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eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Borck G, Shin BS, Stiller B, Mimouni-Bloch A, Thiele H, Kim JR, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz CE, Gothelf D, Colleaux L, Dever TE, Kubisch C, Basel-Vanagaite L. Borck G, et al. Among authors: colleaux l. Mol Cell. 2012 Nov 30;48(4):641-6. doi: 10.1016/j.molcel.2012.09.005. Epub 2012 Oct 11. Mol Cell. 2012. PMID: 23063529 Free PMC article.
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L. Abou Jamra R, et al. Among authors: colleaux l. Am J Hum Genet. 2011 Jun 10;88(6):788-795. doi: 10.1016/j.ajhg.2011.04.019. Epub 2011 May 27. Am J Hum Genet. 2011. PMID: 21620353 Free PMC article.
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.
Birk E, Har-Zahav A, Manzini CM, Pasmanik-Chor M, Kornreich L, Walsh CA, Noben-Trauth K, Albin A, Simon AJ, Colleaux L, Morad Y, Rainshtein L, Tischfield DJ, Wang P, Magal N, Maya I, Shoshani N, Rechavi G, Gothelf D, Maydan G, Shohat M, Basel-Vanagaite L. Birk E, et al. Among authors: colleaux l. Am J Hum Genet. 2010 Nov 12;87(5):694-700. doi: 10.1016/j.ajhg.2010.10.005. Epub 2010 Oct 28. Am J Hum Genet. 2010. PMID: 21035105 Free PMC article.
[Early gene expression dysregulation and intellectual disability].
Boissel S, Hashimoto S, Rio M, Zarhrate M, Munnich A, Colleaux L, Egly JM. Boissel S, et al. Among authors: colleaux l. Med Sci (Paris). 2012 Feb;28(2):128-9. doi: 10.1051/medsci/2012282003. Epub 2012 Feb 27. Med Sci (Paris). 2012. PMID: 22377293 Free article. French. No abstract available.
Contiguous mutation syndrome in the era of high-throughput sequencing.
Langouët M, Siquier-Pernet K, Sanquer S, Bole-Feysot C, Nitschke P, Boddaert N, Munnich A, Mancini GM, Barouki R, Amiel J, Colleaux L. Langouët M, et al. Among authors: colleaux l. Mol Genet Genomic Med. 2015 May;3(3):215-20. doi: 10.1002/mgg3.134. Epub 2015 Mar 18. Mol Genet Genomic Med. 2015. PMID: 26029708 Free PMC article.
Mutation in TTI2 reveals a role for triple T complex in human brain development.
Langouët M, Saadi A, Rieunier G, Moutton S, Siquier-Pernet K, Fernet M, Nitschke P, Munnich A, Stern MH, Chaouch M, Colleaux L. Langouët M, et al. Among authors: colleaux l. Hum Mutat. 2013 Nov;34(11):1472-6. doi: 10.1002/humu.22399. Epub 2013 Sep 10. Hum Mutat. 2013. PMID: 23956177
122 results