, C., Mo, S., Vitaterna, M. H., et al. (2010) · Nature · doi:10.1038/nature09253 · Cited by 1,525 · see citing works
Prader-Willi syndrome
Cassidy, S. B., Schwartz, S., Miller, J. L., & Driscoll, D. J. (2012) · Genetics in Medicine · doi:10.1038/gim.0b013e31822bead0 · Cited by 1,452 · see citing works
Suprachiasmatic Nucleus: Cell Autonomy and Network Properties
Welsh, D. K., Takahashi, J. S., & Kay, S. A. (2010) · Annual Review of Physiology · doi:10.1146/annurev-physiol-021909-135919 · Cited by 1,216 · see citing works
Feedback of the Drosophila period gene product on circadian cycling of its messenger RNA levels
Hardin, P. E., Hall, J. C., & Rosbash, M. (1990) · Nature · doi:10.1038/343536a0 · Cited by 1,156 · 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
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
The basic-helix–loop–helix-PAS orphan MOP3 forms transcriptionally active complexes with circadian and hypoxia factors
Hogenesch, J. B., Gu, Y.-Z., Jain, S. R., & Bradfield, C. A. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.10.5474 · Cited by 781 · see citing works
Angelman syndrome 2005: Updated consensus for diagnostic criteria
Williams, C. A., Beaudet, A. L., Clayton‐Smith, J., Knoll, J. H. M., Kyllerman, M., Laan, L., Magenis, R. E., Moncla, A., Schinzel, A., Summers, J., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31074 · Cited by 626 · see citing works
Crosstalk between components of circadian and metabolic cycles in mammals
Asher, G., & Schibler, U. (2011) · Cell Metabolism · doi:10.1016/j.cmet.2011.01.006 · Cited by 601 · see citing works
Prader–Willi syndrome
Cassidy, S. B., & Driscoll, D. J. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.165 · Cited by 593 · see citing works
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
Albrecht, U., Sutcliffe, J. S., Cattanach, B. M., BEECHEY, C. V., Armstrong, D. L., Gregor Eichele, C., & Beaudet, A. L. (1997) · Nature Genetics · doi:10.1038/ng0997-75 · Cited by 586 · see citing works
Association of intrinsic circadian period with morningness–eveningness, usual wake time, and circadian phase.
Duffy, J. F., Rimmer, D. W., & Czeisler, C. A. (2001) · Behavioral Neuroscience · doi:10.1037/0735-7044.115.4.895 · Cited by 571 · see citing works
Circadian Mutant Overtime Reveals F-box Protein FBXL3 Regulation of Cryptochrome and Period Gene Expression
Siepka, S. M., Yoo, S. H., Park, J., Song, W., Kumar, V., Hu, Y., Lee, C., & Takahashi, J. S. (2007) · Cell · doi:10.1016/j.cell.2007.04.030 · Cited by 536 · see citing works
SCF Fbxl3 Controls the Oscillation of the Circadian Clock by Directing the Degradation of Cryptochrome Proteins
Busino, L., Bassermann, F. C., Maiolica, A., Lee, C., Nolan, P. M., Godinho, S. I. H., Draetta, G. F., & Pagano, M. (2007) · Science · doi:10.1126/science.1141194 · Cited by 509 · see citing works
CLOCK and NPAS2 have overlapping roles in the suprachiasmatic circadian clock
DeBruyne, J. P., Weaver, D. R., & Reppert, S. M. (2007) · Nature Neuroscience · doi:10.1038/nn1884 · Cited by 484 · see citing works
The After-Hours Mutant Reveals a Role for Fbxl3 in Determining Mammalian Circadian Period
Godinho, S. I. H., Maywood, E. S., Shaw, L. E., Tucci, V., Barnard, A. R., Busino, L., Pagano, M., Kendall, R., Quwailid, M. M., Romero, M. R., et al. (2007) · Science · doi:10.1126/science.1141138 · Cited by 468 · see citing works
Circadian Disruption Leads to Insulin Resistance and Obesity
Shi, S.-Q., Ansari, T. S., McGuinness, O. P., Wasserman, D. H., & Johnson, C. H. (2013) · Current Biology · doi:10.1016/j.cub.2013.01.048 · Cited by 452 · see citing works
Self-citation
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
Dindot, S. V., Antalffy, B. A., Bhattacharjee, M. B., & Beaudet, A. L. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm288 · Cited by 418 · see citing works
Redundant Function of REV-ERBα and β and Non-Essential Role for Bmal1 Cycling in Transcriptional Regulation of Intracellular Circadian Rhythms
Liu, A. C., Tran, H. G., Zhang, E. E., Priest, A. A., Welsh, D. K., & Kay, S. A. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000023 · Cited by 396 · 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
Entrainment of Circadian Programs
Johnson, C. H., Elliott, J. A., & Foster, F. (2003) · Chronobiology International · doi:10.1081/cbi-120024211 · Cited by 380 · see citing works
Self-citation
Competing E3 Ubiquitin Ligases Govern Circadian Periodicity by Degradation of CRY in Nucleus and Cytoplasm
Yoo, S. H., Mohawk, J. A., Siepka, S. M., Shan, Y., Huh, S. K., Hong, H., Kornblum, I., Kumar, V., Koike, N., Xu, M., et al. (2013) · Cell · doi:10.1016/j.cell.2013.01.055 · Cited by 341 · see citing works
Regulation of BMAL1 Protein Stability and Circadian Function by GSK3β-Mediated Phosphorylation
Sahar, S., Zocchi, L., Kinoshita, C., Borrelli, E., & Sassone‐Corsi, P. (2009) · PLoS ONE · doi:10.1371/journal.pone.0008561 · Cited by 291 · see citing works
Chronotherapeutics (light and wake therapy) in affective disorders
WIRZ-JUSTICE, A., BENEDETTI, F., BERGER, M., LAM, R. W., MARTINY, K., TERMAN, M., & WU, J. C. (2005) · Psychological Medicine · doi:10.1017/s003329170500437x · Cited by 291 · see citing works
FBXL21 Regulates Oscillation of the Circadian Clock through Ubiquitination and Stabilization of Cryptochromes
Hirano, A., Yumimoto, K., Tsunematsu, R., Matsumoto, M., Oyama, M., Kozuka‐Hata, H., Nakagawa, T., Lanjakornsiripan, D., Nakayama, K. I., & Fukada, Y. (2013) · Cell · doi:10.1016/j.cell.2013.01.054 · Cited by 274 · see citing works
Molecular insights into human daily behavior
Brown, S. A., Kunz, D., Dumas, A., Westermark, P. O., Vanselow, K., Tilmann-Wahnschaffe, A., Herzel, H., & Kramer, A. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707772105 · Cited by 270 · see citing works
A Role for the Proteasome in the Light Response of the Timeless Clock Protein
Naidoo, N. N., Song, W., Hunter-Ensor, M., & Sehgal, A. (1999) · Science · doi:10.1126/science.285.5434.1737 · Cited by 269 · see citing works
Increased Gene Dosage of <i>Ube3a</i> Results in Autism Traits and Decreased Glutamate Synaptic Transmission in Mice
Smith, S. E. P., Zhou, Y.-D., Zhang, G., Jin, Z., Stoppel, D. C., & Anderson, M. P. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002627 · Cited by 267 · see citing works
Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome
Weeber, E. J., Jiang, Y., Elgersma, Y., Varga, A. W., Carrasquillo, Y., Brown, S. E., Christian, J. M., Mirnikjoo, B., Silva, A. J., Beaudet, A. L., et al. (2003) · Journal of Neuroscience · doi:10.1523/jneurosci.23-07-02634.2003 · Cited by 262 · see citing works
Detrimental effects of constant light exposure and high-fat diet on circadian energy metabolism and insulin sensitivity
Coomans, C. P., van den Berg, S. A. A., Houben, T., van Klinken, J., van den Berg, R., Pronk, A. C. M., Havekes, L. M., Romijn, J. A., van Dijk, K. W., Biermasz, N. R., et al. (2013) · The FASEB Journal · doi:10.1096/fj.12-210898 · Cited by 252 · see citing works
The imprinted gene Magel2 regulates normal circadian output
Козлов, С. В., Bogenpohl, J. W., Howell, M. P., Wevrick, R., Panda, S., Hogenesch, J. B., Muglia, L. J., Gelder, R. N. V., Herzog, E. D., & Stewart, C. L. (2007) · Nature Genetics · doi:10.1038/ng2114 · Cited by 231 · see citing works
The ubiquitin proteasome system in neuropathology
Lehman, N. L. (2009) · Acta Neuropathologica · doi:10.1007/s00401-009-0560-x · Cited by 206 · see citing works
Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3
Jiang, Y., Pan, Y., Zhu, L., Landa, L., Yoo, J. W., Spencer, C. M., Lorenzo, I., Brilliant, M. H., Noebels, J. L., & Beaudet, A. L. (2010) · PLoS ONE · doi:10.1371/journal.pone.0012278 · Cited by 172 · see citing works
Chronotherapeutics for Affective Disorders: A Clinician's Manual for Light and Wake Therapy
Wirz‐Justice, A., Benedetti, F., & Terman, M. (2009) · Cited by 168 · see citing works
Differential regulation of mPER1 and mTIM proteins in the mouse suprachiasmatic nuclei: new insights into a core clock mechanism
Hastings, M. H., Field, M. D., Maywood, E. S., Weaver, D. R., & Reppert, S. M. (1999) · The Journal of Neuroscience · doi:10.1523/jneurosci.19-12-j0001.1999 · Cited by 166 · see citing works
Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model
Meng, L., Person, R., Huang, W., Zhu, P., Costa‐Mattioli, M., & Beaudet, A. L. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1004039 · Cited by 165 · see citing works
Circadian Clock Gene Bmal1 Is Not Essential; Functional Replacement with its Paralog, Bmal2
Shi, S.-Q., Hida, A., McGuinness, O. P., Wasserman, D. H., Yamazaki, S., & Johnson, C. H. (2010) · Current Biology · doi:10.1016/j.cub.2009.12.034 · Cited by 150 · see citing works
Self-citation
Behavioral deficits in an Angelman syndrome model: Effects of genetic background and age
Huang, H., Burns, A. J., Nonneman, R. J., Baker, L. K., Riddick, N. V., Nikolova, V. D., Riday, T. T., Yashiro, K., Philpot, B. D., & Moy, S. S. (2013) · Behavioural Brain Research · doi:10.1016/j.bbr.2012.12.052 · Cited by 141 · see citing works
Allelic specificity of Ube3a Expression In The Mouse Brain During Postnatal Development
Judson, M. C., Sosa‐Pagan, J. O., Cid, W. A. D., Han, J. E., & Philpot, B. D. (2013) · The Journal of Comparative Neurology · doi:10.1002/cne.23507 · Cited by 138 · see citing works
Consequences of Exposure to Light at Night on the Pancreatic Islet Circadian Clock and Function in Rats
Qian, J., Block, G. D., Colwell, C. S., & Matveyenko, A. V. (2013) · Diabetes · doi:10.2337/db12-1543 · Cited by 138 · see citing works
Angelman syndrome: Mutations influence features in early childhood
Tan, W., Bacino, C. A., Skinner, S. A., Anselm, I. A., Barbieri‐Welge, R. L., Bauer‐Carlin, A., Beaudet, A. L., Bichell, T. J., Gentile, J. K., Glaze, D. G., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33775 · Cited by 127 · see citing works
Self-citation
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
The E6–AP Ubiquitin–Protein Ligase (UBE3A) Gene Is Localized within a Narrowed Angelman Syndrome Critical RegionPreprint
Sutcliffe, J. S., Jiang, Y., Galjaard, R. H., Matsuura, T., Fang, P., Kubota, T., Christian, S. L., Bressler, J., Cattanach, B. M., Ledbetter, D. H., et al. (1997) · Genome Research · doi:10.1101/gr.7.4.368 · Cited by 118 · see citing works
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
Smith, A., Wiles, C., Haan, E., McGill, J., Wallace, G., Dixon, J. W., Selby, R., Colley, A., Marks, R., & Trent, R. J. (1996) · Journal of Medical Genetics · doi:10.1136/jmg.33.2.107 · Cited by 114 · see citing works
Sleep in children and adolescents with Angelman syndrome: association with parent sleep and stress
Goldman, S. E., Bichell, T. J., Surdyka, K., & Malow, B. A. (2011) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2011.01499.x · Cited by 110 · see citing works
Self-citation
The Metabolic Phenotype of Prader-Willi Syndrome (PWS) in Childhood: Heightened Insulin Sensitivity Relative to Body Mass Index
Haqq, A. M., Muehlbauer, M. J., Newgard, C. B., Grambow, S. C., & Freemark, M. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-1733 · Cited by 108 · see citing works
The E3 ubiquitin ligase UBE3A is an integral component of the molecular circadian clock through regulating the BMAL1 transcription factor
Gossan, N. C., Zhang, F., Guo, B., Jin, D., Yoshitane, H., Yao, A., Glossop, N., Zhang, Y. Q., Fukada, Y., & Meng, Q.-J. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku225 · Cited by 106 · see citing works
Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome
Gustin, R. M., Bichell, T. J., Bubser, M., Daily, J., Filonova, I., Mrelashvili, D., Deutch, A. Y., Colbran, R. J., Weeber, E. J., & Haas, K. F. (2010) · Neurobiology of Disease · doi:10.1016/j.nbd.2010.04.012 · Cited by 105 · see citing works
Self-citation
A Drosophila model for Angelman syndrome
Wu, Y., Bolduc, F. V., Bell, K., Tully, T., Fang, Y., Sehgal, A., & Fischer, J. A. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0805291105 · Cited by 100 · see citing works
Are there distinctive sleep problems in Angelman syndrome?
Pelc, K., Cheron, G. A., Boyd, S. G., & Dan, B. (2007) · Sleep Medicine · doi:10.1016/j.sleep.2007.07.001 · Cited by 96 · see citing works
Human Chronotypes from a Theoretical Perspective
Granada, A. E., Bordyugov, G., Kramer, A., & Herzel, H. (2013) · PLoS ONE · doi:10.1371/journal.pone.0059464 · Cited by 92 · see citing works
Nuclear Receptors, Metabolism, and the Circadian ClockPreprint
Yang, X., Lamia, K. A., & Evans, R. M. (2007) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2007.72.058 · Cited by 87 · see citing works
Sleep disturbances in Ube3a maternal-deficient mice modeling Angelman syndrome
Colas, D., Wagstaff, J. E., Fort, P., Salvert, D., & Sarda, N. (2005) · Neurobiology of Disease · doi:10.1016/j.nbd.2005.04.003 · Cited by 85 · see citing works
The endogenous circadian temperature period length (tau) in delayed sleep phase disorder compared to good sleepers
Micic, G., de Bruyn, A., Lovato, N., Wright, H., Gradisar, M., Ferguson, S., Burgess, H. J., & Lack, L. (2013) · Journal of Sleep Research · doi:10.1111/jsr.12072 · Cited by 76 · see citing works
Angelman syndrome: a review of clinical and genetic aspects
Laan, L., van Haeringen, A., & Brouwer, O. F. (1999) · Clinical Neurology and Neurosurgery · doi:10.1016/s0303-8467(99)00030-x · Cited by 75 · see citing works
The 'happy puppet' syndrome of Angelman: review of the clinical features.
Robb, S. A., Pohl, K., Baraitser, M., Wilson, J., & Brett, E. M. (1989) · Archives of Disease in Childhood · doi:10.1136/adc.64.1.83 · Cited by 71 · see citing works
Degradation of the Neurospora circadian clock protein FREQUENCY through the ubiquitin–proteasome pathway
He, Q., & Liu, Y. (2005) · Biochemical Society Transactions · doi:10.1042/bst20050953 · Cited by 70 · see citing works
Melatonin profile and its relation to circadian rhythm sleep disorders in Angelman syndrome patients
Takaesu, Y., Komada, Y., & Inoue, Y. (2012) · Sleep Medicine · doi:10.1016/j.sleep.2012.06.015 · Cited by 69 · see citing works
Dynamic Circadian Protein–Protein Interaction Networks Predict Temporal Organization of Cellular Functions
Wallach, T. E., Schellenberg, K., Maier, B., Kalathur, R. K. R., Porras, P., Wanker, E. E., Futschik, M. E., & Kramer, A. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003398 · Cited by 55 · see citing works
Loss of Gnas Imprinting Differentially Affects REM/NREM Sleep and Cognition in Mice
Lassi, G., Ball, S. T., Maggi, S., Colonna, G., Nieus, T. R., Cero, C., Bartolomucci, A., Peters, J., & Tucci, V. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002706 · Cited by 53 · see citing works
In vitro circadian period is associated with circadian/sleep preference
Hida, A., Kitamura, S., Ohsawa, Y., Enomoto, M., Katayose, Y., Motomura, Y., Moriguchi, Y., Nozaki, K., Watanabe, M., Aritake, S., et al. (2013) · Scientific Reports · doi:10.1038/srep02074 · Cited by 51 · see citing works
The Circadian E-Box: When Perfect Is Not Good Enough
Muñoz, E. M., & Baler, R. (2003) · Chronobiology International · doi:10.1081/cbi-120022525 · Cited by 45 · see citing works
Recommendations for the investigation of animal models of Prader–Willi syndrome
Resnick, J. L., Nicholls, R. D., & Wevrick, R. (2013) · Mammalian Genome · doi:10.1007/s00335-013-9454-2 · Cited by 44 · see citing works
Chronotherapeutics for affective disorders: A clinician′s manual for light and wake therapy
Chakrabarti, S. (2014) · DOAJ (DOAJ: Directory of Open Access Journals) · Cited by 39 · see citing works
PKCγ participates in food entrainment by regulating BMAL1
Zhang, L., Abraham, D., Lin, S., Oster, H., Gregor Eichele, C., Fu, Y., & Ptáček, L. J. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1218699110 · Cited by 32 · see citing works
The neurobiology of mouse models syntenic to human chromosome 15q
Takumi, T. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9088-1 · Cited by 24 · see citing works

Flagged first, then by citations

1 of the 74 references couldn’t be matched to a known paper.

Sorted by citations

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
The mammalian circadian system: a hierarchical multi-oscillator structure for generating circadian rhythm
Honma, S. (2018) · The Journal of Physiological Sciences · doi:10.1007/s12576-018-0597-5 · Cited by 233 · see citing works
Epigenetic Regulation of UBE3A and Roles in Human Neurodevelopmental Disorders
LaSalle, J. M., Reiter, L. T., & Chamberlain, S. J. (2015) · Epigenomics · doi:10.2217/epi.15.70 · Cited by 128 · see citing works
CNV biology in neurodevelopmental disorders
Takumi, T., & Tamada, K. (2018) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2017.12.004 · Cited by 116 · see citing works
New Perspectives on Genomic Imprinting, an Essential and Multifaceted Mode of Epigenetic Control in the Developing and Adult Brain
Perez, J. D., Rubinstein, N. D., & Dulac, C. G. (2016) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-061010-113708 · Cited by 101 · see citing works
Maternal Ube3a Loss Disrupts Sleep Homeostasis But Leaves Circadian Rhythmicity Largely Intact
Ehlen, J. C., Jones, K. A., Pinckney, L., Gray, C. L., Burette, S., Weinberg, R. J., Evans, J. A., Brager, A. J., Zylka, M. J., Paul, K. N., et al. (2015) · Journal of Neuroscience · doi:10.1523/jneurosci.2194-15.2015 · Cited by 91 · see citing works
An overview of health issues and development in a large clinical cohort of children with Angelman syndrome
Heus, K. B., Mous, S. E., Radstaake, M., van Iperen‐Kolk, B. M., Navis, C., Rietman, A. B., ten Hoopen, L. W., Brooks, A. S., Elgersma, Y., Moll, H. A., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61382 · Cited by 95 · see citing works
UBE3A and Its Link With Autism
Vatsa, N., & Jana, N. R. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00448 · Cited by 87 · see citing works
Aberrant Proteostasis of BMAL1 Underlies Circadian Abnormalities in a Paradigmatic mTOR-opathy
Lipton, J. O., Boyle, L. M., Yuan, E. D., Hochstrasser, K. J., Chifamba, F. F., Nathan, A., Tsai, P. T., Davis, F. C., & Şahin, M. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.07.008 · Cited by 84 · see citing works
Neurodevelopmental Disorders Commonly Presenting with Sleep Disturbances
Shelton, A. R., & Malow, B. A. (2021) · Neurotherapeutics · doi:10.1007/s13311-020-00982-8 · Cited by 81 · see citing works
Angelman Syndrome: From Mouse Models to Therapy
Rotaru, D. C., Mientjes, E., & Elgersma, Y. (2020) · Neuroscience · doi:10.1016/j.neuroscience.2020.02.017 · Cited by 80 · see citing works
UBE3A: An E3 Ubiquitin Ligase With Genome-Wide Impact in Neurodevelopmental Disease
Lopez, S. J., Segal, D. J., & LaSalle, J. M. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00476 · Cited by 71 · see citing works
Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study
den Bakker, H., Sidorov, M. S., Fan, Z., Lee, D. J., Bird, L. M., Chu, C. J., & Philpot, B. D. (2018) · Molecular Autism · doi:10.1186/s13229-018-0214-8 · Cited by 67 · see citing works
Genomic Imprinting: A New Epigenetic Perspective of Sleep Regulation
Tucci, V. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1006004 · Cited by 48 · see citing works
Periodicity, repression, and the molecular architecture of the mammalian circadian clock
Rosensweig, C., & Green, C. B. (2018) · European Journal of Neuroscience · doi:10.1111/ejn.14254 · Cited by 46 · see citing works
The HECT E3 Ligase E6AP/UBE3A as a Therapeutic Target in Cancer and Neurological Disorders
Owais, A., Mishra, R. K., & Kiyokawa, H. (2020) · Cancers · doi:10.3390/cancers12082108 · Cited by 46 · see citing works
Sleep as a translationally-relevant endpoint in studies of autism spectrum disorder (ASD)
Missig, G., McDougle, C. J., & Carlezon, W. A. (2019) · Neuropsychopharmacology · doi:10.1038/s41386-019-0409-5 · Cited by 45 · see citing works
Role of genomic imprinting in mammalian development
Thamban, T., Agarwaal, V., & Khosla, S. (2020) · Journal of Biosciences · doi:10.1007/s12038-019-9984-1 · Cited by 43 · see citing works
Epigenetic mechanisms in diurnal cycles of metabolism and neurodevelopment
Powell, W. T., & LaSalle, J. M. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv234 · Cited by 35 · see citing works
Meta-analysis of transcriptomic datasets identifies genes enriched in the mammalian circadian pacemaker
Brown, L. A., Williams, J. A., Taylor, L., Thomson, R. J., Nolan, P. M., Foster, F., & Peirson, S. N. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx714 · Cited by 35 · see citing works
To Ub or not to Ub: Regulation of circadian clocks by ubiquitination and deubiquitination
Srikanta, S. B., & Cermakian, N. (2020) · Journal of Neurochemistry · doi:10.1111/jnc.15132 · Cited by 36 · see citing works
Ubiquitin-Proteasome System in Neurodegenerative Disorders
Croft, G. R. B. (2015) · Journal of Drug Metabolism & Toxicology · doi:10.4172/2157-7609.1000187 · Cited by 34 · see citing works
Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice
Jones, K. A., Han, J. E., DeBruyne, J. P., & Philpot, B. D. (2016) · Scientific Reports · doi:10.1038/srep28238 · Cited by 34 · see citing works
Dosage-sensitive genes in autism spectrum disorders: From neurobiology to therapy
Javed, S., Selliah, T., Lee, Y., & Huang, W. (2020) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2020.08.009 · Cited by 31 · see citing works
Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity
Liang, Z., Cimino, I., Yalcin, B., Raghupathy, N., Vancollie, V. E., Ibarra-Soria, X., Firth, H. V., Rimmington, D., Farooqi, I. S., Lelliott, C. J., et al. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008916 · Cited by 33 · see citing works
Sleep and Circadian Disturbances in Children With Neurodevelopmental Disorders
Tamir, S., Dye, T. J., & Witt, R. M. (2023) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2023.101090 · Cited by 26 · see citing works
Understanding Quantitative Circadian Regulations Are Crucial Towards Advancing Chronotherapy
Chowdhury, D., Wang, C., Lü, A., & Zhu, H. (2019) · Cells · doi:10.3390/cells8080883 · Cited by 24 · see citing works
Sleep/Wake Disruption in a Mouse Model of BLOC-1 Deficiency
Lee, F. Y., Wang, H. B., Hitchcock, O. N., Loh, D. H., Whittaker, D. S., Kim, Y.-S., Aiken, A. V., Kokikian, C., Dell’Angelica, E. C., Colwell, C. S., et al. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00759 · Cited by 23 · see citing works
Rescue of altered HDAC activity recovers behavioural abnormalities in a mouse model of Angelman syndrome
Jamal, I., Kumar, V., Vatsa, N., Shekhar, S., Singh, B. K., Sharma, A., & Jana, N. R. (2017) · Neurobiology of Disease · doi:10.1016/j.nbd.2017.05.010 · Cited by 21 · see citing works
Down-Regulation of miRNA-708 Promotes Aberrant Calcium Signaling by Targeting Neuronatin in a Mouse Model of Angelman Syndrome
Vatsa, N., Kumar, V., Singh, B. K., Kumar, R., Sharma, A., & Jana, N. R. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2019.00035 · Cited by 20 · see citing works
Mechanisms of sleep and circadian ontogeny through the lens of neurodevelopmental disorders
Barone, I., Hawks-Mayer, H., & Lipton, J. O. (2019) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2019.01.011 · Cited by 21 · see citing works
Angelman syndrome and melatonin: What can they teach us about sleep regulation
Buonfiglio, D. D. C., Hummer, D. L., Armstrong, A., Ehlen, J. C., & DeBruyne, J. P. (2020) · Journal of Pineal Research · doi:10.1111/jpi.12697 · Cited by 21 · see citing works
Management of sleep disorders in neurodevelopmental disorders and genetic syndromes
Heussler, H. (2016) · Current Opinion in Psychiatry · doi:10.1097/yco.0000000000000230 · Cited by 19 · see citing works
Multi-Method Assessment of Sleep in Children With Angelman Syndrome: A Case–Controlled Study
Trickett, J., Oliver, C., Heald, M., Denyer, H., Surtees, A. D. R., Clarkson, E., Gringras, P., & Richards, C. (2019) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2019.00874 · Cited by 18 · see citing works
Death of a Protein: The Role of E3 Ubiquitin Ligases in Circadian Rhythms of Mice and Flies
Abdalla, O. H. M. H., Mascarenhas, B., & Cheng, H. M. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms231810569 · Cited by 18 · see citing works
Simvastatin Restores HDAC1/2 Activity and Improves Behavioral Deficits in Angelman Syndrome Model Mouse
Kumar, V., Joshi, T., Vatsa, N., Singh, B. K., & Jana, N. R. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2019.00289 · Cited by 17 · see citing works
Adenosine A2A receptors format long-term depression and memory strategies in a mouse model of Angelman syndrome
Moreira-de-Sá, A., Gonçalves, F. Q., Lopes, J. P., Silva, H. B. L., Tomé, Â. R., Cunha, R. A., & Canas, P. M. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.105137 · Cited by 16 · see citing works
Sleep problems in children with Angelman Syndrome: The effect of a behavioral intervention program
Heus, K. B., Radstaake, M., Legerstee, J. S., ten Hoopen, L. W., Dieleman, G. C., Moll, H. A., Mous, S. E., & de Wit, M. Y. (2023) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2023.104444 · Cited by 16 · see citing works
Epigenetics of Circadian Rhythms in Imprinted Neurodevelopmental Disorders
Coulson, R. L., & LaSalle, J. M. (2018) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2017.11.023 · Cited by 15 · see citing works
Towards an understanding of Angelman syndrome in mice studies
Yang, X. (2019) · Journal of Neuroscience Research · doi:10.1002/jnr.24576 · Cited by 18 · see citing works
UBE3A: The Role in Autism Spectrum Disorders (ASDs) and a Potential Candidate for Biomarker Studies and Designing Therapeutic Strategies
Roy, B., Amemasor, E., Hussain, S., & Castro, K. (2023) · Diseases · doi:10.3390/diseases12010007 · Cited by 14 · see citing works
A clinical-translational review of sleep problems in neurodevelopmental disabilities
Peters, S. U., Shelton, A. R., Malow, B. A., & Neul, J. L. (2024) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-024-09559-4 · Cited by 14 · see citing works
UBE3A Suppresses Overnutrition‐Induced Expression of the Steatosis Target Genes of MLL4 by Degrading MLL4
Kim, J., Lee, B., Kim, D., Yeon, J. G., Lee, J., Park, Y., Yuna, L., Lee, S., Lee, S., & Lee, J. W. (2018) · Hepatology · doi:10.1002/hep.30284 · Cited by 14 · see citing works
Baby food and bedtime: Evidence for opposite phenotypes from different genetic and epigenetic alterations in Prader-Willi and Angelman syndromes
Salminen, I., Crespi, B. J., & Mökkönen, M. (2019) · SAGE Open Medicine · doi:10.1177/2050312118823585 · Cited by 13 · see citing works
Sleep-Wake Disorders in Childhood
Licis, A. (2020) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/con.0000000000000897 · Cited by 12 · see citing works
Circadian Rhythms and Sleep Are Dependent Upon Expression Levels of Key Ubiquitin Ligase Ube3a
Shi, S.-Q., Mahoney, C. E., Houdek, P., Zhao, W., Anderson, M. P., Zhuo, X., Beaudet, A. L., Sumová, A., Scammell, T. E., & Johnson, C. H. (2022) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2022.837523 · Cited by 14 · see citing works
Self-citation
Behavioral phenotyping of mice lacking the deubiquitinase USP2
Srikanta, S. B., Stojkovic, K., & Cermakian, N. (2021) · PLoS ONE · doi:10.1371/journal.pone.0241403 · Cited by 11 · see citing works
Sleep disturbance in Angelman syndrome patients
Qu, S., Wang, J., Guan, X., Song, C., & Wang, Y. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03154-5 · Cited by 9 · see citing works
A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition
Myers, L. S., Christian, S., Simpson, S. G., Sper, R. B., Taylor, C., Montes, L., Jepp, T., Ramos, D., Schuller, L., Konganti, K., et al. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2505152122 · Cited by 9 · see citing works
Deubiquitinases: key regulators of the circadian clock
Harris-Gauthier, N., Srikanta, S. B., & Cermakian, N. (2022) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00289.2022 · Cited by 8 · see citing works
The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome
Viho, E. M. G., Punt, A. M., Distel, B., Houtman, R., Kroon, J., Elgersma, Y., & Meijer, O. C. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms24010303 · Cited by 8 · see citing works
Circadian biology and sleep in monogenic neurological disorders and its potential application in drug discovery
Shi, S.-Q., & Johnson, C. H. (2018) · Current Opinion in Behavioral Sciences · doi:10.1016/j.cobeha.2018.06.006 · Cited by 8 · see citing works
Self-citation
Multiscale spatio-temporal dynamics of UBE3A gene in brain physiology and neurodevelopmental disorders
Biagioni, M., Baronchelli, F., & Fossati, M. (2024) · Neurobiology of Disease · doi:10.1016/j.nbd.2024.106669 · Cited by 7 · see citing works
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Ben‐Mahmoud, A., Kishikawa, S., Gupta, V. R., Leach, N. T., Shen, Y., Moldovan, O., Goel, H., Hopper, B., Ranguin, K., Gruchy, N., et al. (2023) · Scientific Reports · doi:10.1038/s41598-023-40037-4 · Cited by 5 · see citing works
Dissociating motor impairment from five-choice serial reaction time task performance in a mouse model of Angelman syndrome
Negrón-Moreno, P. N., Diep, D. T., Guoynes, C. D., & Sidorov, M. S. (2022) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2022.968159 · Cited by 5 · see citing works
Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome
Heus, K. B., Hagenaar, D. A., Dekker, I., van der Kaay, D. C. M., Kerkhof, G. F., Elgersma, Y., de Wit, M. Y., Mous, S. E., & Moll, H. A. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12185981 · Cited by 5 · see citing works
Imprinted Genes and Hypothalamic Function
Pulix, M., & Plagge, A. (2020) · Masterclass in neuroendocrinology · doi:10.1007/978-3-030-40002-6_10 · Cited by 4 · see citing works
Dysregulated CRMP Mediates Circadian Deficits in a Drosophila Model of Fragile X Syndrome
Zhao, J., Xue, J., Zhu, T., He, H., Kang, H., Jiang, X. J., Huang, W., & Duan, R. (2021) · Neuroscience Bulletin · doi:10.1007/s12264-021-00682-z · Cited by 4 · see citing works
Genomic imprinting and the control of sleep in mammals
Lassi, G., & Tucci, V. (2019) · Current Opinion in Behavioral Sciences · doi:10.1016/j.cobeha.2018.05.011 · Cited by 3 · see citing works
Slaap en verstandelijke beperking
Smits, A. (2020) · Bohn Stafleu van Loghum eBooks · doi:10.1007/978-90-368-2524-5_22 · Cited by 3 · see citing works
Sleep disorder in Angelman syndrome: causes, mechanisms and methods of correction. Literature review
Psyanchin, A. A., Bobylova, M. Y., & Yakupov, T. Z. (2022) · Russian Journal of Child Neurology · doi:10.17650/2073-8803-2022-17-3-55-62 · Cited by 3 · see citing works
Potential linkages between circadian rhythm and membrane lipids: timekeeper and bilayer
Güldür, T. (2022) · Biological Rhythm Research · doi:10.1080/09291016.2022.2096756 · Cited by 3 · see citing works
Cell Type-Specific Contributions of UBE3A to Angelman Syndrome Behavioral Phenotypes
Ringelberg, N. W., Mayfield, R. E., Lord, J. S., Diering, G. H., Burette, A. C., & Philpot, B. D. (2025) · eNeuro · doi:10.1523/eneuro.0453-24.2025 · Cited by 2 · see citing works
Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?
Valencia, M. L., Sofela, F. A., Jongens, T. A., & Sehgal, A. (2024) · Trends in Neurosciences · doi:10.1016/j.tins.2024.06.006 · Cited by 2 · see citing works
Circadian Rhythm Sleep Disorders
Richdale, A., & Baker, E. K. (2018) · Sleep in Children with Neurodevelopmental Disabilities · doi:10.1007/978-3-319-98414-8_9 · Cited by 1 · see citing works
Co-designing Nova Sleepcare: identifying priority areas for implementation
Nahal, I. K., Estes, M. L., Currie, G., Heathcote, C., Heathcote, G., Deliscar, E., Deliscar, S., Thomas, M. R., Richardson, A., Dewey, D., et al. (2026) · Frontiers in Pediatrics · doi:10.3389/fped.2026.1760214 · Cited by 1 · see citing works
Sleep in children with neurological disorders
Oh, A., & Troester, M. M. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-822963-7.00032-3 · Cited by 1 · see citing works
Circadian Biology: Rhythms Leave Their Imprint
Ray, D. W. (2015) · Current Biology · doi:10.1016/j.cub.2014.12.045
[Contraindications for and limitations of hearing aids in adults].
Martin, C. (1979) · PubMed
Синдром Ангельмана. Часть 1 (этиология и патогенез)
Абатуров, А. Е., Petrenko, L. L., & Krivusha, Y. L. (2020) · CHILD`S HEALTH · doi:10.22141/2224-0551.5.65.2015.74907
CNOT1 mediates phosphorylation via Protein kinase A on the circadian clockPreprint
Zhang, Y. F., Qin, H., Feng, Y., Gao, P., Zhong, Y., Tan, Y., Wang, H., Xu, Y., Takahashi, J. S., & Huang, G. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/630897
Синдром Ангельмана. Часть 2 (клиника и диагностика)
Абатуров, А. Е., Petrenko, L. L., & Krivusha, О. L. (2020) · CHILD`S HEALTH · doi:10.22141/2224-0551.6.66.2015.75029
Maternal Ube3a is Required for Neurotypical Motivational Drive and GABA co-release
Wallace, J. B. (2019) · Carolina Digital Repository (University of North Carolina at Chapel Hill) · doi:10.17615/m272-rx76
Investigation of Cell-Type-Specific Effects and Synergistic Interactions Between Genes in Duplication 15q Syndrome
Hope, K. A. (2019) · doi:10.21007/etd.cghs.2019.0481
Altered circadian rhythms and sleep in a new Angelman Syndrome mouse modelPreprint
Shi, S.-Q., Mahoney, C. E., Houdek, P., Zhao, W., Anderson, M. P., Zhuo, X., Beaudet, A. L., Sumová, A., Scammell, T. E., & Johnson, C. H. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.10.26.465956
Self-citation
Sleep in children with genetic disorders
Licis, A. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-822963-7.00224-3
How a midwife became a neuroscientist to seek a cure for her son
Landau, E. (2024) · Nature · doi:10.1038/d41586-024-02723-9
Use of Basket Trials to Solve Sleep Problems in Patients with Rare Diseases
Pullen, L. C., Bott, N., McCanless, C., Revana, A., Sevinc, G., Gorman, C., Duncan, A., Poliquin, S., Pfalzer, A. C., Schmidt, K. Q., et al. (2024) · Clocks & Sleep · doi:10.3390/clockssleep6040044
Liquid Chromatograph-High Resolution Mass Spectrometry Analysis of the Fluorinated Proteins in Antarctic (Euphausia Superba) Krill Muscle
Jiang, Z., & Shen, X. (2025) · Journal of Physics Conference Series · doi:10.1088/1742-6596/2941/1/012065
Dysregulation of Neuronal Activity‐Dependent Immediate Early Genes in a Mouse Model of Angelman Syndrome
Giri, B., Das, S., Jana, S., & Jana, N. R. (2025) · Journal of Neurochemistry · doi:10.1111/jnc.70238
Mouse model of Angelman syndrome exhibits reduced retinal activity during development
Gupta, R. K., Fisch, A. J., Orsi, F. S., & Tiriac, A. (2026) · Frontiers in Neuroscience · doi:10.3389/fnins.2026.1895084
Profiles of sleep disturbances in Angelman, Prader-Willi, and Rett syndromes: analysis of standardized questionnaires
Oberman, L. M., Veatch, O. J., Peters, S. U., & Kaufmann, W. E. (2026) · Frontiers in Neurology · doi:10.3389/fneur.2026.1854819
Sleep disruption and neuropsychiatric features in Angelman syndrome: insights into underlying neurobiology
Terrone, G., Miano, M. G., Carotenuto, M., Fiorile, M. F., Aiello, S., Bravaccio, C., & GIUDICE, E. D. (2026) · Sleep Medicine · doi:10.1016/j.sleep.2026.109216
Operant behavior is reliably impaired in a mouse model of Angelman syndrome
Guoynes, C. D., Kerr, D. D., Hotait, Z. S., Tanas, J. K., & Sidorov, M. S. (2026) · Scientific Reports · doi:10.1038/s41598-026-71483-5

Maternal Ube3a Loss Disrupts Sleep Homeostasis But Leaves Circadian Rhythmicity Largely Intact
Ehlen, J. C., Jones, K. A., Pinckney, L., Gray, C. L., Burette, S., Weinberg, R. J., Evans, J. A., Brager, A. J., Zylka, M. J., Paul, K. N., et al. (2015) · Journal of Neuroscience · doi:10.1523/jneurosci.2194-15.2015 · Cited by 91 · see citing works
Altered circadian rhythms and sleep in a new Angelman Syndrome mouse modelPreprint
Shi, S.-Q., Mahoney, C. E., Houdek, P., Zhao, W., Anderson, M. P., Zhuo, X., Beaudet, A. L., Sumová, A., Scammell, T. E., & Johnson, C. H. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.10.26.465956
Self-citation
Circadian Rhythms and Sleep Are Dependent Upon Expression Levels of Key Ubiquitin Ligase Ube3a
Shi, S.-Q., Mahoney, C. E., Houdek, P., Zhao, W., Anderson, M. P., Zhuo, X., Beaudet, A. L., Sumová, A., Scammell, T. E., & Johnson, C. H. (2022) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2022.837523 · Cited by 14 · see citing works
Self-citation
Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice
Jones, K. A., Han, J. E., DeBruyne, J. P., & Philpot, B. D. (2016) · Scientific Reports · doi:10.1038/srep28238 · Cited by 34 · see citing works
Circadian Biology: Rhythms Leave Their Imprint
Ray, D. W. (2015) · Current Biology · doi:10.1016/j.cub.2014.12.045

Authors: Shi, S.-Q., Bichell, T. J., Ihrie, R. A., & Johnson, C. H.
Affiliations: Vanderbilt University (US)
Corresponding author: Johnson, Carl Hirschie
ORCID: Shi, Shu-qun
Bichell, Terry Jo
Ihrie, Rebecca A.
Johnson, Carl Hirschie
Venue: Current Biology
Publisher: Elsevier BV
Published: 2015-03
Volume: 25
Issue: 5
Pages: 537-545
ISSN: 0960-9822 (ISSN-L)
DOI: 10.1016/j.cub.2014.12.047
PMC: PMC4348236
OpenAlex: W2167862439
Cited by: 84
References: 74
Citations by year: 2026: 5 · 2025: 4 · 2024: 6 · 2023: 5 · 2022: 8 · 2021: 5 · 2020: 13 · 2019: 13 · 2018: 12 · 2017: 3 · 2016: 4 · 2015: 5
FWCI: 4.43
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 367 d)
Locations: Current Biology (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: National Heart, Lung, and Blood Institute (R21HL102492)
National Institute of General Medical Sciences (R01GM107434, R01GM088595)
National Institute of Diabetes and Digestive and Kidney Diseases (U24DK076169)
Topics: Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Circadian rhythm and melatonin
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
Life Sciences › Neuroscience › Cognitive Neuroscience › Sleep and Wakefulness Research
Keywords: UBE3A, genomic imprinting, Angelman syndrome, circadian rhythm, circadian period, Bmal1, ubiquitin ligase, sleep disorders, short sleep duration, sleep latency, metabolic homeostasis, pharmacological rescue, mouse model
MeSH terms: Analysis of Variance, Animals, Body Weight, Circadian Rhythm, Humans, Liver, Neurons, Sleep Wake Disorders, Angelman Syndrome, Gene Deletion, Genomic Imprinting, Chronotherapy, Ubiquitin-Protein Ligases, Mice, ARNTL Transcription Factors

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Ube3a Imprinting Impairs Circadian Robustness in Angelman Syndrome Models

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Self-check

Cites

Cited by

Related

Record

About these checks