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Items: 1 to 20 of 102

1.

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Manzini MC, Xiong L, Shaheen R, Tambunan DE, Di Costanzo S, Mitisalis V, Tischfield DJ, Cinquino A, Ghaziuddin M, Christian M, Jiang Q, Laurent S, Nanjiani ZA, Rasheed S, Hill RS, Lizarraga SB, Gleason D, Sabbagh D, Salih MA, Alkuraya FS, Walsh CA.

Cell Rep. 2014 Aug 7;8(3):647-55. doi: 10.1016/j.celrep.2014.06.039. Epub 2014 Jul 24.

2.

Protein implicated in nonsyndromic mental retardation regulates protein kinase A (PKA) activity.

Al-Tawashi A, Jung SY, Liu D, Su B, Qin J.

J Biol Chem. 2012 Apr 27;287(18):14644-58. doi: 10.1074/jbc.M111.261875. Epub 2012 Feb 28.

3.

CC2D1A, a DM14 and C2 domain protein, activates NF-kappaB through the canonical pathway.

Zhao M, Li XD, Chen Z.

J Biol Chem. 2010 Aug 6;285(32):24372-80. doi: 10.1074/jbc.M109.100057. Epub 2010 Jun 7.

4.

Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits.

Oaks AW, Zamarbide M, Tambunan DE, Santini E, Di Costanzo S, Pond HL, Johnson MW, Lin J, Gonzalez DM, Boehler JF, Wu GK, Klann E, Walsh CA, Manzini MC.

Cereb Cortex. 2017 Feb 1;27(2):1670-1685. doi: 10.1093/cercor/bhw009.

PMID:
26826102
5.

Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.

Bonora E, Graziano C, Minopoli F, Bacchelli E, Magini P, Diquigiovanni C, Lomartire S, Bianco F, Vargiolu M, Parchi P, Marasco E, Mantovani V, Rampoldi L, Trudu M, Parmeggiani A, Battaglia A, Mazzone L, Tortora G; IMGSAC., Maestrini E, Seri M, Romeo G.

EMBO Mol Med. 2014 Jun;6(6):795-809. doi: 10.1002/emmm.201303235. Epub 2014 Apr 6. Erratum in: EMBO Mol Med. 2014 Dec;6(12):1639.

6.

NF-kappaB site interacts with Sp factors and up-regulates the NR1 promoter during neuronal differentiation.

Liu A, Hoffman PW, Lu W, Bai G.

J Biol Chem. 2004 Apr 23;279(17):17449-58. Epub 2004 Feb 16.

7.

Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.

Srivastava AK, Schwartz CE.

Neurosci Biobehav Rev. 2014 Oct;46 Pt 2:161-74. doi: 10.1016/j.neubiorev.2014.02.015. Epub 2014 Apr 4. Review.

8.

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.

Basel-Vanagaite L, Attia R, Yahav M, Ferland RJ, Anteki L, Walsh CA, Olender T, Straussberg R, Magal N, Taub E, Drasinover V, Alkelai A, Bercovich D, Rechavi G, Simon AJ, Shohat M.

J Med Genet. 2006 Mar;43(3):203-10. Epub 2005 Jul 20.

9.

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais E, Motte J, Colleaux L, Bonnet C, Villard L, Dupont J, Man HY.

Hum Mol Genet. 2013 Aug 15;22(16):3306-14. doi: 10.1093/hmg/ddt187. Epub 2013 Apr 24.

10.

Nuclear factor-(kappa)B modulates the p53 response in neurons exposed to DNA damage.

Aleyasin H, Cregan SP, Iyirhiaro G, O'Hare MJ, Callaghan SM, Slack RS, Park DS.

J Neurosci. 2004 Mar 24;24(12):2963-73.

11.

Regulation of NF-kappaB signaling by Pin1-dependent prolyl isomerization and ubiquitin-mediated proteolysis of p65/RelA.

Ryo A, Suizu F, Yoshida Y, Perrem K, Liou YC, Wulf G, Rottapel R, Yamaoka S, Lu KP.

Mol Cell. 2003 Dec;12(6):1413-26.

12.

Neuronal RING finger protein 11 (RNF11) regulates canonical NF-κB signaling.

Pranski EL, Dalal NV, Herskowitz JH, Orr AL, Roesch LA, Fritz JJ, Heilman C, Lah JJ, Levey AI, Betarbet RS.

J Neuroinflammation. 2012 Apr 16;9:67. doi: 10.1186/1742-2094-9-67.

13.

Loss of desmin triggers mechanosensitivity and up-regulation of Ankrd1 expression through Akt-NF-κB signaling pathway in smooth muscle cells.

Mohamed JS, Boriek AM.

FASEB J. 2012 Feb;26(2):757-65. doi: 10.1096/fj.10-160291. Epub 2011 Nov 15.

PMID:
22085644
14.

Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.

Sicca F, Imbrici P, D'Adamo MC, Moro F, Bonatti F, Brovedani P, Grottesi A, Guerrini R, Masi G, Santorelli FM, Pessia M.

Neurobiol Dis. 2011 Jul;43(1):239-47. doi: 10.1016/j.nbd.2011.03.016. Epub 2011 Mar 31.

PMID:
21458570
15.

IκB kinase/nuclear factor κB-dependent insulin-like growth factor 2 (Igf2) expression regulates synapse formation and spine maturation via Igf2 receptor signaling.

Schmeisser MJ, Baumann B, Johannsen S, Vindedal GF, Jensen V, Hvalby ØC, Sprengel R, Seither J, Maqbool A, Magnutzki A, Lattke M, Oswald F, Boeckers TM, Wirth T.

J Neurosci. 2012 Apr 18;32(16):5688-703. doi: 10.1523/JNEUROSCI.0111-12.2012.

16.

Genome-wide repression of NF-κB target genes by transcription factor MIBP1 and its modulation by O-linked β-N-acetylglucosamine (O-GlcNAc) transferase.

Iwashita Y, Fukuchi N, Waki M, Hayashi K, Tahira T.

J Biol Chem. 2012 Mar 23;287(13):9887-900. doi: 10.1074/jbc.M111.298521. Epub 2012 Jan 31.

17.

Cc2d1a, a C2 domain containing protein linked to nonsyndromic mental retardation, controls functional maturation of central synapses.

Zhao M, Raingo J, Chen ZJ, Kavalali ET.

J Neurophysiol. 2011 Apr;105(4):1506-15. doi: 10.1152/jn.00950.2010. Epub 2011 Jan 27.

18.

BCL11B enhances TCR/CD28-triggered NF-kappaB activation through up-regulation of Cot kinase gene expression in T-lymphocytes.

Cismasiu VB, Duque J, Paskaleva E, Califano D, Ghanta S, Young HA, Avram D.

Biochem J. 2009 Jan 15;417(2):457-66. doi: 10.1042/BJ20080925.

19.

CD40 induces interleukin-6 gene transcription in dendritic cells: regulation by TRAF2, AP-1, NF-kappa B, AND CBF1.

Mann J, Oakley F, Johnson PW, Mann DA.

J Biol Chem. 2002 May 10;277(19):17125-38. Epub 2002 Mar 8.

20.

Inhibition of NF-kappa B activity by a membrane-transducing mutant of I kappa B alpha.

Kabouridis PS, Hasan M, Newson J, Gilroy DW, Lawrence T.

J Immunol. 2002 Sep 1;169(5):2587-93.

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