Literature DB >> 22190038

Angelman syndrome: Drugs to awaken a paternal gene.

Arthur L Beaudet.   

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Year:  2011        PMID： 22190038      PMCID： PMC3638729          DOI： 10.1038/nature10784

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  5 in total

1.  A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.

Authors:  Lynne M Bird; Wen-Hann Tan; Carlos A Bacino; Sarika U Peters; Steven A Skinner; Irina Anselm; Rene Barbieri-Welge; Astrid Bauer-Carlin; Jennifer K Gentile; Daniel G Glaze; Lucia T Horowitz; K Naga Mohan; Mark P Nespeca; Trilochan Sahoo; Dean Sarco; Susan E Waisbren; Arthur L Beaudet
Journal:  Am J Med Genet A       Date:  2011-10-14       Impact factor: 2.802

2.  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

3.  Intrathecal topotecan in adult patients with neoplastic meningitis.

Authors:  David C Gammon; Mansi S Bhatt; Lan Tran; Alexis Van Horn; Matthew Benvenuti; Michael J Glantz
Journal:  Am J Health Syst Pharm       Date:  2006-11-01       Impact factor: 2.637

4.  Reversal of neurological defects in a mouse model of Rett syndrome.

Authors:  Jacky Guy; Jian Gan; Jim Selfridge; Stuart Cobb; Adrian Bird
Journal:  Science       Date:  2007-02-08       Impact factor: 47.728

Review 5.  Clinical and genetic aspects of Angelman syndrome.

Authors:  Charles A Williams; Daniel J Driscoll; Aditi I Dagli
Journal:  Genet Med       Date:  2010-07       Impact factor: 8.822
  5 in total
  7 in total

1.  Topoisomerase 1 inhibition reversibly impairs synaptic function.

Authors:  Angela M Mabb; Paul H M Kullmann; Margaret A Twomey; Jayalakshmi Miriyala; Benjamin D Philpot; Mark J Zylka
Journal:  Proc Natl Acad Sci U S A       Date:  2014-11-17       Impact factor: 11.205

2.  Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.

Authors:  Sara Silva-Santos; Geeske M van Woerden; Caroline F Bruinsma; Edwin Mientjes; Mehrnoush Aghadavoud Jolfaei; Ben Distel; Steven A Kushner; Ype Elgersma
Journal:  J Clin Invest       Date:  2015-04-13       Impact factor: 14.808

3.  R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation.

Authors:  Weston T Powell; Rochelle L Coulson; Michael L Gonzales; Florence K Crary; Spencer S Wong; Sarrita Adams; Robert A Ach; Peter Tsang; Nazumi Alice Yamada; Dag H Yasui; Frédéric Chédin; Janine M LaSalle
Journal:  Proc Natl Acad Sci U S A       Date:  2013-08-05       Impact factor: 11.205

4.  Allele and dosage specificity of the Peg3 imprinted domain.

Authors:  Corey L Bretz; Wesley D Frey; Ryoichi Teruyama; Joomyeong Kim
Journal:  PLoS One       Date:  2018-05-07       Impact factor: 3.240

5.  Synaptic plasticity in mouse models of autism spectrum disorders.

Authors:  Leeyup Chung; Alexandra L Bey; Yong-Hui Jiang
Journal:  Korean J Physiol Pharmacol       Date:  2012-12-10       Impact factor: 2.016

6.  Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome.

Authors:  E L Berg; M C Pride; S P Petkova; R D Lee; N A Copping; Y Shen; A Adhikari; T A Fenton; L R Pedersen; L S Noakes; B J Nieman; J P Lerch; S Harris; H A Born; M M Peters; P Deng; D L Cameron; K D Fink; U Beitnere; H O'Geen; A E Anderson; S V Dindot; K R Nash; E J Weeber; M Wöhr; J Ellegood; D J Segal; J L Silverman
Journal:  Transl Psychiatry       Date:  2020-01-27       Impact factor: 6.222

Review 7.  Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.

Authors:  Nycole A Copping; Stephanie M McTighe; Kyle D Fink; Jill L Silverman
Journal:  Neurotherapeutics       Date:  2021-09-15       Impact factor: 7.620
  7 in total

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