Beaudet AL - Search Results

1

Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.

Meng L, Ward AJ, Chun S, Bennett CF, Beaudet AL, Rigo F. Meng L, et al. Among authors: beaudet al. Nature. 2015 Feb 19;518(7539):409-12. doi: 10.1038/nature13975. Epub 2014 Dec 1. Nature. 2015. PMID: 25470045 Free PMC article.

2

Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.

Meng L, Person RE, Beaudet AL. Meng L, et al. Among authors: beaudet al. Hum Mol Genet. 2012 Jul 1;21(13):3001-12. doi: 10.1093/hmg/dds130. Epub 2012 Apr 5. Hum Mol Genet. 2012. PMID: 22493002 Free PMC article.

3

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. Meng L, et al. Among authors: beaudet al. PLoS Genet. 2013;9(12):e1004039. doi: 10.1371/journal.pgen.1004039. Epub 2013 Dec 26. PLoS Genet. 2013. PMID: 24385930 Free PMC article.

4

Gene-targeting pharmaceuticals for single-gene disorders.

Beaudet AL, Meng L. Beaudet AL, et al. Hum Mol Genet. 2016 Apr 15;25(R1):R18-26. doi: 10.1093/hmg/ddv476. Epub 2015 Nov 30. Hum Mol Genet. 2016. PMID: 26628634 Free PMC article. Review.

5

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL. Matsuura T, et al. Among authors: beaudet al. Nat Genet. 1997 Jan;15(1):74-7. doi: 10.1038/ng0197-74. Nat Genet. 1997. PMID: 8988172

6

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

Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL. Albrecht U, et al. Among authors: beaudet al. Nat Genet. 1997 Sep;17(1):75-8. doi: 10.1038/ng0997-75. Nat Genet. 1997. PMID: 9288101

7

Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.

Peters SU, Bird LM, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, Barbieri-Welge R, Nespeca M, Anselm I, Waisbren S, Sanborn E, Sun Q, O'Brien WE, Beaudet AL, Bacino CA. Peters SU, et al. Among authors: beaudet al. Am J Med Genet A. 2010 Aug;152A(8):1994-2001. doi: 10.1002/ajmg.a.33509. Am J Med Genet A. 2010. PMID: 20635355 Free PMC article. Clinical Trial.

8

Imprinting in Angelman and Prader-Willi syndromes.

Jiang Y, Tsai TF, Bressler J, Beaudet AL. Jiang Y, et al. Among authors: beaudet al. Curr Opin Genet Dev. 1998 Jun;8(3):334-42. doi: 10.1016/s0959-437x(98)80091-9. Curr Opin Genet Dev. 1998. PMID: 9691003 Review.

9

The spectrum of mutations in UBE3A causing Angelman syndrome.

Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM Jr, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL. Fang P, et al. Among authors: beaudet al. Hum Mol Genet. 1999 Jan;8(1):129-35. doi: 10.1093/hmg/8.1.129. Hum Mol Genet. 1999. PMID: 9887341

10

The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice.

Bressler J, Tsai TF, Wu MY, Tsai SF, Ramirez MA, Armstrong D, Beaudet AL. Bressler J, et al. Among authors: beaudet al. Nat Genet. 2001 Jul;28(3):232-40. doi: 10.1038/90067. Nat Genet. 2001. PMID: 11431693

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