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54. DUX 4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Author

Ferreboeuf, M, Mariot, V., Bessières, B., Vasiljevic, A, Attié-Bitach, Tania, Collardeau, S, Roche, Stéphane, Magdinier, Frédérique, Robin-Ducellier, Jérôme, Rameau, P, Whalen, S, Sacconi, S, Mouly, V, Butler-Browne, G, Dumonceaux, J, Université Pierre et Marie Curie - Paris 6 (UPMC), Institut de biologie et chimie des protéines [Lyon] (IBCP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Gustave Roussy (IGR), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Cimiez [Nice] (CHU), CHU Pitié-Salpêtrière [APHP], Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

Subjects
musculoskeletal diseases, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]
Abstract

International audience; Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder with a 1 in 7500 incidence. Symptoms typically arise in young adulthood and most patients show clinical features before age 30. FSHD is most commonly characterized by progressive wasting and weakness of facial and shoulder-girdle muscles, although no consistent pattern of penetrance or severity exists, even within affected families. A hallmark characteristic of FSHD is asymmetrical muscle weakness. There are also non-muscular features including retinal vasculopathy and high frequency hearing loss. Several recent breakthroughs now support a model in which mis-expression of the myotoxic DUX4 gene is a primary patho-genic event underlying FSHD. We hypothesized that there was a direct correlation between DUX4 expression patterns and the involvement of selected muscles (and ear and retinal pathologies) in FSHD. In short, we proposed that if DUX4 over-expression is indeed an underlying path-ogenic event in FSHD, it must be preferentially expressed in FSHD-affected regions. To test this hypothesis, we developed transgenic reporter mice containing a putative DUX4 promoter cloned upstream of GFP. We generated three separate lines of DUX4 promoter-GFP mice. We found the DUX4 promoter directed GFP expression in the face and limbs of newborn and adult mice, as well as multiple cell types in the retina. Essentially all other organs were GFP negative with a few exceptions including the pancreas and brain (cerebellum, olfactory bulb, and hippocampus). Strikingly, all lines showed asymmetrical expression and variable pene-trance in all GFP-positive tissues, even within individual litters. We conclude that our mice faithfully recapitulate expected DUX4 expression patterns in regions of FSHD pathology, and further suggest the role of DUX4 as pathogenic insult in FSHD. We are now using a modified but analogous system to inducibly express DUX4.

Published
2013
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56. Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient A Cellular Model for FSHD

Author

Krom, Y.D., Dumonceaux, J., Mamchaoui, K., Hamer, B. den, Mariot, V., Negroni, E., Geng, L.N., Martin, N., Tawil, R., Tapscott, S.J., Engelen, B.G.M. van, Mouly, V., Butler-Browne, G.S., and Maarel, S.M. van der

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Human Movement & Fatigue [DCN MP - Plasticity and memory NCEBP 10]
Abstract

Item does not contain fulltext In most cases facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat in the 4q subtelomere. This contraction is associated with local chromatin decondensation and derepression of the DUX4 retrogene. Its complex genetic and epigenetic cause and high clinical variability in disease severity complicate investigations on the pathogenic mechanism underlying FSHD. A validated cellular model bypassing the considerable heterogeneity would facilitate mechanistic and therapeutic studies of FSHD. Taking advantage of the high incidence of somatic mosaicism for D4Z4 repeat contraction in de novo FSHD, we have established a clonal myogenic cell model from a mosaic patient. Individual clones are genetically identical except for the size of the D4Z4 repeat array, being either normal or FSHD sized. These clones retain their myogenic characteristics, and D4Z4 contracted clones differ from the noncontracted clones by the bursts of expression of DUX4 in sporadic nuclei, showing that this burst-like phenomenon is a locus-intrinsic feature. Consequently, downstream effects of DUX4 expression can be observed in D4Z4 contracted clones, like differential expression of DUX4 target genes. We also show their participation to in vivo regeneration with immunodeficient mice, further expanding the potential of these clones for mechanistic and therapeutic studies. These cell lines will facilitate pairwise comparisons to identify FSHD-specific differences and are expected to create new opportunities for high-throughput drug screens.

Published
2012
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58. Correlation between low FAT1 expression and early affected muscle in FSHD

Author

Mariot, V., primary, Roche, S., additional, Hourdé, C., additional, Portilho, D., additional, Sacconi, S., additional, Puppo, F., additional, Duguez, S., additional, Rameau, P., additional, Caruso, N., additional, Delezoide, A., additional, Desnuelle, C., additional, Bessières, B., additional, Collardeau, S., additional, Feasson, L., additional, Maisonobe, T., additional, Magdinier, F., additional, Helmbacher, F., additional, Butler-Browne, G., additional, Mouly, V., additional, and Dumonceaux, J., additional

Published
2015
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59. Reversible immortalization allows human artificial chromosome-mediated gene correction of human dystrophic muscle progenitor cells

Author

Benedetti, S., primary, Hoshiya, H., additional, Ragazzi, M., additional, Uno, N., additional, Kazuki, Y., additional, Ferrari, G., additional, Tonlorenzi, R., additional, Lombardo, A., additional, Mouly, V., additional, Naldini, L., additional, Messina, G., additional, Oshimura, M., additional, Cossu, G., additional, and Tedesco, F., additional

Published
2015
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63. G.O.5

Author

Trollet, C., primary, Chartier, A., additional, Klein, P., additional, Barbezier, N., additional, Gidaro, T., additional, Casas, F., additional, Carberry, S., additional, Dowling, P., additional, Maynadier, L., additional, Dickson, G., additional, Mouly, V., additional, Ohlendieck, K., additional, Butler-Browne, G., additional, and Simonelig, M., additional

Published
2014
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64. O01 Autologous cell therapy in oculopharyngeal muscular dystrophy (OPMD)

Author

Périé, S., primary, Trollet, C., additional, Mouly, V., additional, Larghero, J., additional, Mamchaoui, K., additional, Bouazza, B., additional, Toy-Miou, M., additional, Marolleau, J.P., additional, Eymard, B., additional, Laforêt, P., additional, Chapon, F., additional, Butler-Browne, G., additional, and Guily, J. Lacau St, additional

Published
2014
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65. Age-dependent alteration in muscle regeneration: the critical role of tissue niche.

Author

Barberi, L, Scicchitano, Bianca Maria, De Rossi, M, Bigot, A, Duguez, S, Wielgosik, A, Stewart, C, Mcphee, J, Conte, M, Narici, M, Franceschi, C, Mouly, V, Butler Browne, G, Musarò, A., Scicchitano, Bianca Maria (ORCID:0000-0002-9599-6642), Barberi, L, Scicchitano, Bianca Maria, De Rossi, M, Bigot, A, Duguez, S, Wielgosik, A, Stewart, C, Mcphee, J, Conte, M, Narici, M, Franceschi, C, Mouly, V, Butler Browne, G, Musarò, A., and Scicchitano, Bianca Maria (ORCID:0000-0002-9599-6642)

Abstract

Although adult skeletal muscle is composed of fully differentiated fibers, it retains the capacity to regenerate in response to injury and to modify its contractile and metabolic properties in response to changing demands. The major role in the growth, remodeling and regeneration is played by satellite cells, a quiescent population of myogenic precursor cells that reside between the basal lamina and plasmalemma and that are rapidly activated in response to appropriate stimuli. However, in pathologic conditions or during aging, the complete regenerative program can be precluded by fibrotic tissue formation and resulting in functional impairment of the skeletal muscle. Our study, along with other studies, demonstrated that although the regenerative program can also be impaired by the limited proliferative capacity of satellite cells, this limit is not reached during normal aging, and it is more likely that the restricted muscle repair program in aging is presumably due to missing signals that usually render the damaged muscle a permissive environment for regenerative activity.

Published
2013

66. Atrophy, Fibrosis, and Increased PAX7-Positive Cells in Pharyngeal Muscles of Oculopharyngeal Muscular Dystrophy Patients

Author

Gidaro, T, Negroni, E, Periè, S, Mirabella, Massimiliano, Laine, J, Lacau St Guily, J, Butler Brown, G, Mouly, V, Trollet, C., Mirabella, Massimiliano (ORCID:0000-0002-7783-114X), Gidaro, T, Negroni, E, Periè, S, Mirabella, Massimiliano, Laine, J, Lacau St Guily, J, Butler Brown, G, Mouly, V, Trollet, C., and Mirabella, Massimiliano (ORCID:0000-0002-7783-114X)

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant inherited dystrophy caused by an abnormal trinucleotide repeat expansion in the poly(A)-binding-protein-nuclear 1 (PABPN1) gene. Primary muscular targets of OPMD are the eyelid elevator and pharyngeal muscles, including the cricopharyngeal muscle (CPM), the progressive involution of which leads to ptosis and dysphagia, respectively. To understand the consequences of PABPN1 polyalanine expansion in OPMD, we studied muscle biopsies from 14 OPMD patients, 3 inclusion body myositis patients, and 9 healthy controls. In OPMD patient CPM (n = 6), there were typical dystrophic features with extensive endomysial fibrosis and marked atrophy of myosin heavy-chain IIa fibers. There were more PAX7-positive cells in all CPM versus other muscles (n = 5, control; n = 3, inclusion body myositis), and they were more numerous in OPMD CPM versus control normal CPM without any sign of muscle regeneration. Intranuclear inclusions were present in all OPMD muscles but unaffected OPMD patient muscles (i.e. sternocleidomastoid, quadriceps, or deltoid; n = 14) did not show evidence of fibrosis, atrophy, or increased PAX7-positive cell numbers. These results suggest that the specific involvement of CPM in OPMD might be caused by failure of the regenerative response with dysfunction of PAX7-positive cells and exacerbated fibrosis that does not correlate with the presence of PABPN1 inclusions.

Published
2013

67. Regenerative potential of human muscle stem cells in chronic inflammation

Author

Duijnisveld, BJ, Bigot, A, Beenakker, KGM, Portilho, DM, Raz, V, van der Heide, HJL, Visser, CPJ, Chaouch, S, Mamchaoui, K, Westendorp, RGJ, Mouly, V, Butler-Browne, GS, Nelissen, RGHH, Maier, AB, Duijnisveld, BJ, Bigot, A, Beenakker, KGM, Portilho, DM, Raz, V, van der Heide, HJL, Visser, CPJ, Chaouch, S, Mamchaoui, K, Westendorp, RGJ, Mouly, V, Butler-Browne, GS, Nelissen, RGHH, and Maier, AB

Abstract

INTRODUCTION: Chronic inflammation is a profound systemic modification of the cellular microenvironment which could affect survival, repair and maintenance of muscle stem cells. The aim of this study was to define the role of chronic inflammation on the regenerative potential of satellite cells in human muscle. METHODS: As a model for chronic inflammation, 11 patients suffering from rheumatoid arthritis (RA) were included together with 16 patients with osteoarthritis (OA) as controls. The mean age of both groups was 64 years, with more females in the RA group compared to the OA group. During elective knee replacement surgery, a muscle biopsy was taken from the distal musculus vastus medialis. Cell populations from four RA and eight OA patients were used for extensive phenotyping because these cell populations showed no spontaneous differentiation and myogenic purity greater than 75% after explantation. RESULTS: After mononuclear cell explantation, myogenic purity, viability, proliferation index, number of colonies, myogenic colonies, growth speed, maximum number of population doublings and fusion index were not different between RA and OA patients. Furthermore, the expression of proteins involved in replicative and stress-induced premature senescence and apoptosis, including p16, p21, p53, hTERT and cleaved caspase-3, was not different between RA and OA patients. Mean telomere length was shorter in the RA group compared to the OA group. CONCLUSIONS: In the present study we found evidence that chronic inflammation in RA does not affect the in vitro regenerative potential of human satellite cells. Identification of mechanisms influencing muscle regeneration by modulation of its microenvironment may, therefore, be more appropriate.

Published
2011

70. P.16.12 OPMD from the myoblast’s and fibroblast’s point of view

Author

Gidaro, T., primary, Negroni, E., additional, Klein, P., additional, Oloko, M., additional, Lesnik, M., additional, Bigot, A., additional, Mamchaoui, K., additional, Périé, S., additional, Guily, J.L. St, additional, Butler-Browne, G., additional, Mouly, V., additional, and Trollet, C., additional

Published
2013
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71. P.16.3 DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Author

Ferreboeuf, M., primary, Mariot, V., additional, Bessières, B., additional, Vasiljevic, A., additional, Attié-Bitach, T., additional, Collardeau, S., additional, Roche, S., additional, Magdinier, F., additional, Robin-Ducellier, J., additional, Rameau, P., additional, Whalen, S., additional, Sacconi, S., additional, Mouly, V., additional, Butler-Browne, G., additional, and Dumonceaux, J., additional

Published
2013
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76. P1.47 CD49d is a disease biomarker and a potential therapeutic target in Duchenne muscular dystrophy

Author

Mariz, F. Pinto, primary, Carvalho, L. Rodrigues, additional, Araujo, A.P.Q., additional, de Mello, W., additional, Ribeiro, M.G., additional, Cunha, M.C.S., additional, Riederer, I., additional, Negroni, E., additional, Mouly, V., additional, Voit, T., additional, Desguerre, I., additional, Butler-Browne, G., additional, Savino, W., additional, and Silva-Barbosa, S.D., additional

Published
2011
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80. Satellite cells and training in the elderly.

Author

Thornell, Lars-Eric, Lindström, Mona, Renault, V, Mouly, V, Butler-Browne, G S, Thornell, Lars-Eric, Lindström, Mona, Renault, V, Mouly, V, and Butler-Browne, G S

Abstract

In the present review, we describe the effects of ageing on human muscle fibres, underlining that each human muscle is unique, meaning that the phenotype becomes specifically changed upon ageing in different muscles, and that the satellite cells are key cells in the regeneration and growth of muscle fibres. Satellite cells are closely associated with muscle fibres, located outside the muscle fibre sarcolemma but beneath the basement lamina. They are quiescent cells, which become activated by stimulation, like muscle fibre injury or increased muscle tension, start replicating and are responsible for the repair of injured muscle fibres and the growth of muscle fibres. The degree of replication is governed by the telomeric clock, which is affected upon excessive bouts of degeneration and regeneration as in muscular dystrophies. The telomeric clock, as in dystrophies, does not seem to be a limiting factor in ageing of human muscle. The number of satellite cells, although reduced in number in aged human muscles, has enough number of cell divisions left to ensure repair throughout the human life span. We propose that an active life, with sufficient general muscular activity, should be recommended to reduce the impairment of skeletal muscle function upon ageing.

Published
2003
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87. Regenerative capacity of human satellite cells : the mitotic clock in cell transplantation

Author

Di Donna, S, Renault, V, Forestier, C, Piron-Hamelin, G, Thiesson, D, Cooper, R N, Ponsot, Elodie, Decary, S, Amouri, R, Hentati, F, Butler-Browne, G S, Mouly, V, Di Donna, S, Renault, V, Forestier, C, Piron-Hamelin, G, Thiesson, D, Cooper, R N, Ponsot, Elodie, Decary, S, Amouri, R, Hentati, F, Butler-Browne, G S, and Mouly, V

Abstract

In this communication, we will review the problems caused by cell-mediated gene therapy, taking skeletal muscle as a physiological model. In particular we have utilised vectors transferring telomerase under the control of retroviral promoters into human satellite cells. The set of results presented here has several implications regarding gene therapy trials. Nevertheless, more experiments will be required to fully validate this cellular model and to use telomerase to safely extend the lifespan of putative gene therapy vectors.

Published
2000
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93. Autologous Transplantation of Muscle-Derived CD133+ Stem Cells in Duchenne Muscle Patients

Author

Torrente, Y., primary, Belicchi, M., additional, Marchesi, C., additional, D'antona, G., additional, Cogiamanian, F., additional, Pisati, F., additional, Gavina, M., additional, Giordano, R., additional, Tonlorenzi, R., additional, Fagiolari, G., additional, Lamperti, C., additional, Porretti, L., additional, Lopa, R., additional, Sampaolesi, M., additional, Vicentini, L., additional, Grimoldi, N., additional, Tiberio, F., additional, Songa, V., additional, Baratta, P., additional, Prelle, A., additional, Forzenigo, L., additional, Guglieri, M., additional, Pansarasa, O., additional, Rinaldi, C., additional, Mouly, V., additional, Butler-Browne, G. S., additional, Comi, G. P., additional, Biondetti, P., additional, Moggio, M., additional, Gaini, S. M., additional, Stocchetti, N., additional, Priori, A., additional, D'angelo, M. G., additional, Turconi, A., additional, Bottinelli, R., additional, Cossu, G., additional, Rebulla, P., additional, and Bresolin, N., additional

Published
2007
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