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Institut Cochin (IC)
Genetics and Pathophysiology of neurodevelopmental and neuromuscular diseases
24, rue du Faubourg St Jacques - 75014 PARIS
Téléphone : (33) 1 44 41 24 24 - Télécopie : (33) 1 44 41 24 21

Fauchereau F, Herbrand U, Chafey P, Eberth A, Koulakoff A, Vinet MC, Ahmadian MR, Chelly J, Billuart P. The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain. Mol Cell Neurosci. 2003 Aug;23(4):574-86.

Billuart P, Chelly J. From fragile X mental retardation protein to Rac1 GTPase: new insights from Fly CYFIP. Neuron. 2003 Jun 19;38(6):843-5.

Bahi N, Friocourt G, Carrié A, Graham ME, Weiss JL, Chafey P, Fauchereau F, Burgoyne R, Chelly J. IL1 receptor accessory protéine like, a protéine involved in X-linked mental retardation, interacts with neuronal calcium sonsor-1 and regulates exocytosis. Hum Mol Genet 2003; 12 :1-11

Meloni I, Muscettola, M, Raynaud M, Longo I, Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Jean-Pierre Fryns JP, Ropers HH, Yntema HG. Lewis SE, Schaffer JE and Renieri A. FACL4, encoding fatty acids ligase type 4, is a new MRX gene. Nature Genetics, 2002. 30:436-440.

Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet, 2002 11: 981-991 (2002).

Chelly J, Mandel JL.Monogenic causes of X-linked mental retardation. Nature Reviews/Genetics, 2:669-80. Review (2001)

Zemni R, Bienvenu T, Vinet MC, Billuart P, Carrié A, Fauchereau F, Friocourt G, des Portes V, McDonell N, Cardona A, Frints S, Meindi A, Ronce N, Moraine C, van Bokhoven H, RopersHH, Kahn A, Sefiani A, Fryns JP, Beldjord B & Chelly J. Identification of a novel gene involved in X-linked mental retardation through investigation of an X;2 balanced translocation. Nature Genetics, 2000. 24 :167-170.

Bienvenu T, Carrie A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M & Chelly J. MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet. 2000. 9 :1377-84.

Carrié A, Jun L, Bienvenu T, Vinet MC, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Kahn A, Fryns JP, Beldjord C, Marynen P & Chelly J. A. Novel Member of the IL-1 Receptor Family Highly Expressed in Hippocampus and Involved in X-Linked Mental Retardation. Nature Genetics 1999 ; 23 : 25-31.

Francis F., Koulakoff A., Boucher D., Chafey P., Schaar B., Vinet MC., Friocourt G., McDonnell N., Reiner O., Kahn A., McConnell SK., Berward-Netter Y., Denoulet P & J Chelly. Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons. Neuron 1999, 23, 247-256.

des Portes V, Pinard JM, Billuart P, Vinet MC, Koulakoff A, Carrié A, Gelot A, Dupuis E, Motte J, Berwald-Netter Y, Catala M, Kahn A, Beldjord C, & Chelly J. Identification of a novel CNS Gene Required for Neuronal Migration and involved in X-linked Subcortical Laminar Heterotopia and Lissencephaly syndrome. Cell, 1998, 92 : 51-61.

Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet M C, Zemni R, Crollius H C, Carrié A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C & Chelly J. Oligophrenin 1, a novel gene encoding a rho-GAP protein involved in X-linked non-specific mental retardation. Nature, 1998, 392 : 923-6.

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