1 |
Auerbach BD, Osterweil EK, Bear MF (2011) Mutations causing syndromic autism define an axis of synaptic pathophysiology. Nature 480:63-68.
DOI
ScienceOn
|
2 |
Bhakar AL, Dolen G, Bear MF (2012) The pathophysiology of fragile X (and what it teaches us about synapses). Annu Rev Neurosci 35:417-443.
DOI
ScienceOn
|
3 |
Bramham CR, Worley PF, Moore MJ, Guzowski JF (2008) The immediate early gene arc/arg3.1: regulation, mechanisms, and function. J Neurosci 28:11760-11767.
DOI
ScienceOn
|
4 |
Buntinx IM, Hennekam RC, Brouwer OF, Stroink H, Beuten J, Mangelschots K, Fryns JP (1995) Clinical profile of Angelman syndrome at different ages. Am J Med Genet 56:176-183.
DOI
ScienceOn
|
5 |
Collingridge GL, Peineau S, Howland JG, Wang YT (2010) Long-term depression in the CNS. Nat Rev Neurosci 11:459-473.
|
6 |
Daily JL, Nash K, Jinwal U, Golde T, Rogers J, Peters MM, Burdine RD, Dickey C, Banko JL, Weeber EJ (2011) Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome. PLoS One 6:e27221.
DOI
|
7 |
Dan B (2009) Angelman syndrome: current understanding and research prospects. Epilepsia 50:2331-2339.
DOI
ScienceOn
|
8 |
Dindot SV, Antalffy BA, Bhattacharjee MB, Beaudet AL (2008) The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum Mol Genet 17:111-118.
|
9 |
Greer PL, Hanayama R, Bloodgood BL, Mardinly AR, Lipton DM, Flavell SW, Kim TK, Griffith EC, Waldon Z, Maehr R, Ploegh HL, Chowdhury S, Worley PF, Steen J, Greenberg ME (2010) The Angelman syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell 140:704-716.
DOI
ScienceOn
|
10 |
Grunwald IC, Korte M, Adelmann G, Plueck A, Kullander K, Adams RH, Frotscher M, Bonhoeffer T, Klein R (2004) Hippocampal plasticity requires postsynaptic ephrinBs. Nat Neurosci 7:33-40.
DOI
ScienceOn
|
11 |
Grunwald IC, Korte M, Wolfer D, Wilkinson GA, Unsicker K, Lipp HP, Bonhoeffer T, Klein R (2001) Kinaseindependent requirement of EphB2 receptors in hippocampal synaptic plasticity. Neuron 32:1027-1040.
DOI
ScienceOn
|
12 |
Hamilton AM, Oh WC, Vega-Ramirez H, Stein IS, Hell JW, Patrick GN, Zito K (2012) Activity-dependent growth of new dendritic spines is regulated by the proteasome. Neuron 74:1023-1030.
DOI
ScienceOn
|
13 |
Huang HS, Allen JA, Mabb AM, King IF, Miriyala J, Taylor-Blake B, Sciaky N, Dutton JW Jr, Lee HM, Chen X, Jin J, Bridges AS, Zylka MJ, Roth BL, Philpot BD (2012) Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Nature 481: 185-189.
DOI
|
14 |
Larson J, Jessen RE, Kim D, Fine AK, du HJ (2005) Age-dependent and selective impairment of long-term potentiation in the anterior piriform cortex of mice lacking the fragile X mental retardation protein. J Neurosci 25:9460-9469.
DOI
ScienceOn
|
15 |
Jana NR (2012) Understanding the pathogenesis of Angelman syndrome through animal models. Neural Plast 2012: 710943.
|
16 |
Jiang YH, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, Sweatt JD, Beaudet AL (1998) Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 21:799-811.
DOI
ScienceOn
|
17 |
Kaang BK, Choi JH (2012) Synaptic protein degradation in memory reorganization. Adv Exp Med Biol 970: 221-240.
|
18 |
Lauterborn JC, Rex CS, Kramar E, Chen LY, Pandyarajan V, Lynch G, Gall CM (2007) Brain-derived neurotrophic factor rescues synaptic plasticity in a mouse model of fragile X syndrome. J Neurosci 27:10685-10694.
DOI
ScienceOn
|
19 |
Leung HT, Ring H (2011) Epilepsy in four genetically determined syndromes of intellectual disability. J Intellect Disabil Res doi: 10.1111/j.1365-2788.2011.01505.x
|
20 |
Margolis SS, Salogiannis J, Lipton DM, Mandel-Brehm C, Wills ZP, Mardinly AR, Hu L, Greer PL, Bikoff JB, Ho HY, Soskis MJ, Sahin M, Greenberg ME (2010) EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation. Cell 143:442-455.
DOI
ScienceOn
|
21 |
McNamara JO, Huang YZ, Leonard AS (2006) Molecular signaling mechanisms underlying epileptogenesis. Sci STKE 2006:re12.
DOI
ScienceOn
|
22 |
Miura K, Kishino T, Li E, Webber H, Dikkes P, Holmes GL, Wagstaff J (2002) Neurobehavioral and electroencephalographic abnormalities in Ube3a maternaldeficient mice. Neurobiol Dis 9:149-159.
DOI
ScienceOn
|
23 |
Ronesi JA, Collins KA, Hays SA, Tsai NP, Guo W, Birnbaum SG, Hu JH, Worley PF, Gibson JR, Huber KM (2012) Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome. Nat Neurosci 15:431-40, S1.
DOI
ScienceOn
|
24 |
Moncla A, Malzac P, Livet MO, Voelckel MA, Mancini J, Delaroziere JC, Philip N, Mattei JF (1999) Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling. J Med Genet 36:554-560.
|
25 |
Park S, Park JM, Kim S, Kim JA, Shepherd JD, Smith- Hicks CL, Chowdhury S, Kaufmann W, Kuhl D, Ryazanov AG, Huganir RL, Linden DJ, Worley PF (2008) Elongation factor 2 and fragile X mental retardation protein control the dynamic translation of Arc/Arg3.1 essential for mGluR-LTD. Neuron 59:70-83.
DOI
ScienceOn
|
26 |
Piccinin S, Cinque C, Calo L, Molinaro G, Battaglia G, Maggi L, Nicoletti F, Melchiorri D, Eusebi F, Massey PV, Bashir ZI (2010) Interaction between ephrins and mGlu5 metabotropic glutamate receptors in the induction of long-term synaptic depression in the hippocampus. J Neurosci 30:2835-2843.
DOI
ScienceOn
|
27 |
Sato M, Stryker MP (2010) Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a. Proc Natl Acad Sci U S A 107:5611-5616.
DOI
ScienceOn
|
28 |
Shepherd JD, Bear MF (2011) New views of Arc, a master regulator of synaptic plasticity. Nat Neurosci 14:279-284.
DOI
ScienceOn
|
29 |
Tombaugh GC, Rowe WB, Chow AR, Michael TH, Rose GM (2002) Theta-frequency synaptic potentiation in CA1 in vitro distinguishes cognitively impaired from unimpaired aged Fischer 344 rats. J Neurosci 22: 9932-9940.
|
30 |
van Woerden GM, Harris KD, Hojjati MR, Gustin RM, Qiu S, de Avila FR, Jiang YH, Elgersma Y, Weeber EJ (2007) Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alpha CaMKII inhibitory phosphorylation. Nat Neurosci 10: 280-282.
DOI
ScienceOn
|
31 |
Wallace ML, Burette AC, Weinberg RJ, Philpot BD (2012) Maternal loss of Ube3a produces an excitatory/ inhibitory imbalance through neuron type-specific synaptic defects. Neuron 74:793-800.
DOI
ScienceOn
|
32 |
Weeber EJ, Jiang YH, Elgersma Y, Varga AW, Carrasquillo Y, Brown SE, Christian JM, Mirnikjoo B, Silva A, Beaudet AL, Sweatt JD (2003) Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome. J Neurosci 23:2634-2644.
|
33 |
Yashiro K, Riday TT, Condon KH, Roberts AC, Bernardo DR, Prakash R, Weinberg RJ, Ehlers MD, Philpot BD (2009) Ube3a is required for experience-dependent maturation of the neocortex. Nat Neurosci 12:777-783.
DOI
ScienceOn
|
34 |
Zoghbi HY, Bear MF (2012) Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol 4:a009886.
DOI
|