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Results: 1 to 20 of 67

1.

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

Bailus BJ, Segal DJ.

BMC Neurosci. 2014 Jun 19;15:76. doi: 10.1186/1471-2202-15-76.

PMID:
24946931
[PubMed - in process]
Free PMC Article
2.

Angelman syndrome: review of clinical and molecular aspects.

Bird LM.

Appl Clin Genet. 2014 May 16;7:93-104. doi: 10.2147/TACG.S57386. eCollection 2014. Review.

PMID:
24876791
[PubMed]
Free PMC Article
3.

Genome-wide histone state profiling of fibroblasts from the opossum, Monodelphis domestica, identifies the first marsupial-specific imprinted gene.

Douglas KC, Wang X, Jasti M, Wolff A, VandeBerg JL, Clark AG, Samollow PB.

BMC Genomics. 2014 Jan 31;15:89. doi: 10.1186/1471-2164-15-89.

PMID:
24484454
[PubMed - in process]
Free PMC Article
4.

Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model.

Meng L, Person RE, Huang W, Zhu PJ, Costa-Mattioli M, Beaudet AL.

PLoS Genet. 2013;9(12):e1004039. doi: 10.1371/journal.pgen.1004039. Epub 2013 Dec 26.

PMID:
24385930
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Psychiatric illness and intellectual disability in the Prader-Willi syndrome with different molecular defects--a meta analysis.

Yang L, Zhan GD, Ding JJ, Wang HJ, Ma D, Huang GY, Zhou WH.

PLoS One. 2013 Aug 14;8(8):e72640. doi: 10.1371/journal.pone.0072640. eCollection 2013.

PMID:
23967326
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Proteomic profiling in Drosophila reveals potential Dube3a regulation of the actin cytoskeleton and neuronal homeostasis.

Jensen L, Farook MF, Reiter LT.

PLoS One. 2013 Apr 23;8(4):e61952. doi: 10.1371/journal.pone.0061952. Print 2013.

PMID:
23626758
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Modeling autism by SHANK gene mutations in mice.

Jiang YH, Ehlers MD.

Neuron. 2013 Apr 10;78(1):8-27. doi: 10.1016/j.neuron.2013.03.016. Review.

PMID:
23583105
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Neocortical development as an evolutionary platform for intragenomic conflict.

Lewitus E, Kalinka AT.

Front Neuroanat. 2013 Apr 9;7:2. doi: 10.3389/fnana.2013.00002. eCollection 2013.

PMID:
23576960
[PubMed]
Free PMC Article
9.

Altered social behavior and neuronal development in mice lacking the Uba6-Use1 ubiquitin transfer system.

Lee PC, Dodart JC, Aron L, Finley LW, Bronson RT, Haigis MC, Yankner BA, Harper JW.

Mol Cell. 2013 Apr 25;50(2):172-84. doi: 10.1016/j.molcel.2013.02.014. Epub 2013 Mar 14.

PMID:
23499007
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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

Urraca N, Cleary J, Brewer V, Pivnick EK, McVicar K, Thibert RL, Schanen NC, Esmer C, Lamport D, Reiter LT.

Autism Res. 2013 Aug;6(4):268-79. doi: 10.1002/aur.1284. Epub 2013 Mar 14.

PMID:
23495136
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Breaking it down: the ubiquitin proteasome system in neuronal morphogenesis.

Hamilton AM, Zito K.

Neural Plast. 2013;2013:196848. doi: 10.1155/2013/196848. Epub 2013 Feb 14. Review.

PMID:
23476809
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation.

Condon KH, Ho J, Robinson CG, Hanus C, Ehlers MD.

J Neurosci. 2013 Feb 27;33(9):3799-814. doi: 10.1523/JNEUROSCI.1930-11.2013.

PMID:
23447592
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Impairment of TrkB-PSD-95 signaling in Angelman syndrome.

Cao C, Rioult-Pedotti MS, Migani P, Yu CJ, Tiwari R, Parang K, Spaller MR, Goebel DJ, Marshall J.

PLoS Biol. 2013;11(2):e1001478. doi: 10.1371/journal.pbio.1001478. Epub 2013 Feb 12.

PMID:
23424281
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Spatial organization of ubiquitin ligase pathways orchestrates neuronal connectivity.

Yamada T, Yang Y, Bonni A.

Trends Neurosci. 2013 Apr;36(4):218-26. doi: 10.1016/j.tins.2012.12.004. Epub 2013 Jan 17. Review.

PMID:
23332798
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Behavioral deficits in an Angelman syndrome model: effects of genetic background and age.

Huang HS, Burns AJ, Nonneman RJ, Baker LK, Riddick NV, Nikolova VD, Riday TT, Yashiro K, Philpot BD, Moy SS.

Behav Brain Res. 2013 Apr 15;243:79-90. doi: 10.1016/j.bbr.2012.12.052. Epub 2013 Jan 4.

PMID:
23295389
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implications.

Guerra DJ.

Autism Res Treat. 2011;2011:398636. doi: 10.1155/2011/398636. Epub 2011 May 17.

PMID:
22937247
[PubMed]
Free PMC Article
17.

Altered serotonin, dopamine and norepinepherine levels in 15q duplication and Angelman syndrome mouse models.

Farook MF, DeCuypere M, Hyland K, Takumi T, LeDoux MS, Reiter LT.

PLoS One. 2012;7(8):e43030. doi: 10.1371/journal.pone.0043030. Epub 2012 Aug 16.

PMID:
22916201
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Understanding the pathogenesis of Angelman syndrome through animal models.

Jana NR.

Neural Plast. 2012;2012:710943. doi: 10.1155/2012/710943. Epub 2012 Jul 8. Review.

PMID:
22830052
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Dysfunction of the ubiquitin ligase Ube3a may be associated with synaptic pathophysiology in a mouse model of Huntington disease.

Maheshwari M, Samanta A, Godavarthi SK, Mukherjee R, Jana NR.

J Biol Chem. 2012 Aug 24;287(35):29949-57. doi: 10.1074/jbc.M112.371724. Epub 2012 Jul 11.

PMID:
22787151
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Molecular and Clinical Aspects of Angelman Syndrome.

Dagli A, Buiting K, Williams CA.

Mol Syndromol. 2012 Apr;2(3-5):100-112. Epub 2011 Jul 28.

PMID:
22670133
[PubMed]
Free PMC Article

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