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Loss of Tankyrase-mediated destruction of 3BP2 is the underlying pathogenic mechanism of cherubism.

Levaot N, Voytyuk O, Dimitriou I, Sircoulomb F, Chandrakumar A, Deckert M, Krzyzanowski PM, Scotter A, Gu S, Janmohamed S, Cong F, Simoncic PD, Ueki Y, La Rose J, Rottapel R.

Cell. 2011 Dec 9;147(6):1324-39. doi: 10.1016/j.cell.2011.10.045.


SH3BP2 cherubism mutation potentiates TNF-α-induced osteoclastogenesis via NFATc1 and TNF-α-mediated inflammatory bone loss.

Mukai T, Ishida S, Ishikawa R, Yoshitaka T, Kittaka M, Gallant R, Lin YL, Rottapel R, Brotto M, Reichenberger EJ, Ueki Y.

J Bone Miner Res. 2014 Dec;29(12):2618-35. doi: 10.1002/jbmr.2295.


Enhancement of B-cell receptor signaling by a point mutation of adaptor protein 3BP2 identified in human inherited disease cherubism.

Ogi K, Nakashima K, Chihara K, Takeuchi K, Horiguchi T, Fujieda S, Sada K.

Genes Cells. 2011 Sep;16(9):951-60. doi: 10.1111/j.1365-2443.2011.01539.x. Epub 2011 Jul 28.


Adaptor protein 3BP2 and cherubism.

Hatani T, Sada K.

Curr Med Chem. 2008;15(6):549-54. Review.


Point mutations of 3BP2 identified in human-inherited disease cherubism result in the loss of function.

Miah SM, Hatani T, Qu X, Yamamura H, Sada K.

Genes Cells. 2004 Nov;9(11):993-1004.


[Molecular and Cellular Pathogenesis of Cherubism].

Ueki Y.

Clin Calcium. 2016 Jun;26(6):918-26. doi: CliCa1606918926. Japanese.


Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice.

Ueki Y, Lin CY, Senoo M, Ebihara T, Agata N, Onji M, Saheki Y, Kawai T, Mukherjee PM, Reichenberger E, Olsen BR.

Cell. 2007 Jan 12;128(1):71-83.


Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism.

Yoshitaka T, Mukai T, Kittaka M, Alford LM, Masrani S, Ishida S, Yamaguchi K, Yamada M, Mizuno N, Olsen BR, Reichenberger EJ, Ueki Y.

Cell Rep. 2014 Sep 25;8(6):1752-66. doi: 10.1016/j.celrep.2014.08.023. Epub 2014 Sep 15.


Tyrosine phosphorylation of 3BP2 is indispensable for the interaction with VAV3 in chicken DT40 cells.

Chihara K, Kimura Y, Honjoh C, Yamauchi S, Takeuchi K, Sada K.

Exp Cell Res. 2014 Mar 10;322(1):99-107. doi: 10.1016/j.yexcr.2013.12.026. Epub 2014 Jan 6.


Structural basis and sequence rules for substrate recognition by Tankyrase explain the basis for cherubism disease.

Guettler S, LaRose J, Petsalaki E, Gish G, Scotter A, Pawson T, Rottapel R, Sicheri F.

Cell. 2011 Dec 9;147(6):1340-54. doi: 10.1016/j.cell.2011.10.046. Erratum in: Cell. 2012 Jan 20;148(1-2):376.


Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages.

Prod'Homme V, Boyer L, Dubois N, Mallavialle A, Munro P, Mouska X, Coste I, Rottapel R, Tartare-Deckert S, Deckert M.

J Clin Invest. 2015 Apr;125(4):1396-400. doi: 10.1172/JCI71081. Epub 2015 Feb 23.


Etanercept administration to neonatal SH3BP2 knock-in cherubism mice prevents TNF-α-induced inflammation and bone loss.

Yoshitaka T, Ishida S, Mukai T, Kittaka M, Reichenberger EJ, Ueki Y.

J Bone Miner Res. 2014;29(5):1170-82. doi: 10.1002/jbmr.2125.


Jawing about TNF: new hope for cherubism.

Novack DV, Faccio R.

Cell. 2007 Jan 12;128(1):15-7.


[The adaptor protein 3BP2 in leukocyte signaling].

Deckert M.

Med Sci (Paris). 2006 Dec;22(12):1081-6. Review. French.


3BP2 adapter protein is required for receptor activator of NFκB ligand (RANKL)-induced osteoclast differentiation of RAW264.7 cells.

GuezGuez A, Prod'homme V, Mouska X, Baudot A, Blin-Wakkach C, Rottapel R, Deckert M.

J Biol Chem. 2010 Jul 2;285(27):20952-63. doi: 10.1074/jbc.M109.091124. Epub 2010 May 3.


The role of SH3BP2 in the pathophysiology of cherubism.

Reichenberger EJ, Levine MA, Olsen BR, Papadaki ME, Lietman SA.

Orphanet J Rare Dis. 2012 May 24;7 Suppl 1:S5. doi: 10.1186/1750-1172-7-S1-S5. Epub 2012 May 24. Review.


The adaptor protein 3BP2 associates with VAV guanine nucleotide exchange factors to regulate NFAT activation by the B-cell antigen receptor.

Foucault I, Le Bras S, Charvet C, Moon C, Altman A, Deckert M.

Blood. 2005 Feb 1;105(3):1106-13. Epub 2004 Sep 2.


The adaptor 3BP2 activates CD244-mediated cytotoxicity in PKC- and SAP-dependent mechanisms.

Saborit-Villarroya I, Martinez-Barriocanal A, Oliver-Vila I, Engel P, Sayos J, Martin M.

Mol Immunol. 2008 Jul;45(12):3446-53. doi: 10.1016/j.molimm.2008.03.021. Epub 2008 May 13.


3BP2-deficient mice are osteoporotic with impaired osteoblast and osteoclast functions.

Levaot N, Simoncic PD, Dimitriou ID, Scotter A, La Rose J, Ng AH, Willett TL, Wang CJ, Janmohamed S, Grynpas M, Reichenberger E, Rottapel R.

J Clin Invest. 2011 Aug;121(8):3244-57. doi: 10.1172/JCI45843. Epub 2011 Jul 18.


Ubiquitin ligase RNF146 regulates tankyrase and Axin to promote Wnt signaling.

Callow MG, Tran H, Phu L, Lau T, Lee J, Sandoval WN, Liu PS, Bheddah S, Tao J, Lill JR, Hongo JA, Davis D, Kirkpatrick DS, Polakis P, Costa M.

PLoS One. 2011;6(7):e22595. doi: 10.1371/journal.pone.0022595. Epub 2011 Jul 25.

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