Publications scientifiques 2007

1. Attali, M., Stetsyuk, V., Basmaciogullari, A., Aiello, V., Zanta-Boussif, M.A., Duvillie, B. and Scharfmann, R.: « Control of beta-cell differentiation by the pancreatic mesenchyme ». Diabetes 56 (2007) 1248-58.

2Bartoli, M., Poupiot, J., Vulin, A., Fougerousse, F., Arandel, L., Daniele, N., Roudaut, C., Noulet, F., Garcia, L., Danos, O. and Richard, I.« AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency ». Gene Ther 14 (2007) 733–740.

3. Benchaouir, R., Meregalli, M., Farini, A., D’Antona, G., Belicchi, M., Goyenvalle, A., Battistelli, M., Bresolin, N., Bottinelli, R., Garcia, L. and Torrente, Y.: « Restoration of Human Dystrophin Following Transplantation of Exon-Skipping-Engineered DMD Patient Stem Cells into Dystrophic Mice ». Cell Stem Cell 1 (2007) 646.

4Benchaouir, R., Picot, J., Greppo, N., Rameau, P., Stockholm, D., Garcia, L., Paldi, A. and Laplace-Builhe, C.« Combination of quantification and observation methods for study of ”side population” cells in their “in vitro” microenvironment. ». Cytometry A 71 (2007) 251-7.

5. Beroud, C., Tuffery-Giraud, S., Matsuo, M., Hamroun, D., Humbertclaude, W., Monnier, N., Moizard, M.P., Voelckel, M.A., Calemard, L.M., Boisseau, P., Blayau, M., Philippe, C., Cossee, M., Pages, M., Rivier, F., Danos, O.Garcia, L. and Claustres, M.: « Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63 % of patients with Duchenne muscular dystrophy ». Hum Mutat 28 (2007) 196-202.

6. Brissault, B., Kichler, A., Leborgne, C., Jarroux, N., Cheradame, H. and Guis, C.: « Amphiphilic Poly[(propylene glycol)-block-(2-methyl-2-oxazoline)] Copolymers for Gene Transfer in Skeletal Muscle ». ChemMedChem 2 (2007) 1202-1207.

7. Carmignac, V., Salih, M.A., Quijano-Roy, S., Marchand, S., Al Rayess, M.M., Mukhtar, M.M., Urtizberea, J.A., Labeit, S., Guicheney, P., Leturcq, F., Gautel, M., Fardeau, M., Campbell, K.P.,Richard, I., Estournet, B. and Ferreiro, A.: « C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy ». Ann Neurol 61 (2007) 340-351.

8Charrier, S., Dupre, L., Scaramuzza, S., Jeanson-Leh, L., Blundell, M.P., Danos, O., Cattaneo, F., Aiuti, A., Eckenberg, R., Thrasher, A.J., Roncarolo, M.G. and Galy, A.: « Lentiviral vectors targeting WASp expression to hematopoietic cells, efficiently transduce and correct cells from WAS patients ». Gene Ther 14 (2007) 415-28.

9. Coecke, S., Balls, M., Bowe, G., Davis, J., Gstraunthaler, G., Hartung, T., Hay, R., Price, A.,Merten, O.-W., Stokes, W., Schlechtman, L. and Stacey, G.: « Guidance on Good Cell Culture Practice. A report of the second ECVAM task force on Good Cell Culture Practice – Proceedings of the 19th ESACT Meeting, Harrogate, UK, June 5-8, 2005 ». In: Smith, R. (Ed.), Cell Technology for Cell Products. Springer, Dordrecht, 2007, pp. 313-315.

10Daniele, N., Richard, I. and Bartoli, M.« Ins and outs of therapy in limb girdle muscular dystrophies ». Int J Biochem Cell Biol 39 (2007) 1608-24.

11. Deburgrave, N., Daoud, F., Llense, S., Barbot, J.C., Recan, D., Peccate, C., Burghes, A.H.M., Beroud, C., Garcia, L., Kaplan, J., Chelly, J. and Leturcq, F.: « Protein, and mRNABased phenotype-genotype correlations in DMD/DMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene ». Hum Mutat 28 (2007) 183-195.

12. Delague, V., Jacquier, A., Hamadouche, T., Poitelon, Y., Baudot, C., Boccaccio, I., Chouery, E., Chaouch, M., Kassouri, N., Jabbour, R., Grid, D., Megarbane, A., Haase, G. and Levy, N.:« Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H ». Am J Hum Genet 81 (2007) 1-16.

13Delenda, C., Chillon, M., Douar, A.M. and Merten, O.-W.« Cells for gene therapy and vector production ». In: Pörtner, R. (Ed.), Animal Cell Biotechnology: Methods and Protocols. Humana Press, Totowa, 2007, pp. 23-91.

14. Elleuch, N., Bouslam, N., Hanein, S., Lossos, A., Hamri, A., Klebe, S., Meiner, V., Birouk, N., Lerer, I., Grid, D., Bacq, D., Tazir, M., Zelenika, D., Argov, Z., Durr, A., Yahyaoui, M., Benomar, A., Brice, A. and Stevanin, G.: « Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families ». Neurogenetics (2007).

15. Faure, O., Graff-Dubois, S., Alves, P.M., Cornet, S., Duffour, M.T., Scardino, A., Gross, D.A., Miconnet, I., Salcedo, M., Chouaib, S., Lemonnier, F.A., Abastado, J.P. and Kosmatopoulos, K.:« Induction of multiple CD8+ T cell responses against the inducible Hsp70 employing an Hsp70 oligoepitope peptide ». Oncol Rep 17 (2007) 679-85.

16Fougerousse, F., Bartoli, M., Poupiot, J., Arandel, L., Durand, M., Guerchet, N., Gicquel, E., Danos, O. and Richard, I.« Phenotypic Correction of alpha-Sarcoglycan Deficiency by Intra-arterial Injection of a Muscle-specific Serotype 1 rAAV Vector ». Mol Ther 15 (2007) 53-61.

17. Griggs, R., Vihola, A., Hackman, P., Talvinen, K., Haravuori, H., Faulkner, G., Eymard, B.,Richard, I., Selcen, D., Engel, A., Carpen, O. and Udd, B.: « Zaspopathy in a large classic late-onset distal myopathy family ». Brain 130 (2007) 1477-84.

18Israeli, D., Ziaei, S., Gjata, B., Benchaouir, R., Rameau, P., Marais, T., Fukada, S.I., Segawa, M., Yamamoto, H., Gonin, P., Danos, O. and Garcia, L.« Expression of mdr1 is required for efficient long term regeneration of dystrophic muscle ». Exp Cell Res 313 (2007) 2438-50.

19. Jaiswal, J.K., Marlow, G., Summerill, G., Mahjneh, I., Mueller, S., Hill, M., Miyake, K., Haase, H., Anderson, L.V., Richard, I., Kiuru-Enari, S., McNeil, P.L., Simon, S.M. and Bashir, R.: « Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect ». Traffic 8 (2007) 77-88.

20Jeanson-Leh, L., Blondeau, J. and Galy, A.« Optimization of short hairpin RNA for lentiviral-mediated RNAi against WAS ». Biochem Biophys Res Commun 362 (2007) Pages 498-503.

21Kichler, A., Leborgne, C., Danos, O. and Bechinger, B.: « Characterization of the gene transfer process mediated by histidine-rich peptides ». J Mol Med 85 (2007) 191-201.

22. Klebe, S., Durr, A., Bouslam, N., Grid, D., Paternotte, C., Depienne, C., Hanein, S., Bouhouche, A., Elleuch, N., Azzedine, H., Poea-Guyon, S., Forlani, S., Denis, E., Charon, C., Hazan, J., Brice, A. and Stevanin, G.: « Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description ». Am J Med Genet B Neuropsychiatr Genet (2007).

23. Lesueur, F., Bouadjar, B., Lefevre, C., Jobard, F., Audebert, S., Lakhdar, H., Martin, L., Tadini, G., Karaduman, A., Emre, S., Saker, S., Lathrop, M. and Fischer, J.: « Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13 ». J Invest Dermatol 127 (2007) 829-34.

24. Lesueur, F., Lefevre, C., Has, C., Guilloud-Bataille, M., Oudot, T., Mahe, E., Lahfa, M., Mansouri, S., Mosharraf-Olmolk, H., Sobel, E., Heath, S., Lathrop, M., Dizier, M.H., Prud’Homme, J.F. and Fischer, J.: « Confirmation of psoriasis susceptibility loci on chromosome 6p21 and 20p13 in French families ». J Invest Dermatol 127 (2007) 1403-9.

25. Lesueur, F., Oudot, T., Heath, S., Foglio, M., Lathrop, M., Prud’homme, J.F. and Fischer, J.:« ADAM33, a New Candidate for Psoriasis Susceptibility ». PLoS ONE 2 (2007) e906.

26. Mars, L.T., Bauer, J., Gross, D.A., Bucciarelli, F., Firat, H., Hudrisier, D., Lemonnier, F., Kosmatopoulos, K. and Liblau, R.S.: « CD8 T Cell Responses to Myelin Oligodendrocyte Glycoprotein-Derived Peptides in Humanized HLA-A*0201-Transgenic Mice ». J Immunol 179 (2007) 5090-8.

27. Mason, A.J., Bechinger, B. and Kichler, A.« Rational design of vector and antibiotic peptides using solid-state NMR. « . Mini Rev Med Chem 7 (2007) 491-7.

28. Mason, A.J., Bertani, P., Moulay, G., Marquette, A., Perrone, B., Drake, A.F., Kichler, A. and Bechinger, B.: « Membrane Interaction of Chrysophsin-1, a Histidine-Rich Antimicrobial Peptide from Red Sea Bream ». Biochemistry (2007).

29. Mason, A.J., Leborgne, C., Moulay, G., Martinez, A., Danos, O., Bechinger, B. and Kichler, A.:« Optimising histidine rich peptides for efficient DNA delivery in the presence of serum ». J Control Release 118 (2007) 95-104.

30Masurier, C., Boutin, S., Veron, P., Bernard, J., Danos, O. and Davoust, J.« Enhanced lentiviral transduction of monocyte-derived dendritic cells in presence of conditioned medium from dying monocytes ». Hum Gene Ther? (2007) 161 -170.

31. Maystadt, I., Rezsöhazy, R., Barkats, M.Duque, S., Vannuffel, P., Remacle, S., Lambert, B., Najimi, M., Sokal, E., Munnich, A., Viollet, L. and Verellen-Dumoulin, C.: « The Nuclear Factor B–Activator Gene PLEKHG5 Is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset « . Am J Hum Genet 81 (2007) 67-76.

32. Milic, A., Daniele, N., Lochmuller, H., Mora, M., Comi, G.P., Moggio, M., Noulet, F., Walter, M.C., Morandi, L., Poupiot, J., Roudaut, C., Bittner, R.E., Bartoli, M. and Richard, I.« A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay ». Neuromuscul Disord 17 (2007) 148-56.

33Paldi, A.« Expression stochastique des gènes », Génétiquement indéterminé: le vivant auto-organisé. Editions QUAE – INRA, 2007.

34. Prongidi-Fix, L., Sugawara, M., Bertani, P., Raya, J., Leborgne, C., Kichler, A. and Bechinger, B.: « Self-Promoted Cellular Uptake of Peptide/DNA Transfection Complexes ». Biochemistry 46 (2007) 11253-62.

35. Quenneville, S.P., Chapdelaine, P., Skuk, D., Paradis, M., Goulet, M., Rousseau, J., Xiao, X.,Garcia, L. and Tremblay, J.P.: « Autologous transplantation of muscle precursor cells modified with a lentivirus for muscular dystrophy: human cells and primate models ». Mol Ther 15 (2007) 431-8.

36Rivière, C. and Douar, A.M.« Current challenges in AAV systemic delivery in humans. in Virus Expression Vectors ». In: Hefferon, K.L. (Ed.), Virus expression vectors. Transworld Research Network, 2007, pp. Chapt 2.

37. Robin, P., Fritsch, L., Philipot, O., Svinartchouk, F. and Ait-Si-Ali, S.: « Post-translational modifications of histones H3 and H4 associated with the histone methyltransferases Suv39h1 and G9a ». Genome Biol 8 (2007) R270.

38. Stevanin, G., Paternotte, C., Coutinho, P., Klebe, S., Elleuch, N., Loureiro, J.L., Denis, E., Cruz, V.T., Durr, A., Prud’homme, J.F., Weissenbach, J., Brice, A. and Hazan, J.: « A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21 ». Neurology 68 (2007) 1837-40.

39. Stevanin, G., Santorelli, F.M., Azzedine, H., Coutinho, P., Chomilier, J., Denora, P.S., Martin, E., Ouvrard-Hernandez, A.M., Tessa, A., Bouslam, N., Lossos, A., Charles, P., Loureiro, J.L., Elleuch, N., Confavreux, C., Cruz, V.T., Ruberg, M., Leguern, E., Grid, D., Tazir, M., Fontaine, B., Filla, A., Bertini, E., Durr, A. and Brice, A.: « Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum ». Nat Genet 39 (2007) 366-72.

40Stockholm, D., Benchaouir, R., Picot, J., Rameau, P., Neildez, T.M.A., Landini, G., Laplace-Builhe, C. and Paldi, A.« The origin of phenotypic heterogeneity in a clonal cell population in vitro ». PLoS ONE 2 (2007) e394.

41. Tang, Y., Liu, X., Zoltoski, R.K., Novak, L.A., Herrera, R.A., Richard, I., Kuszak, J.R. and Kumar, N.M.: « Age-Related Cataracts in {alpha}3Cx46-Knockout Mice Are Dependent on a Calpain 3 Isoform ». Invest Ophthalmol Vis Sci 48 (2007) 2685-94.

42. Vallat, J.M., Magy, L., Lagrange, E., Sturtz, F., Magdelaine, C., Grid, D. and Tazir, M.:« Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance ». Acta Neuropathol (Berl) 113 (2007) 443-9.

43. Vassilopoulos, S., Brocard, J., Garcia, L., Marty, I. and Bouron, A.: « Retrograde regulation of store-operated calcium channels by the ryanodine receptor-associated protein triadin 95 in rat skeletal myotubes ». Cell Calcium 41 (2007) 179-185.

44Veron, P., Allo, V., Riviere, C., Bernard, J., Douar, A.M. and Masurier, C.« Major subsets of human dendritic cells are efficiently transduced using self-complementary adeno-associated viral vectors 1 and 2 ». J Virol 81 (2007) 5385-5394.