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Hum Mol Genet. 2011 Dec 15; 20(24): 4797–4809.
Published online 2011 Sep 17. doi: 10.1093/hmg/ddr418
1 CNR Institute of Neuroscience and Department of Pharmacology, University of Milan, 20129 Milan, Italy,
2 Dulbecco Telethon Institute, Rome, Italy,
3 Department of Human Physiology, University of Milan, 20133 Milan, Italy,
4 Department of Biochemistry, College of Life Science and Biotechnology, Yonsei University, 134 Shinchon-dong, Seodaemun-gu, Seoul 120-749, South Korea, and
5 Neuromuscular Diseases and Neuroimmunology, Neurological Institute Foundation ‘Carlo Besta’, 20133 Milan, Italy
* To whom correspondence should be addressed at: CNR Institute of Neuroscience, Via Vanvitelli, 32, 20129 Milano, Italy. Tel: +39 250317096; Fax: +39 27490574; Email: ti.rnc.ni@alas.c
Received 2011 Jul 13; Revised 2011 Aug 27; Accepted 2011 Sep 8.
Copyright © The Author 2011. Published by Oxford University Press
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/2.5 ), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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12. Bahi N., Friocourt G., Carrie A., Graham M.E., Weiss J.L., Chafey P., Fauchereau F., Burgoyne R.D., Chelly J. IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. Hum. Mol. Genet. 2003; 12 :1415–1425. [ PubMed ] [ Google Scholar ]
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Articles from Human Molecular Genetics are provided here courtesy of Oxford University Press
1. Carrie A., Jun L., Bienvenu T., Vinet M.C., McDonell N., Couvert P., Zemni R., Cardona A., Van Buggenhout G., Frints S., et al. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat. Genet. 1999; 23 :25–31. [ PubMed ] [ Google Scholar ] [ Ref list ]
2. Laumonnier F., Shoubridge C., Antar C., Nguyen L.S., Van Esch H., Kleefstra T., Briault S., Fryns J.P., Hamel B., Chelly J., et al. Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. Mol. Psychiatry. 2010; 15 :767–776. [ PubMed ] [ Google Scholar ] [ Ref list ]
4. Kumar R.A., Christian S.L. Genetics of autism spectrum disorders. Curr. Neurol. Neurosci. Rep. 2009; 9 :188–197. [ PubMed ] [ Google Scholar ] [ Ref list ]
5. Behnecke A., Hinderhofer K., Bartsch O., Nümann A., Ipach M.L., Damatova N., Haaf T., Dufke A., Riess O., Moog U. Intragenic deletions of IL1RAPL1: report of two cases and review of the literature. Am. J. Med. Genet. A. 2011; 155A :372–379. [ PubMed ] [ Google Scholar ] [ Ref list ]
11. Zhang Z., Yagi M., Okizuka Y., Awano H., Takeshima Y., Matsuo M. Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene. J. Hum. Genet. 2009; 54 :466–473. [ PubMed ] [ Google Scholar ] [ Ref list ]
12. Bahi N., Friocourt G., Carrie A., Graham M.E., Weiss J.L., Chafey P., Fauchereau F., Burgoyne R.D., Chelly J. IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. Hum. Mol. Genet. 2003; 12 :1415–1425. [ PubMed ] [ Google Scholar ] [ Ref list ]
13. Gambino F., Pavlowsky A., Béglé A., Dupont J.L., Bahi N., Courjaret R., Gardette R., Hadjkacem H., Skala H., Poulain B., et al. IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca 2+ -channel and neurite elongation. Proc. Natl Acad. Sci. USA. 2007; 104 :9063–9068. [ PMC free article ] [ PubMed ] [ Google Scholar ] [ Ref list ]
14. Pavlowsky A., Gianfelice A., Pallotto M., Zanchi A., Vara H., Khelfaoui M., Valnegri P., Rezai X., Bassani S., Brambilla D., et al. A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation. Curr. Biol. 2010; 20 :103–115. [ PubMed ] [ Google Scholar ] [ Ref list ]
35. Phillips G.R., Huang J.K., Wang Y., Tanaka H., Shapiro L., Zhang W., Shan W.S., Arndt K., Frank M., Gordon R.E., et al. The presynaptic particle web: ultrastructure, composition, dissolution, and reconstitution. Neuron. 2001; 32 :63–77. [ PubMed ] [ Google Scholar ] [ Ref list ]
15. Woo J., Kwon S.K., Choi S., Kim S., Lee J.R., Dunah A.W., Sheng M., Kim E. Trans-synaptic adhesion between NGL-3 and LAR regulates the formation of excitatory synapses. Nat. Neurosci. 2009; 12 :428–437. [ PubMed ] [ Google Scholar ] [ Ref list ]
16. Washburn M.P., Wolters D., Yates J.R. Large-scale analysis of the yeast proteome by multidimensional protein identification technology. Nat. Biotechnol. 2001; 19 :242–247. [ PubMed ] [ Google Scholar ] [ Ref list ]
17. Yamagata M., Sanes J.R., Weiner J.A. Synaptic adhesion molecules. Curr. Opin. Cell Biol. 2003; 15 :621–632. [ PubMed ] [ Google Scholar ] [ Ref list ]
18. Johnson K.G., Van Vactor D. Receptor protein tyrosine phosphatases in nervous system development. Physiol. Rev. 2003; 83 :1–24. [ PubMed ] [ Google Scholar ] [ Ref list ]
19. Kwon S.K., Woo J., Kim S.Y., Kim H., Kim E. Trans-synaptic adhesions between netrin-G ligand-3 (NGL-3) and receptor tyrosine phosphatases LAR, protein-tyrosine phosphatase delta (PTPdelta), and PTPsigma via specific domains regulate excitatory synapse formation. J. Biol. Chem. 2010; 285 :13966–13978. [ PMC free article ] [ PubMed ] [ Google Scholar ] [ Ref list ]
20. Takahashi H., Arstikaitis P., Prasad T., Bartlett T.E., Wang Y.T., Murphy T.H., Craig A.M. Postsynaptic TrkC and presynaptic PTPσ function as a bidirectional excitatory synaptic organizing complex. Neuron. 2011; 69 :287–303. [ PMC free article ] [ PubMed ] [ Google Scholar ] [ Ref list ]
21. Sanz-Moreno V., Gadea G., Ahn J., Paterson H., Marra P., Pinner S., Sahai E., Marshall C.J. Rac activation and inactivation control plasticity of tumor cell movement. Cell. 2008; 135 :510–523. [ PubMed ] [ Google Scholar ] [ Ref list ]
22. Jaffe A.B., Hall A. Rho GTPases: biochemistry and biology. Annu. Rev. Cell Dev. Biol. 2005; 21 :247–269. [ PubMed ] [ Google Scholar ] [ Ref list ]
23. Govek E.E., Newey S.E., Van Aelst L. The role of the Rho GTPases in neuronal development. Genes Dev. 2005; 19 :1–49. [ PubMed ] [ Google Scholar ] [ Ref list ]
24. G
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