Literature DB >> 24091829

E6AP in the brain: one protein, dual function, multiple diseases.

Jimmy El Hokayem1, Zafar Nawaz.   

Abstract

E6-Associated Protein (E6AP), the founding member of the HECT (Homologus to E6AP C terminus) family of ubiquitin ligases, has been gaining increased attention from the scientific community. In addition to its ubiquitin ligase function, our laboratory has also identified steroid hormone receptor transcriptional coactivation as yet another essential function of this protein. Furthermore, it has been established that E6AP has a role in numerous diseases including cancers and neurological syndromes. In this review, we delineate genetic and biochemical knowledge of E6AP and we focus on its role in the pathobiology of neuro-developmental and neuro-aging diseases; bringing to light important gaps of knowledge related to the involvement of its well-studied ligase function versus the much less studied nuclear receptor transcriptional coactivation function in the pathogenesis of these diseases. Tackling these gaps of knowledge could reveal novel possible neuro-pathobiological mechanisms and present crucial information for the design of effective treatment modalities for devastating CNS diseases.

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Year:  2013        PMID: 24091829     DOI: 10.1007/s12035-013-8563-y

Source DB:  PubMed          Journal:  Mol Neurobiol        ISSN: 0893-7648            Impact factor:   5.590


  117 in total

1.  Postural rhythmic muscle bursting activity in Angelman syndrome.

Authors:  Bernard Dan; Guy Chéron
Journal:  Brain Dev       Date:  2004-09       Impact factor: 1.961

2.  Physical interaction between specific E2 and Hect E3 enzymes determines functional cooperativity.

Authors:  S Kumar; W H Kao; P M Howley
Journal:  J Biol Chem       Date:  1997-05-23       Impact factor: 5.157

3.  Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome.

Authors:  Edwin J Weeber; Yong-Hui Jiang; Ype Elgersma; Andrew W Varga; Yarimar Carrasquillo; Sarah E Brown; Jill M Christian; Banefsheh Mirnikjoo; Alcino Silva; Arthur L Beaudet; J David Sweatt
Journal:  J Neurosci       Date:  2003-04-01       Impact factor: 6.167

4.  Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a.

Authors:  Masaaki Sato; Michael P Stryker
Journal:  Proc Natl Acad Sci U S A       Date:  2010-03-08       Impact factor: 11.205

5.  The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing.

Authors:  Y Yamamoto; J M Huibregtse; P M Howley
Journal:  Genomics       Date:  1997-04-15       Impact factor: 5.736

6.  Structure of an E6AP-UbcH7 complex: insights into ubiquitination by the E2-E3 enzyme cascade.

Authors:  L Huang; E Kinnucan; G Wang; S Beaudenon; P M Howley; J M Huibregtse; N P Pavletich
Journal:  Science       Date:  1999-11-12       Impact factor: 47.728

7.  Puppet-like syndrome of Angelman: a pathologic and neurochemical study.

Authors:  V Jay; L E Becker; F W Chan; T L Perry
Journal:  Neurology       Date:  1991-03       Impact factor: 9.910

8.  Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.

Authors:  Joseph T Glessner; Kai Wang; Guiqing Cai; Olena Korvatska; Cecilia E Kim; Shawn Wood; Haitao Zhang; Annette Estes; Camille W Brune; Jonathan P Bradfield; Marcin Imielinski; Edward C Frackelton; Jennifer Reichert; Emily L Crawford; Jeffrey Munson; Patrick M A Sleiman; Rosetta Chiavacci; Kiran Annaiah; Kelly Thomas; Cuiping Hou; Wendy Glaberson; James Flory; Frederick Otieno; Maria Garris; Latha Soorya; Lambertus Klei; Joseph Piven; Kacie J Meyer; Evdokia Anagnostou; Takeshi Sakurai; Rachel M Game; Danielle S Rudd; Danielle Zurawiecki; Christopher J McDougle; Lea K Davis; Judith Miller; David J Posey; Shana Michaels; Alexander Kolevzon; Jeremy M Silverman; Raphael Bernier; Susan E Levy; Robert T Schultz; Geraldine Dawson; Thomas Owley; William M McMahon; Thomas H Wassink; John A Sweeney; John I Nurnberger; Hilary Coon; James S Sutcliffe; Nancy J Minshew; Struan F A Grant; Maja Bucan; Edwin H Cook; Joseph D Buxbaum; Bernie Devlin; Gerard D Schellenberg; Hakon Hakonarson
Journal:  Nature       Date:  2009-04-28       Impact factor: 49.962

Review 9.  Imprinting in Angelman and Prader-Willi syndromes.

Authors:  Y Jiang; T F Tsai; J Bressler; A L Beaudet
Journal:  Curr Opin Genet Dev       Date:  1998-06       Impact factor: 5.578

10.  Spatial and temporal silencing of the human maternal UBE3A gene.

Authors:  Jennifer Daily; Amanda G Smith; Edwin J Weeber
Journal:  Eur J Paediatr Neurol       Date:  2012-05-03       Impact factor: 3.140

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  12 in total

Review 1.  The Regulation of Synaptic Protein Turnover.

Authors:  Beatriz Alvarez-Castelao; Erin M Schuman
Journal:  J Biol Chem       Date:  2015-10-09       Impact factor: 5.157

2.  Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice.

Authors:  Matthew C Judson; Alain C Burette; Courtney L Thaxton; Alaine L Pribisko; Mark D Shen; Ashley M Rumple; Wilmer A Del Cid; Beatriz Paniagua; Martin Styner; Richard J Weinberg; Benjamin D Philpot
Journal:  J Neurosci       Date:  2017-06-29       Impact factor: 6.167

3.  E6-Associated Protein Dependent Estrogen Receptor Regulation of Protein Kinase A Regulatory Subunit R2A Expression in Neuroblastoma.

Authors:  Jean-Pierre Obeid; Youssef H Zeidan; Nawal Zafar; Jimmy El Hokayem
Journal:  Mol Neurobiol       Date:  2017-02-18       Impact factor: 5.590

4.  Subcellular organization of UBE3A in neurons.

Authors:  Alain C Burette; Matthew C Judson; Susan Burette; Kristen D Phend; Benjamin D Philpot; Richard J Weinberg
Journal:  J Comp Neurol       Date:  2016-07-11       Impact factor: 3.215

Review 5.  Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.

Authors:  Janine M LaSalle; Lawrence T Reiter; Stormy J Chamberlain
Journal:  Epigenomics       Date:  2015-11-20       Impact factor: 4.778

6.  Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.

Authors:  Stijn N V Bossuyt; A Mattijs Punt; Ilona J de Graaf; Janny van den Burg; Mark G Williams; Helen Heussler; Ype Elgersma; Ben Distel
Journal:  Hum Mol Genet       Date:  2021-04-30       Impact factor: 6.150

Review 7.  UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome.

Authors:  Ype Elgersma; Monica Sonzogni
Journal:  Dev Med Child Neurol       Date:  2021-02-04       Impact factor: 5.449

Review 8.  Angelman syndrome: review of clinical and molecular aspects.

Authors:  Lynne M Bird
Journal:  Appl Clin Genet       Date:  2014-05-16

9.  A genome-wide enhancer/suppressor screen for Dube3a interacting genes in Drosophila melanogaster.

Authors:  Kevin A Hope; Addison McGinn; Lawrence T Reiter
Journal:  Sci Rep       Date:  2019-02-20       Impact factor: 4.379

Review 10.  The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders.

Authors:  Barbara J Bailus; David J Segal
Journal:  BMC Neurosci       Date:  2014-06-19       Impact factor: 3.288

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