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Items: 1 to 20 of 747

1.

Prenatal Treatment Path for Angelman Syndrome and Other Neurodevelopmental Disorders.

Zylka MJ.

Autism Res. 2019 Sep 6. doi: 10.1002/aur.2203. [Epub ahead of print]

PMID:
31490639
2.

HAP1 is an in vivo UBE3A target that augments autophagy in a mouse model of Angelman syndrome.

Wang T, Wang J, Wang J, Mao L, Tang B, Vanderklish PW, Liao X, Xiong ZQ, Liao L.

Neurobiol Dis. 2019 Aug 21;132:104585. doi: 10.1016/j.nbd.2019.104585. [Epub ahead of print]

PMID:
31445164
3.

α1-Na/K-ATPase inhibition rescues aberrant dendritic calcium dynamics and memory deficits in the hippocampus of an Angelman syndrome mouse model.

Rayi PR, Koyavski L, Chakraborty D, Bagrov A, Kaphzan H.

Prog Neurobiol. 2019 Aug 8:101676. doi: 10.1016/j.pneurobio.2019.101676. [Epub ahead of print]

PMID:
31401139
4.

Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome.

Carson RP, Bird L, Childers AK, Wheeler F, Duis J.

Mol Genet Genomic Med. 2019 Sep;7(9):e837. doi: 10.1002/mgg3.837. Epub 2019 Aug 10.

5.

Effects of Stuffer DNA on the Suppression of Choroidal Neovascularization by a rAAV Expressing a mTOR-Inhibiting shRNA.

Lee SHS, Chang H, Kim HJ, Choi JS, Kim J, Kim JH, Woo HN, Nah SK, Jung SJ, Lee JY, Park K, Park TK, Lee H.

Mol Ther Methods Clin Dev. 2019 Jul 3;14:171-179. doi: 10.1016/j.omtm.2019.06.004. eCollection 2019 Sep 13.

6.

Mechanisms underlying the EEG biomarker in Dup15q syndrome.

Frohlich J, Reiter LT, Saravanapandian V, DiStefano C, Huberty S, Hyde C, Chamberlain S, Bearden CE, Golshani P, Irimia A, Olsen RW, Hipp JF, Jeste SS.

Mol Autism. 2019 Jul 3;10:29. doi: 10.1186/s13229-019-0280-6. eCollection 2019.

7.

Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability.

Borlot F, de Almeida BI, Combe SL, Andrade DM, Filloux FM, Myers KA.

Epilepsia. 2019 Aug;60(8):1661-1669. doi: 10.1111/epi.16273. Epub 2019 Jul 5.

PMID:
31273778
8.

Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.

Avagliano Trezza R, Sonzogni M, Bossuyt SNV, Zampeta FI, Punt AM, van den Berg M, Rotaru DC, Koene LMC, Munshi ST, Stedehouder J, Kros JM, Williams M, Heussler H, de Vrij FMS, Mientjes EJ, van Woerden GM, Kushner SA, Distel B, Elgersma Y.

Nat Neurosci. 2019 Aug;22(8):1235-1247. doi: 10.1038/s41593-019-0425-0. Epub 2019 Jun 24.

PMID:
31235931
9.

Impaired neurodevelopmental pathways in autism spectrum disorder: a review of signaling mechanisms and crosstalk.

Kumar S, Reynolds K, Ji Y, Gu R, Rai S, Zhou CJ.

J Neurodev Disord. 2019 Jun 15;11(1):10. doi: 10.1186/s11689-019-9268-y. Review.

10.

Spaced training improves learning in Ts65Dn and Ube3a mouse models of intellectual disabilities.

Lauterborn JC, Schultz MN, Le AA, Amani M, Friedman AE, Leach PT, Gall CM, Lynch GS, Crawley JN.

Transl Psychiatry. 2019 Jun 10;9(1):166. doi: 10.1038/s41398-019-0495-5.

11.
12.

UBE3A-mediated PTPA ubiquitination and degradation regulate PP2A activity and dendritic spine morphology.

Wang J, Lou SS, Wang T, Wu RJ, Li G, Zhao M, Lu B, Li YY, Zhang J, Cheng X, Shen Y, Wang X, Zhu ZC, Li MJ, Takumi T, Yang H, Yu X, Liao L, Xiong ZQ.

Proc Natl Acad Sci U S A. 2019 Jun 18;116(25):12500-12505. doi: 10.1073/pnas.1820131116. Epub 2019 Jun 3.

PMID:
31160454
13.

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

Sonzogni M, Hakonen J, Bernabé Kleijn M, Silva-Santos S, Judson MC, Philpot BD, van Woerden GM, Elgersma Y.

Mol Autism. 2019 May 22;10:23. doi: 10.1186/s13229-019-0277-1. eCollection 2019.

14.

Detailed Dissection of UBE3A-Mediated DDI1 Ubiquitination.

Elu N, Osinalde N, Beaskoetxea J, Ramirez J, Lectez B, Aloria K, Rodriguez JA, Arizmendi JM, Mayor U.

Front Physiol. 2019 May 3;10:534. doi: 10.3389/fphys.2019.00534. eCollection 2019.

15.

The Autism and Angelman Syndrome Protein Ube3A/E6AP: The Gene, E3 Ligase Ubiquitination Targets and Neurobiological Functions.

Khatri N, Man HY.

Front Mol Neurosci. 2019 Apr 30;12:109. doi: 10.3389/fnmol.2019.00109. eCollection 2019. Review.

16.

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.

Yan H, Shi Z, Wu Y, Xiao J, Gu Q, Yang Y, Li M, Gao K, Chen Y, Yang X, Ji H, Cao B, Duan R, Jiang Y, Wang J.

BMC Med Genet. 2019 May 14;20(1):80. doi: 10.1186/s12881-019-0794-y.

17.

Early-stage paired housing improves social interaction in neuronal Uba6-deficient mice.

Kim MJ, Han KH, Yum MS, Lee PCW.

Biochem Biophys Res Commun. 2019 Jun 25;514(2):545-549. doi: 10.1016/j.bbrc.2019.04.167. Epub 2019 May 3.

PMID:
31060776
18.

[Genetic diagnosis and non-invasive prenatal testing of a fetus with Prader-Willi/Angelman syndrome].

Gao M, Pang H, Shi Y, Feng X, Zhao Y, Hua J, Tong D, Liu J, Wen J, Fan T, Wu L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):543-546. doi: 10.3760/cma.j.issn.1003-9406.2019.06.003. Chinese.

PMID:
31055801
19.

[Recurrent Angelman syndrome caused by a rare partial deletion of UBE3A gene].

Hou Q, Shang T, Li T, Wu D, Guo Q, Chu Y, Yang Y, Liao S.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 May 10;36(5):491-494. doi: 10.3760/cma.j.issn.1003-9406.2019.05.019. Chinese.

PMID:
31030441
20.

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

Balciuniene J, DeChene ET, Akgumus G, Romasko EJ, Cao K, Dubbs HA, Mulchandani S, Spinner NB, Conlin LK, Marsh ED, Goldberg E, Helbig I, Sarmady M, Abou Tayoun A.

JAMA Netw Open. 2019 Apr 5;2(4):e192129. doi: 10.1001/jamanetworkopen.2019.2129.

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