Academy of Europe: Publications

I. Oberlé, F. Rousseau, D. Heitz, C. Kretz, D. Devys, A. Hanauer, J. Boué, M.F. Bertheas and J.L. Mandel: Instability of a 550bp DNA segment and abnormal methylation in Fragile X syndrome. Science (1991) 252, 1097 1102.

F. Rousseau, D. Heitz, V. Biancalana, S. Blumenfeld, C. Kretz, J. Boué, N. Tommerup, C. Van Der Hagen, C. DeLozier Blanchet, M.F. Croquette, S. Gilgenkrantz, P. Jalbert, M.A. Voelckel, I. Oberlé and J.L. Mandel: Efficient and reliable direct diagnosis of the Fragile X mental retardation syndrome. New England Journal of Medicine (1991) 325, 1673-1681.

C. Ben Hamida, N. Doerflinger, S. Belal, C. Linder, L. Reutenauer, C. Dib, G. Gyapay, A. Vignal, D. Le Paslier, D. Cohen, M. Pandolfo, V. Mokini, G. Novelli, F. Hentati, M. Ben Hamida, J.L. Mandel and M. Koenig: Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nature Genetics (1993) 5, 195-200.

D. Devys, Y. Lutz, N. Rouyer, J.P. Bellocq and J.L. Mandel: FMR-1 protein is cytoplasmic, is most abundant in neurons and appears normal in carriers of fragile X premutation. Nature Genetics (1993) 4, 335-340.

G. Imbert, C. Kretz, K. Johnson and J.L. Mandel : Origin of the expansion mutation in myotonic dystrophy. Nature Genetics (1993) 4, 72-76.

J. Mosser, A.M. Douar, C.O. Sarde, P. Kioschis, R. Feil, H. Moser, A.M. Poustka, J.L. Mandel and P. Aubourg: Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature (1993) 361, 726-730.

J. Mosser, Y. Lutz, M.E. Stoeckel, C.O. Sarde, C. Kretz, A.M. Douar, P. Aubourg, J.L. Mandel: The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. Human Mol. Genet. (1994) 3:265-271.

K. Ouahchi, M. Arita, H. Kayden, F. Hentati, M. Ben Hamida, R. Sokol, H. Arai, K. Inoue, J.L. Mandel and M. Koenig: Ataxia with isolated vitamin E deficiency is caused by mutations in the -tocopherol transfer protein. Nature Genet. (1995) 9:141-145.

Y. Trottier, Y. Lutz, G. Stevanin, G. Imbert, D. Devys, G. Cancel, C. Weber, F. Saudou, G. David, L. Tora, Y. Agid, A. Brice and J.L. Mandel: Polyglutamine expansion as a common pathological epitope detected in Huntington's disease and in four dominant cerebellar ataxias. Nature (1995) 378: 403-406.

V. Campuzano, L. Montermini, M.D. Moltò, L. Pianese, M. Cossée, F. Cavalcanti, E. Monros, F. Rodius, F; Duclos, A. Monticelli, F. Zara, J. Cañizares, H. Koutnikova, S. Bidichandani, C. Gellera, A. Brice, P. Trouillas, G. De Michele, A. Filla, R. De Frutos, F. Palau, P.I. Patel, S. Di Donato, J.L. Mandel, S. Cocozza, M. Koenig, and M. Pandolfo: Friedreich Ataxia. The first autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science (1996) 271:1423-1427.

A. Dürr, M. Cossée, Y. Agid, V. Campuzano, C. Mignard, C. Penet, J.L. Mandel, A. Brice, M. Koenig: Clinical and genetic abnormalities in patients with Friedreich's Ataxia. New Engl. J. Med. (1996) 335:1169-1175.

G. Imbert, F. Saudou, G. Yvert, D. Devys, Y. Trottier, J.M. Garnier, C. Weber, J.L. Mandel, G. Cancel, N. Abbas, A. Dürr, O. Didierjean, G. Stevanin, Y. Agid and A. Brice: Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet. (1996) 14:285-291.

J Laporte, L.J. Hu, C. Kretz, J.L. Mandel, P. Kioschis, J.F. Coy, S.M. Klauck, A. Poustka, N. Dahl: A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nature Genet. (1996) 13: 175-182.

A. Sittler, D. Devys, C. Weber and J.L. Mandel: Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of FMR1 protein isoforms. Hum. Mol. Genet.(1996) 5:95-102.

E. Trivier, D. De Cesare, S. Jacquot, S. Pannetier, E. Zackai, I. Young, J.L. Mandel, P. Sassone-Corsi and A. Hanauer : Mutations in the Kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature (1996) 384:567-570.

G. David, N. Abbas, G. Stevanin, A. Dürr, G. Yvert, G. Cancel, C. Weber, G. Imbert, F. Saudou, E. Antoniou, H. Drabkin, R. Gemmill, P. Giunti, A. Benomar, N. Wood, M. Ruberg, Y. Agid, J.L. Mandel and A. Brice : Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genet. (1997) 17: 65-70.

H.L. Paulson, M.K. Perez, Y. Trottier, J.Q. Trojanowski, S.H. Subramony, S.S. Das, P. Vig, J.L. Mandel, K.H. Fischbeck, R.N. Pittman: Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron (1997) 19:333-344.

M. Cossée, M. Schmitt, V. Campuzano, L. Reutenauer, C. Moutou, J.L. Mandel and M. Koenig : Evolution of the Friedreich's ataxia trinucleotide repeat expansion : founder effect and premutations. Proc. Natl. Acad. Sci. (1997) 94:7452-7457.

A. Lunkes and J.L. Mandel: A cellular model that recapitulates major pathogenic steps of Huntington's disease. Hum. Mol. Genet. (1998) 7:1355-1361.

K. Mérienne, S. Jacquot, S. Pannetier, M. Zeniou, A. Bankier, J. Gecz, J.L. Mandel, J. Mulley, P. Sassone-Corsi and A. Hanauer: A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nature Genet.(1999) 22:13-14.

F. Blondeau, J. Laporte, S. Bodin, G. Superti-Furga, B. Payrastre and J.L. Mandel:Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Human Mol. Genet. (2000) 9:2223-2229.

C. Schaeffer, B. Bardoni, J.L. Mandel, B. Ehresmann, C. Ehresmann and H. Moine: The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif. EMBO J.(2001) 20:4803-4813

J. Chelly and J.L. Mandel: Monogenic causes of X-linked mental retardation. Nature Reviews Genet. (2001) 2: 669-680.

J. Laporte, F. Blondeau, A. Buj-Bello and J.L. Mandel: The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends in Genet. (2001) 17:221-228.

A. Schenck, B. Bardoni, A. Moro, C. Bagni and J.L. Mandel: A highly conserved protein family interacting with the fragile X mental retardation protein and displaying selective interactions with the related protein FXR1P and FXR2P.Proc. Natl. Acad. Sci. (2001) 98:8844-8849.

A. Buj-Bello, V. Laugel, N. Messaddeq, H. Zahreddine, J. Laporte, J.F. Pellissier and J.L. Mandel: The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc. Natl. Acad. Sci. USA (2002) 99:15060-15065.

A. Lunkes, K.S. Lindenberg, L. Ben-Haiem, C. Weber, D. Devys, G.B. Landwehrmeyer, J.L. Mandel and Y. Trottier: Proteases acting on mutant huntingtin generate leaved products that differentially build up cytoplasmic and nuclear inclusions. Mol. Cell. (2002) 10:259-269.

Schenck A., Bardoni B., Langmann C., Harden N., Mandel J.L. and A. Giangrande: CYFIP/Sra-1 Controls