Literature DB >> 26432241

Neurodevelopmental disease: A molecular tightrope.

Ype Elgersma1.   

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Year:  2015        PMID： 26432241     DOI： 10.1038/526050b

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


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  11 in total

1.  Physical and functional interaction of the HECT ubiquitin-protein ligases E6AP and HERC2.

Authors:  Simone Kühnle; Ulrike Kogel; Sandra Glockzin; Andreas Marquardt; Aaron Ciechanover; Konstantin Matentzoglu; Martin Scheffner
Journal:  J Biol Chem       Date:  2011-04-14       Impact factor: 5.157

Review 2.  The behavioral phenotype of the Angelman syndrome.

Authors:  Charles A Williams
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-11-15       Impact factor: 3.908

3.  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

4.  UBE3A/E6-AP mutations cause Angelman syndrome.

Authors:  T Kishino; M Lalande; J Wagstaff
Journal:  Nat Genet       Date:  1997-01       Impact factor: 38.330

5.  Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.

Authors:  U Albrecht; J S Sutcliffe; B M Cattanach; C V Beechey; D Armstrong; G Eichele; A L Beaudet
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

6.  15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.

Authors:  Abdul Noor; Lucie Dupuis; Kirti Mittal; Anath C Lionel; Christian R Marshall; Stephen W Scherer; Tracy Stockley; John B Vincent; Roberto Mendoza-Londono; Dimitri J Stavropoulos
Journal:  Hum Mutat       Date:  2015-07       Impact factor: 4.878

7.  The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53.

Authors:  M Scheffner; J M Huibregtse; R D Vierstra; P M Howley
Journal:  Cell       Date:  1993-11-05       Impact factor: 41.582

Review 8.  The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.

Authors:  Amber Hogart; David Wu; Janine M LaSalle; N Carolyn Schanen
Journal:  Neurobiol Dis       Date:  2008-09-18       Impact factor: 5.996

9.  An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.

Authors:  Jason J Yi; Janet Berrios; Jason M Newbern; William D Snider; Benjamin D Philpot; Klaus M Hahn; Mark J Zylka
Journal:  Cell       Date:  2015-08-06       Impact factor: 41.582

10.  The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.

Authors:  Nora Urraca; Julie Cleary; Victoria Brewer; Eniko K Pivnick; Kathryn McVicar; Ronald L Thibert; N Carolyn Schanen; Carmen Esmer; Dustin Lamport; Lawrence T Reiter
Journal:  Autism Res       Date:  2013-03-14       Impact factor: 5.216
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  5 in total

1.  Adult Ube3a Gene Reinstatement Restores the Electrophysiological Deficits of Prefrontal Cortex Layer 5 Neurons in a Mouse Model of Angelman Syndrome.

Authors:  Diana C Rotaru; Geeske M van Woerden; Ilse Wallaard; Ype Elgersma
Journal:  J Neurosci       Date:  2018-08-06       Impact factor: 6.167

Review 2.  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

3.  Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes.

Authors:  Monica Sonzogni; Johanna Hakonen; Mireia Bernabé Kleijn; Sara Silva-Santos; Matthew C Judson; Benjamin D Philpot; Geeske M van Woerden; Ype Elgersma
Journal:  Mol Autism       Date:  2019-05-22       Impact factor: 7.509

4.  The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons.

Authors:  Ilaria Tonazzini; Geeske M Van Woerden; Cecilia Masciullo; Edwin J Mientjes; Ype Elgersma; Marco Cecchini
Journal:  Mol Autism       Date:  2019-11-29       Impact factor: 7.509

5.  Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.

Authors:  F Isabella Zampeta; Monica Sonzogni; Eva Niggl; Bas Lendemeijer; Hilde Smeenk; Femke M S de Vrij; Steven A Kushner; Ben Distel; Ype Elgersma
Journal:  Hum Mol Genet       Date:  2020-11-04       Impact factor: 6.150
  5 in total

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