The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.
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[1] W. Roberts,et al. Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes , 2007, Neurogenetics.
[2] M. Ehlers. Faculty Opinions recommendation of Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation. , 2007 .
[3] Rodney C. Samaco,et al. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes , 2007, Nature Genetics.
[4] J. Choe,et al. Human papillomavirus type 16 E6 protein interacts with cystic fibrosis transmembrane regulator-associated ligand and promotes E6-associated protein-mediated ubiquitination and proteasomal degradation , 2007, Oncogene.
[5] E. Bier,et al. Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase. , 2006, Human molecular genetics.
[6] Aaron DiAntonio,et al. Highwire Restrains Synaptic Growth by Attenuating a MAP Kinase Signal , 2006, Neuron.
[7] W. Greenough,et al. Hippocampal pyramidal cells in adult Fmr1 knockout mice exhibit an immature-appearing profile of dendritic spines , 2006, Brain Research.
[8] A. Beaudet,et al. Angelman syndrome 2005: Updated consensus for diagnostic criteria , 2006, American journal of medical genetics. Part A.
[9] H. Zoghbi,et al. Learning and Memory and Synaptic Plasticity Are Impaired in a Mouse Model of Rett Syndrome , 2006, The Journal of Neuroscience.
[10] P. Bolton,et al. Autism spectrum disorders in Prader–Willi and Angelman syndromes: a systematic review , 2005, Psychiatric genetics.
[11] A. Malovannaya,et al. Proteomic analysis of steady-state nuclear hormone receptor coactivator complexes. , 2005, Molecular endocrinology.
[12] E. De Schutter,et al. Deletion of FMR1 in Purkinje Cells Enhances Parallel Fiber LTD, Enlarges Spines, and Attenuates Cerebellar Eyelid Conditioning in Fragile X Syndrome , 2005, Neuron.
[13] W. Greenough,et al. Dendritic spine abnormalities in the occipital cortex of C57BL/6 Fmr1 knockout mice , 2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
[14] T. Südhof,et al. C-terminal ECFP Fusion Impairs Synaptotagmin 1 Function , 2005, Journal of Biological Chemistry.
[15] J. Bressler,et al. A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A , 2004, American journal of medical genetics. Part A.
[16] Pascal Jourdain,et al. Calcium/Calmodulin-Dependent Protein Kinase II Contributes to Activity-Dependent Filopodia Growth and Spine Formation , 2003, The Journal of Neuroscience.
[17] M. Bear,et al. Ubiquitination Regulates PSD-95 Degradation and AMPA Receptor Surface Expression , 2003, Neuron.
[18] N. Niikawa,et al. Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. , 2003, Human molecular genetics.
[19] Alcino J. Silva,et al. Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome , 2003, The Journal of Neuroscience.
[20] H. Zoghbi,et al. A Long CAG Repeat in the Mouse Sca1 Locus Replicates SCA1 Features and Reveals the Impact of Protein Solubility on Selective Neurodegeneration , 2002, Neuron.
[21] G. Holmes,et al. Neurobehavioral and Electroencephalographic Abnormalities in Ube3a Maternal-Deficient Mice , 2002, Neurobiology of Disease.
[22] D. J. Driscoll,et al. Distinct phenotypes distinguish the molecular classes of Angelman syndrome , 2001, Journal of medical genetics.
[23] D. Armstrong. Rett syndrome neuropathology review 2000 , 2001, Brain and Development.
[24] Karel Svoboda,et al. Abnormal Development of Dendritic Spines inFMR1 Knock-Out Mice , 2001, The Journal of Neuroscience.
[25] I. Weiler,et al. Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. , 2001, American journal of medical genetics.
[26] Roland Strauss,et al. Highwire Regulates Synaptic Growth in Drosophila , 2000, Neuron.
[27] Harry T Orr,et al. Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice , 1999, Neuron.
[28] M. Tsai,et al. The Angelman Syndrome-Associated Protein, E6-AP, Is a Coactivator for the Nuclear Hormone Receptor Superfamily , 1999, Molecular and Cellular Biology.
[29] Gregor Eichele,et al. Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation , 1998, Neuron.
[30] J. Sutcliffe,et al. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons , 1997, Nature Genetics.
[31] I. Weiler,et al. Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. , 1997, Proceedings of the National Academy of Sciences of the United States of America.
[32] P. Howley,et al. The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing. , 1997, Genomics.
[33] B. Leventhal,et al. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. , 1997, American journal of human genetics.
[34] A. Dahlström,et al. Studies on the 3-dimensional architecture of dendritic spines and varicosities in human cortex by confocal laser scanning microscopy and Lucifer Yellow microinjections , 1995, Journal of Neuroscience Methods.
[35] W. Brown,et al. Analysis of neocortex in three males with the fragile X syndrome. , 1991, American journal of medical genetics.
[36] E. Weeber,et al. Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation , 2007, Nature Neuroscience.