UnDerstanding the pathogenesis of angelman syndrome through animal models

Neural Plasticity

Volumn 2012, Issue , 2012, Pages

  Jana, Nihar Ranjan ^a  

^a NATIONAL BRAIN RESEARCH CENTRE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; CHROMOSOME 15Q; COGNITION; CONTROLLED STUDY; GENE; GENE DELETION; GENE MUTATION; GENETIC TRANSCRIPTION; HAPPY PUPPET SYNDROME; HEREDITY; HUMAN; LOSS OF FUNCTION MUTATION; MOUSE; NERVE CELL PLASTICITY; NONHUMAN; PATHOGENESIS; REVIEW; UBE3A GENE; ANIMAL; C57BL MOUSE; DISEASE MODEL; DROSOPHILA; GENETICS; MOUSE MUTANT; PATHOLOGY; PHYSIOLOGY;

UBE3A PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ANGELMAN SYNDROME; ANIMALS; DISEASE MODELS, ANIMAL; DROSOPHILA; HUMANS; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; NEURONAL PLASTICITY; UBIQUITIN-PROTEIN LIGASES;

EID: 84864959239     PISSN: 20905904     EISSN: 16875443     Source Type: Journal    
DOI: 10.1155/2012/710943     Document Type: Review

References (101)

1. Buntinx I. M., Hennekam R. C. M., Brouwer O. F., Stroink H., Beuten J., Mangelschots K., Fryns J. P., Clinical profile of Angelman syndrome at different ages American Journal of Medical Genetics 1995 56 2 176 183
2. Clayton-Smith J., Laan L., Angelman syndrome: a review of the clinical and genetic aspects Journal of Medical Genetics 2003 40 2 87 95 (Pubitemid 36232812)
3. Laan L. A. E. M., Haeringen A. V., Brouwer O. F., Angelman syndrome: a review of clinical and genetic aspects Clinical Neurology and Neurosurgery 1999 101 3 161 170 (Pubitemid 29447580)
4. Peters S. U., Beaudet A. L., Madduri N., Bacino C. A., Autism in Angelman syndrome: implications for autism research Clinical Genetics 2004 66 6 530 536 (Pubitemid 39562016)
5. Williams C. A., Lossie A., Driscoll D., Angelman syndrome: mimicking conditions and phenotypes American Journal of Medical Genetics 2001 101 1 59 64 (Pubitemid 32429913)
6. Schroer R. J., Phelan M. C., Michaelis R. C., Crawford E. C., Skinner S. A., Cuccaro M., Autism and maternally Derived aberrations of chromosome 15q American Journal of Medical Genetics 1998 76 327 336 (Pubitemid 28136106)
7. Kaplan L. C., Wharton R., Elias E., Mandell F., Donlon T., Latt S. A., Clinical heterogeneity associated with Deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance American Journal of Medical Genetics 1987 28 1 45 53 (Pubitemid 17153132)
8. Magenis R. E., Brown M. G., Lacy D. A., BudDen S., LaFranchi S., Is Angelman syndrome an alternative result of del(15)(q11q13)? American Journal of Medical Genetics 1987 28 4 829 838 (Pubitemid 17163753)
9. Butler M. G., Palmer C. G., Parental origin of chromosome 15 Deletion in PraDer-Willi syndrome The Lancet 1983 1 8336 1285 1286
10. Ledbetter D. H., Mascarello J. T., Riccardi V. M., Chromosome 15 abnormalities and the PraDer-Willi syndrome: a follow-up report of 40 cases American Journal of Human Genetics 1982 34 2 278 285 (Pubitemid 12148024)
11. Pembrey M., Fennell S. J., Van Den Berghe J., Fitchett M., Summers D., Butler L., Clarke C., Griffiths M., Thompson E., Super M., Baraitser M., The association of Angelman's syndrome with Deletions within 15p11-13 Journal of Medical Genetics 1989 26 2 73 77 (Pubitemid 19047354)
12. Knoll J. H. M., Nicholls R. D., Magenis R. E., Glatt K., Graham J. M., Kaplan L., Lalande M., Angelman syndrome: three molecular classes iDentified with chromosome 15q1 1q13-specific DNA markers American Journal of Human Genetics 1990 47 1 149 154
13. Magenis R. E., Toth-Fejel S., Allen L. J., Black M., Brown M. G., BudDen S., Cohen R., Friedman J. M., Kalousek D., Zonana J., Lacy D., LaFranchi S., Lahr M., Macfarlane J., Williams C. P. S., Comparison of the 15q Deletions in PraDer-Willi and Angelman syndromes: specific regions, extent of Deletions, parental origin, and clinical consequences American Journal of Medical Genetics 1990 35 3 333 349 (Pubitemid 20068463)
14. Knoll J. H. M., Nicholls R. D., Lalande M., On the parental origin of the Deletion in Angelman syndrome Human Genetics 1989 83 2 205 207
15. Knoll J. H. M., Glatt K. A., Nicholls R. D., Malcolm S., Lalande M., Chromosome 15 uniparental disomy is not frequent in Angelman syndrome American Journal of Human Genetics 1991 48 1 16 21 (Pubitemid 21903019)
16. Clayton-Smith J., Webb T., Cheng X. J., Pembrey M. E., Malcolm S., Duplication of chromosome 15 in the region 15q11-13 in a patient with Developmental delay and ataxia with similarities to Angelman Journal of Medical Genetics 1993 30 6 529 531 (Pubitemid 23197282)
17. Clayton-Smith J., Webb T., Robb S. A., Dijkstra I., Willems P., Lam S., Cheng- X. J., Pembrey M. E., Malcolm S., Further eviDence for dominant inheritance at the chromosome 15q1113 locus in familial Angelman syndrome American Journal of Medical Genetics 1992 44 2 256 260
18. Vendrame M., LodDenkemper T., Zarowski M., Gregas M., Shuhaiber H., Sarco D. P., Analysis of EEG patterns and genotypes in patients with Angelman syndrome Epilepsy Behavior 2012 23 261 265
19. Lossie A. C., Whitney M. M., Amidon D., Dong H. J., Chen P., Theriaque D., Hutson A., Nicholls R. D., Zori R. T., Williams C. A., Driscoll D. J., Distinct phenotypes distinguish the molecular classes of Angelman syndrome Journal of Medical Genetics 2001 38 12 834 845 (Pubitemid 34014208)
20. Malzac P., Webber H., Moncla A., Graham J. M., Kukolich M., Williams C., Pagon R. A., Ramsdell L. A., Kishino T., Wagstaff J., Mutation analysis of UBE3A in angelman syndrome patients American Journal of Human Genetics 1998 62 6 1353 1360 (Pubitemid 28307104)
21. Moncla A., Malzac P., Livet M. O., Voelckel M. A., Mancini J., delaroziere J. C., Philip N., Mattei J. F., Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling Journal of Medical Genetics 1999 36 7 554 560 (Pubitemid 29301599)
22. Jiang Y. H., Sahoo T., Michaelis R. C., Bercovich D., Bressler J., Kashork C. D., Liu Q., Shaffer L. G., Schroer R. J., Stockton D. W., Spielman R. S., Stevenson R. E., Beaudet A. L., A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A American Journal of Medical Genetics 2004 131 1 1 10 (Pubitemid 39434788)
23. Schanen N. C., Epigenetics of autism spectrum disorDers Human Molecular Genetics 2006 15 2 R138 R150
24. Vu T. H., Hoffman A. R., Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain Nature genetics 1997 17 1 12 13
25. Glessner J. T., Wang K., Cai G., Korvatska O., Kim C. E., Wood S., Zhang H., Estes A., Brune C. W., Bradfield J. P., Imielinski M., Frackelton E. C., Reichert J., Crawford E. L., Munson J., Sleiman P. M. A., Chiavacci R., Annaiah K., Thomas K., Hou C., Glaberson W., Flory J., Otieno F., Garris M., Soorya L., Klei L., Piven J., Meyer K. J., Anagnostou E., Sakurai T., Game R. M., Rudd D. S., Zurawiecki D., McDougle C. J., Davis L. K., Miller J., Posey D. J., Michaels S., Kolevzon A., Silverman J. M., Bernier R., Levy S. E., Schultz R. T., Dawson G., Owley T., McMahon W. M., Wassink T. H., Sweeney J. A., Nurnberger J. I., Coon H., Sutcliffe J. S., Minshew N. J., Grant S. F. A., Bucan M., Cook E. H., Buxbaum J. D., devlin B., Schellenberg G. D., Hakonarson H., Autism genome-wide copy number variation reveals ubiquitin and neuronal genes Nature 2009 459 7246 569 573
26. Kishino T., Wagstaff J., Genomic organization of the UBE3A/E6-AP gene and related pseudogenes Genomics 1998 47 1 101 107 (Pubitemid 28080086)
27. Huibregtse J. M., Scheffner M., Howley P. M., Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53 Molecular and Cellular Biology 1993 13 2 775 784 (Pubitemid 23040242)
28. Scheffner M., Huibregtse J. M., Vierstra R. D., Howley P. M., The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53 Cell 1993 75 3 495 505 (Pubitemid 23335075)
29. Yamamoto Y., Huibregtse J. M., Howley P. M., The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing Genomics 1997 41 2 263 266 (Pubitemid 27175356)
30. Hershko A., Ciechanover A., The ubiquitin system for protein degradation Annual Review of Biochemistry 1992 61 761 807
31. Huibregtse J. M., Scheffner M., BeauDenon S., Howley P. M., A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase Proceedings of the National Academy of Sciences of the United States of America 1995 92 11 5249
32. Scheffner M., Nuber U., Huibregtse J. M., Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade Nature 1995 373 6509 81 83
33. Jiang Y. H., Armstrong D., Albrecht U., Atkins C. M., Noebels J. L., Eichele G., Sweatt J. D., Beaudet A. L., Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and Deficits of contextual learning and long-term potentiation Neuron 1998 21 4 799 811 (Pubitemid 28498788)
34. Dindot S. V., Antalffy B. A., Bhattacharjee M. B., Beaudet A. L., The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal Dendritic spine morphology Human Molecular Genetics 2008 17 1 111 118
35. 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., Ube3a is required for experience-depenDent maturation of the neocortex Nature Neuroscience 2009 12 6 777 783
36. Weeber E. J., Jiang Y. H., Elgersma Y., Varga A. W., Carrasquillo Y., Brown S. E., Christian J. M., Mirnikjoo B., Silva A., Beaudet A. L., Sweatt J. D., Derangements of hippocampal calcium/calmodulin-depenDent protein kinase II in a mouse model for Angelman mental retardation syndrome Journal of Neuroscience 2003 23 7 2634 2644 (Pubitemid 36418598)
37. Sato M., Stryker M. P., Genomic imprinting of experience-depenDent cortical plasticity by the ubiquitin ligase gene Ube3a Proceedings of the National Academy of Sciences of the United States of America 2010 107 12 5611 5616
38. Miura K., Kishino T., Li E., Webber H., Dikkes P., Holmes G. L., Wagstaff J., Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice Neurobiology of Disease 2002 9 2 149 159 (Pubitemid 34261211)
39. Jiang Y. H., Pan Y., Zhu L., Landa L., Yoo J., Spencer C., Lorenzo I., Brilliant M., Noebels J., Beaudet A. L., Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal Deletion from Ube3a to Gabrb3 PLoS ONE 2010 5 8, article 114
40. Cattanach B. M., Barr J. A., Beechey C. V., Martin J., Noebels J., Jones J., A candidate model for Angelman syndrome in the mouse Mammalian Genome 1997 8 7 472 478 (Pubitemid 28088880)
41. Gabriel J. M., Merchant M., Ohta T., Ji Y., Caldwelli R. G., Ramsey M. J., Tucker J. D., Longnecker R., Nicholls R. D., A transgene insertion creating a heritable chromosome Deletion mouse model of PraDer-Willi and Angelman syndromes Proceedings of the National Academy of Sciences of the United States of America 1999 96 16 9258 9263 (Pubitemid 29374742)
42. Nakatani J., Tamada K., Hatanaka F., Ise S., Ohta H., Inoue K., Tomonaga S., Watanabe Y., Chung Y. J., Banerjee R., Iwamoto K., Kato T., Okazawa M., Yamauchi K., Tanda K., Takao K., Miyakawa T., Bradley A., Takumi T., Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in Autism Cell 2009 137 7 1235 1246
43. Wu M. Y., Chen K. S., Bressler J., Hou A., Tsai T. F., Beaudet A. L., Mouse imprinting defect mutations that model angelman syndrome Genesis 2006 44 1 12 22 (Pubitemid 43222206)
44. Ding F., Prints Y., Dhar M. S., Johnson D. K., Garnacho-Montero C., Nicholls R. D., Francke U., Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in PraDer-Willi syndrome mouse models Mammalian Genome 2005 16 6 424 431 (Pubitemid 41557502)
45. Nawaz Z., Lonard D. M., Smith C. L., Lev-Lehman E., Tsai S. Y., Tsai M. J., O'Malley B. W., The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily Molecular and Cellular Biology 1999 19 2 1182 1189 (Pubitemid 29046860)
46. Khan O. Y., Fu G., Ismail A., Srinivasan S., Cao X., Tu Y., Lu S., Nawaz Z., Multifunction steroid receptor coactivator, E6-associated protein, is involved in Development of the prostate gland Molecular Endocrinology 2006 20 3 544 559 (Pubitemid 43291207)
47. Smith C. L., deVera D. G., Lamb D. J., Nawaz Z., Jiang Y. H., Beaudet A. L., O'Malley B. W., Genetic ablation of the steroid receptor coactivator-ubiquitin ligase, E6-AP, results in tissue-selective steroid hormone resistance and Defects in reproduction Molecular and Cellular Biology 2002 22 2 525 535 (Pubitemid 34027497)
48. Mishra A., Godavarthi S. K., Jana N. R., UBE3A/E6-AP regulates cell proliferation by promoting proteasomal degradation of p27 Neurobiology of Disease 2009 36 1 26 34
49. Mishra A., Jana N. R., Regulation of turnover of tumor suppressor p53 and cell growth by E6-AP, a ubiquitin protein ligase mutated in Angelman mental retardation syndrome Cellular and Molecular Life Sciences 2008 65 4 656 666
50. Kumar S., Talis A. L., Howley P. M., IDentification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination Journal of Biological Chemistry 1999 274 26 18785 18792
51. Louria-Hayon I., Alsheich-Bartok O., Levav-Cohen Y., Silberman I., Berger M., Grossman T., Matentzoglu K., Jiang Y. H., Muller S., Scheffner M., Haupt S., Haupt Y., E6AP promotes the degradation of the PML tumor suppressor Cell death and Differentiation 2009 16 8 1156 1166
52. Oda H., Kumar S., Howley P. M., Regulation of the Src family tyrosine kinase Blk through E6AP-mediated ubiquitination Proceedings of the National Academy of Sciences of the United States of America 1999 96 17 9557 9562 (Pubitemid 29398769)
53. Kaphzan H., Hernandez P., Jung J.I., Cowansage K.K., Deinhardt K., Chao M.V., Reversal of impaired hippocampal long-term potentiation and contextual fear memory Deficits in angelman syndrome model Mice by ErbB inhibitors. Biological Psychiatry. In press
54. Greer P. L., Hanayama R., Bloodgood B. L., Mardinly A. R., Lipton D. M., Flavell S. W., Kim T. K., Griffith E. C., Waldon Z., Maehr R., Ploegh H. L., Chowdhury S., Worley P. F., Steen J., Greenberg M. E., The Angelman syndrome protein Ube3A regulates synapse Development by ubiquitinating Arc Cell 2010 140 5 704 716
55. Mabb A. M., Judson M. C., Zylka M. J., Philpot B. D., Angelman syndrome: insights into genomic imprinting and neuroDevelopmental phenotypes Trends in Neurosciences 2011 34 6 293 303
56. Margolis S. S., Salogiannis J., Lipton D. M., Mandel-Brehm C., Wills Z. P., Mardinly A. R., Hu L., Greer P. L., Bikoff J. B., Ho H. Y. H., Soskis M. J., Sahin M., Greenberg M. E., EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a Developmental brake on excitatory synapse formation Cell 2010 143 3 442 455
57. Kaphzan H., Buffington S. A., Jung J. I., Rasband M. N., Klann E., Alterations in intrinsic membrane properties and the axon initial segment in a mouse model of Angelman syndrome The Journal of Neuroscience 2011 31 17637 17648
58. Reiter L. T., Seagroves T. N., Bowers M., Bier E., Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase Human Molecular Genetics 2006 15 18 2825 2835 (Pubitemid 44400409)
59. Mishra A., Dikshit P., Purkayastha S., Sharma J., Nukina N., Jana N. R., E6-AP promotes misfolded polyglutamine proteins for proteasomal degradation and suppresses polyglutamine protein aggregation and toxicity Journal of Biological Chemistry 2008 283 12 7648 7656
60. Mishra A., Godavarthi S. K., Maheshwari M., Goswami A., Jana N. R., The ubiquitin ligase E6-AP is induced and recruited to aggresomes in response to proteasome inhibition and may be involved in the ubiquitination of Hsp70-bound misfolded proteins Journal of Biological Chemistry 2009 284 16 10537 10545
61. Mulherkar S. A., Sharma J., Jana N. R., The ubiquitin ligase E6-AP promotes degradation of -synuclein Journal of Neurochemistry 2009 110 6 1955 1964
62. Cattanach B. M., Barr J. A., Evans E. P., Burtenshaw M., Beechey C. V., Leff S. E., Brannan C. I., Copeland N. G., Jenkins N. A., Jones J., A candidate mouse model for PraDer-Willi syndrome which shows an absence of Snrpn expression Nature Genetics 1992 2 4 270 274
63. Boyd S. G., HarDen A., Patton M. A., The EEG in early diagnosis of the Angelman (Happy Puppet) syndrome European Journal of Pediatrics 1988 147 5 508 513
64. Buoni S., Grosso S., Pucci L., Fois A., Diagnosis of Angelman syndrome: clinical and EEG criteria Brain and Development 1999 21 5 296 302 (Pubitemid 29299377)
65. Kishino T., Lalande M., Wagstaff J., UBE3A/E6-AP mutations cause Angelman syndrome Nature Genetics 1997 15 1 70 73 (Pubitemid 27014952)
66. Matsuura T., Sutcliffe J. S., Fang P., Galjaard R. J., Jiang Y. H., Benton C. S., Rommens J. M., Beaudet A. L., de novo truncating mutations in E6-Ap ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome Nature Genetics 1997 15 1 74 77 (Pubitemid 27014953)
67. Albrecht U., Sutcliffe J. S., Cattanach B. M., Beechey C. V., Armstrong D., Eichele G., Beaudet A. L., Imprinted expression of the murine angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons Nature Genetics 1997 17 1 75 78 (Pubitemid 27377535)
68. Rougeulle C., Glatt H., Lalande M., The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain Nature Genetics 1997 17 1 14 15
69. 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., Tissue-specific variation of Ube3a protein expression in roDents and in a mouse model of Angelman syndrome Neurobiology of Disease 2010 39 3 283 291
70. Heck D. H., Zhao Y., Roy S., Ledoux M. S., Reiter L. T., Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors Human Molecular Genetics 2008 17 14 2181 2189 (Pubitemid 351911986)
71. Varela M. C., Kok F., Otto P. A., Koiffmann C. P., Phenotypic variability in Angelman syndrome: comparison among different Deletion classes and between Deletion and UPD subjects European Journal of Human Genetics 2004 12 12 987 992 (Pubitemid 39600125)
72. Cheron G., Servais L., Dan B., Gall D., Roussel C., Schiffmann S. N., Fast oscillation in the cerebellar cortex of calcium binding protein-deficient mice: a new sensorimotor arrest rhythm Progress in Brain Research 2005 148 165 180
73. Dan B., Chéron G., Postural rhythmic muscle bursting activity in Angelman syndrome Brain and Development 2004 26 6 389 393 (Pubitemid 38953327)
74. Mulherkar S. A., Jana N. R., Loss of dopaminergic neurons and resulting behavioural Deficits in mouse model of Angelman syndrome Neurobiology of Disease 2010 40 3 586 592
75. Harbord M., Levodopa responsive Parkinsonism in adults with Angelman Syndrome Journal of Clinical Neuroscience 2001 8 5 421 422 (Pubitemid 32843694)
76. Guerrini R., de Lorey T. M., Bonanni P., Monda A., Dravet C., Suisse G., Livet M. O., Bureau M., Malzac P., Genton P., Thomas P., Sartucci F., Simi P., Serratosa J. M., Cortical myoclonus in Angelman syndrome Annals of Neurology 1996 40 1 39 48 (Pubitemid 26250141)
77. Stecker M. M., Myers S. M., Reserpine responsive myoclonus and hyperpyrexia in a patient with Angelman syndrome Clinical Neurology and Neurosurgery 2003 105 3 183 187 (Pubitemid 36809201)
78. Van WoerDen G. M., Harris K. D., Hojjati M. R., Gustin R. M., Qiu S., de Avila Freire R., Jiang Y. H., Elgersma Y., Weeber E. J., Rescue of neurological Deficits in a mouse model for Angelman syndrome by reduction of CaMKII inhibitory phosphorylation Nature Neuroscience 2007 10 3 280 282
79. Dorrn A. L., Yuan K., Barker A. J., Schreiner C. E., Froemke R. C., Developmental sensory experience balances cortical excitation and inhibition Nature 2010 465 7300 932 936
80. Engert J. C., Bérubé P., Mercier J., Doré C., Lepage P., Ge B., Bouchard J. P., Mathieu J., Melanon S. B., Schalling M., LanDer E. S., Morgan K., Hudson T. J., Richter A., ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF Nature Genetics 2000 24 2 120 125 (Pubitemid 30094710)
81. Parfitt D. A., Michael G. J., Vermeulen E. G. M., Prodromou N. V., Webb T. R., Gallo J. M., Cheetham M. E., Nicoll W. S., Blatch G. L., Chapple J. P., The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1 Human Molecular Genetics 2009 18 9 1556 1565
82. Jay V., Becker L. E., Chan F. W., Perry T. L., Puppet-like syndrome of Angelman: a pathologic and neurochemical study Neurology 1991 41 3 416 422
83. Ramamoorthy S., Nawaz Z., E6-associated protein (E6-AP) is a dual function coactivator of steroid hormone receptors Nuclear receptor signaling 2008 6, article e006
84. Godavarthi S. K., dey P., Maheshwari M., Ranjan Jana N., Defective glucocorticoid hormone receptor signaling leads to increased stress and anxiety in a mouse model of Angelman syndrome Human Molecular Genetics 2012 21 8 1824 1834
85. Yamasaki K., Joh K., Ohta T., Masuzaki H., Ishimaru T., Mukai T., Niikawa N., Ogawa M., Wagstaff J., Kishino T., Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a Human Molecular Genetics 2003 12 8 837 847 (Pubitemid 36504026)
86. Pelc K., Cheron G., Boyd S. G., Dan B., Are there distinctive sleep problems in Angelman syndrome? Sleep Medicine 2008 9 4 434 441 (Pubitemid 351664084)
87. Mardirossian S., Rampon C., Salvert D., Fort P., Sarda N., Impaired hippocampal plasticity and altered neurogenesis in adult Ube3a maternal deficient mouse model for Angelman syndrome Experimental Neurology 2009 220 2 341 348
88. deLorey T. M., Handforth A., Anagnostaras S. G., Homanics G. E., Minassian B. A., Asatourian A., Fanselow M. S., Delgado-Escueta A., Ellison G. D., Olsen R. W., Mice lacking the 3 subunit of the GABA(A) receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome Journal of Neuroscience 1998 18 20 8505 8514 (Pubitemid 28465025)
89. Nicholls R. D., Gottlieb W., Russell L. B., Davda M., Horsthemke B., Rinchik E. M., Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse Proceedings of the National Academy of Sciences of the United States of America 1993 90 5 2050 2054 (Pubitemid 23069995)
90. Dan B., Boyd S. G., Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis Neuropediatrics 2003 34 4 169 176 (Pubitemid 37152785)
91. Johnstone K. A., DuBose A. J., Futtner C. R., Elmore M. D., Brannan C. I., Resnick J. L., A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting Defects Human Molecular Genetics 2006 15 3 393 404 (Pubitemid 43159892)
92. Smith S. E., Zhou Y. D., Zhang G., Jin Z., Stoppel D. C., AnDerson M. P., Increased gene dosage of Ube3a results in autism traits and Decreased glutamate synaptic transmission in mice Science Translational Medicine 2011 3
93. Kohama C., Kato H., Numata K., Hirose M., Takemasa T., Ogura A., ES cell differentiation system recapitulates the establishment of imprinted gene expression in a cell-type-specific manner Human Molecular Genetics 2011 21 1391 1401
94. Chamberlain S. J., Chen P. F., Ng K. Y., Bourgois-Rocha F., Lemtiri-Chlieh F., Levine E. S., Lalande M., Induced pluripotent stem cell models of the genomic imprinting disorDers Angelman and PraDer-Willi syndromes Proceedings of the National Academy of Sciences of the United States of America 2010 107 41 17668 17673
95. Wu Y., Bolduc F. V., Bell K., Tully T., Fang Y., Sehgal A., Fischer J. A., A Drosophila model for Angelman syndrome Proceedings of the National Academy of Sciences of the United States of America 2008 105 34 12399 12404
96. Lu Y., Wang F., Li Y., Ferris J., Lee J. A., Gao F. B., The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal Dendritic branches Human Molecular Genetics 2009 18 3 454 462
97. Hensch T. K., Critical period regulation Annual Review of Neuroscience 2004 27 549 579 (Pubitemid 39050413)
98. Daily J. L., Nash K., Jinwal U., Golde T., Rogers J., Peters M. M., ADeno-associated virus-mediated rescue of the cognitive Defects in a mouse model for Angelman syndrome PloS ONE 2011 6
99. Bird L. M., Tan W. H., Bacino C. A., Peters S. U., Skinner S. A., Anselm I., A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome American Journal of Medical Genetics 2011 155 2956 2963
100. Peters S. U., Bird L. M., Kimonis V., Glaze D. G., Shinawi L. M., Bichell T. J., Barbieri-Welge R., Nespeca M., Anselm I., Waisbren S., Sanborn E., Sun Q., O'Brien W. E., Beaudet A. L., Bacino C. A., Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid American Journal of Medical Genetics, Part A 2010 152 8 1994 2001
101. Huang H. S., Allen J. A., Mabb A. M., King I. F., Miriyala J., Taylor-Blake B., Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons Nature 2012 481 185 189