Beaudet AL - Search Results

1

Human disorders of ubiquitination and proteasomal degradation.

Jiang YH, Beaudet AL. Jiang YH, et al. Among authors: beaudet al. Curr Opin Pediatr. 2004 Aug;16(4):419-26. doi: 10.1097/01.mop.0000133634.79661.cd. Curr Opin Pediatr. 2004. PMID: 15273504 Review.

2

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

3

The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.

Sutcliffe JS, Jiang YH, Galijaard RJ, Matsuura T, Fang P, Kubota T, Christian SL, Bressler J, Cattanach B, Ledbetter DH, Beaudet AL. Sutcliffe JS, et al. Among authors: beaudet al. Genome Res. 1997 Apr;7(4):368-77. doi: 10.1101/gr.7.4.368. Genome Res. 1997. PMID: 9110176 Free PMC article.

4

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.

5

Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.

Jiang YH, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, Sweatt JD, Beaudet AL. Jiang YH, et al. Among authors: beaudet al. Neuron. 1998 Oct;21(4):799-811. doi: 10.1016/s0896-6273(00)80596-6. Neuron. 1998. PMID: 9808466 Free article.

6

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

7

Genetics of Angelman syndrome.

Jiang Y, Lev-Lehman E, Bressler J, Tsai TF, Beaudet AL. Jiang Y, et al. Among authors: beaudet al. Am J Hum Genet. 1999 Jul;65(1):1-6. doi: 10.1086/302473. Am J Hum Genet. 1999. PMID: 10364509 Free PMC article. Review. No abstract available.

8

Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome.

Tsai TF, Jiang YH, Bressler J, Armstrong D, Beaudet AL. Tsai TF, et al. Among authors: beaudet al. Hum Mol Genet. 1999 Aug;8(8):1357-64. doi: 10.1093/hmg/8.8.1357. Hum Mol Genet. 1999. PMID: 10400982

9

Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice.

Cummings CJ, Reinstein E, Sun Y, Antalffy B, Jiang Y, Ciechanover A, Orr HT, Beaudet AL, Zoghbi HY. Cummings CJ, et al. Among authors: beaudet al. Neuron. 1999 Dec;24(4):879-92. doi: 10.1016/s0896-6273(00)81035-1. Neuron. 1999. PMID: 10624951 Free article.

10

Genetic ablation of the steroid receptor coactivator-ubiquitin ligase, E6-AP, results in tissue-selective steroid hormone resistance and defects in reproduction.

Smith CL, DeVera DG, Lamb DJ, Nawaz Z, Jiang YH, Beaudet AL, O'Malley BW. Smith CL, et al. Among authors: beaudet al. Mol Cell Biol. 2002 Jan;22(2):525-35. doi: 10.1128/MCB.22.2.525-535.2002. Mol Cell Biol. 2002. PMID: 11756548 Free PMC article.

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