NEUROSCIENCE Angelman syndrome connections

被引：12

作者：

Scheiffele, Peter ^{[1
]}

Beg, Asim A. ^{[2
]}

机构：

[1] Univ Basel, Biozentrum, CH-4056 Basel, Switzerland

[2] Univ Michigan, Dept Pharmacol, Ann Arbor, MI 48109 USA

来源：

NATURE | 2010年 / 468卷 / 7326期

关键词：

MOUSE MODEL; DEFICITS;

D O I：

10.1038/468907a

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Neuronal networks in the brain that develop early in life underlie our ability to learn, remember and communicate. Genetic defects that perturb the fine-tuning of such neuronal connectivity can cause disease.

引用

页码：907 / 908

页数：2

共 8 条

[1] Arc/Arg3.1 interacts with the endocytic machinery to regulate AMPA receptor trafficking [J].

Chowdhury, Shoaib ;

Shepherd, Jason D. ;

Okuno, Hiroyuki ;

Lyford, Gregory ;

Petralia, Ronald S. ;

Plath, Niels ;

Kuhl, Dietmar ;

Huganir, Richard L. ;

Worley, Paul F. .

NEURON, 2006, 52 (03) :445-459

[2] The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc [J].

Greer, Paul L. ;

Hanayama, Rikinari ;

Bloodgood, Brenda L. ;

Mardinly, Alan R. ;

Lipton, David M. ;

Flavell, Steven W. ;

Kim, Tae-Kyung ;

Griffith, Eric C. ;

Waldon, Zachary ;

Maehr, Rene ;

Ploegh, Hidde L. ;

Chowdhury, Shoaib ;

Worley, Paul F. ;

Steen, Judith ;

Greenberg, Michael E. .

CELL, 2010, 140 (05) :704-716

[3] Mutation of the angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation [J].

Jiang, YH ;

Armstrong, D ;

Albrecht, U ;

Atkins, CM ;

Noebels, JL ;

Eichele, G ;

Sweatt, JD ;

Beaudet, AL .

NEURON, 1998, 21 (04) :799-811

[4] EphB-Mediated Degradation of the RhoA GEF Ephexin5 Relieves a Developmental Brake on Excitatory Synapse Formation [J].

Margolis, Seth S. ;

Salogiannis, John ;

Lipton, David M. ;

Mandel-Brehm, Caleigh ;

Wills, Zachary P. ;

Mardinly, Alan R. ;

Hu, Linda ;

Greer, Paul L. ;

Bikoff, Jay B. ;

Ho, Hsin-Yi Henry ;

Soskis, Michael J. ;

Sahin, Mustafa ;

Greenberg, Michael E. .

CELL, 2010, 143 (03) :442-455

[5] Abnormal Behavior in a Chromosome-Engineered Mouse Model for Human 15q11-13 Duplication Seen in Autism [J].

Nakatani, Jin ;

Tamada, Kota ;

Hatanaka, Fumiyuki ;

Ise, Satoko ;

Ohta, Hisashi ;

Inoue, Kiyoshi ;

Tomonaga, Shozo ;

Watanabe, Yasuhito ;

Chung, Yeun Jun ;

Banerjee, Ruby ;

Iwamoto, Kazuya ;

Kato, Tadafumi ;

Okazawa, Makoto ;

Yamauchi, Kenta ;

Tanda, Koichi ;

Takao, Keizo ;

Miyakawa, Tsuyoshi ;

Bradley, Allan ;

Takumi, Toru .

CELL, 2009, 137 (07) :1235-1246

[6] Genome organization, function and imprinting in Prader-Willi and Angelman syndromes [J].

Nicholls, RD ;

Knepper, JL .

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2001, 2 :153-175

[7] Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation [J].

van Woerden, Geeske M. ;

Harris, Karen D. ;

Hojjati, Mohammad Reza ;

Gustin, Richard M. ;

Qiu, Shenfeng ;

Freire, Rogerio de Avila ;

Jiang, Yong-hui ;

Elgersma, Ype ;

Weeber, Edwin J. .

NATURE NEUROSCIENCE, 2007, 10 (03) :280-282

[8] Angelman syndrome 2005: Updated consensus for diagnostic criteria [J].

Williams, CA ;

Beaudet, AL ;

Clayton-Smith, J ;

Knoll, JH ;

Kyllerman, M ;

Laan, LA ;

Magenis, RE ;

Moncla, A ;

Schinzel, AA ;

Summers, JA ;

Wagstaff, J .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (05) :413-418

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