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Auteur Garcia L |
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Xèmes Journées Annuelles de la Société française de Myologie (SFM) (14-16 novembre 2012; Grenoble (France)) ; Gentil C ; Laine J ; Buclez PO ; Ferry A ; Brodsky FM ; Bonne G ; Voit T ; Garcia L ; Pietri Rouxel F ; Bitoun M | Société Française de Myologie SFM | 2012Several diseases are caused by mutations in genes encoding proteins belonging to the intracellular membrane trafficking machinery. Recent work from our team, interested in centronuclear myopathy caused by mutations in dynamin 2 has suggested tha[...]Article
Fugier C ; Klein AF ; Hammer C ; Vassilopoulos S ; Ivarsson Y ; Toussaint A ; Tosch V ; Vignaud A ; Ferry A ; Messaddeq N ; Kokunai Y ; Tsuburaya R ; Dembele D ; François V ; Precigout G ; Boulade-Ladame C ; Hummel MC ; Lopez de Munain A ; Sergeant N ; Laquerrière A ; Thibault C ; Deryckere F ; Auboeuf D ; Garcia L ; Zimmermann P ; Udd B ; Schoser B ; Takahashi MP ; Nishino I ; Bassez G ; Laporte J ; Furling D ; Charlet Berguerand N | 06/2011Accès au résumé PubMed / to PubMed abstract 28/08/2011 - La dérégulation de l’épissage alternatif de BIN1 entraine une altération des tubules T et une faiblesse musculaire, caractéristiques prédominantes des dystrophies myotoniques [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Schirwis E ; Mousiel E ; Alonso-Martin S ; Beley C ; Precigout G ; Garcia L ; Relaix F ; Amthor H | AFM-TELETHON | 2011Bone Morphogenetic Proteins (BMPs), a subfamily of signaling molecules of the TGF-beta family, and their antagonist Noggin regulate embryonic and fetal muscle growth. Moreover, a recent in-vitro study demonstrated that the signaling system BMP/N[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Blazquez L ; Aiastui A ; Pastoriza N ; Cano A ; Avril A ; Garcia L ; Lopez de Munain Arregui A | 2011Last years several mutations that can be corrected by the exon-skipping technique have been described in Duchenne dystrophy. In LGMD2A, however, all the mutations described to date do not seem to be good candidates for the RNA reparation technol[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Beley C ; Gruszczynski C ; Ziaei S ; Griffith G ; Precigout G ; Vulin A ; Dreyfus P ; Voit T ; Garcia L | 2011The analysis of DMD/BMD databases, which include patient records have allowed to assess the proportion of DMD patients that is eligible for exon skipping strategies as well as to appraise the impact of various exon skipping events. Among them, t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rendu J ; Fourest-Lieuvin A ; Brocard J ; Buclez PO ; Beley C ; Monnier N ; Lunardi J ; Pietri Rouxel F ; Garcia L ; Marty I | 2011In skeletal muscles, the ryanodine receptor of type 1 (RyR1) is the calcium channel by which calcium is released from the Sarcoplasmic Reticulum to the cytoplasm. This step leads to the contraction of the striated muscle fiber. Therefore, RyR1 i[...]Article
RNA therapeutic approaches have proven to be very successful in cell culture and in animal experiments. Some oligonucleotides based clinical trials are currently already in progress. To be efficient, the oligonucleotides must be composed of non-[...]Article
Le Guiner C ; Montus M ; Garcia L ; Y.Fromes ; Hogrel JY ; Carlier P ; Cherel Y ; Moullier P | AFM-TELETHON | 2011In Duchenne Muscular Dystrophy (DMD) the selective removal by exon skipping of exons flanking an out-of frame mutation in the dystrophin messenger can result in in-frame mRNA transcripts that are translated into shorter but functionally active d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Fugier C ; Klein A ; Hammer C ; Vassilopoulos S ; Ivarsson Y ; Vignaud A ; Ferry A ; Messaddeq N ; Thibault C ; Garcia L ; Bassez G ; Laporte J ; Furling D ; Charlet Berguerand N | AFM-TELETHON | 2011Myotonic dystrophy (DM) is the most common muscular dystrophy in adults and comprises two genetically distinct forms, both of which are caused by expansions of microsatellite repeats. The expansion of a CTG repeat in the 3'-UTR of the DMPK gene [...]Article
Accès au résumé PubMed / to PubMed abstractArticle
Fugier C ; Vassilopoulos S ; Vignaud A ; Ferry A ; François V ; Precigout G ; Garcia L ; Butler-Browne GS ; Charlet Berguerand N ; Furling D | AFM-TELETHON | 2011Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy. This disease is characterized, among other symptoms, by progressive muscle atrophy and weakness, myotonia and cardiac defects. DM1 is an autosomal dominant diseas[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Del Fraro G ; Meregalli M ; Farini A ; Belicchi M ; Parolini D ; Razini P ; Cassinelli L ; Angeloni V ; Maciotta S ; Bresolin N ; de Silva Bizario J ; Garcia L ; Torrente Y | 2011In DMD, skeletal and cardiac muscles are affected, leading to wheelchair dependency, respiratory failure and premature death. A combination of different strategies might enhance the possibility of successful therapy. We isolated CD133+ cells fro[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Etienne M ; Giannesini B ; Mille-Hamard L ; Relizani K ; Denis R ; Hourde C ; Agbulut O ; Lutzkendorf S ; Arandel L ; Vignaud A ; Garcia L ; Ferry A ; Luquet S ; Billat V ; Bendahan D ; Ventura-Clapier R ; Schuelke M ; Amthor H | 2011The function of myostatin to restrict growth of the body musculature is often regarded as disadvantageous, because muscle prowess commonly associates with health and fitness.Here, we show that larger skeletal muscle that developed in absence of [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gentil C ; Mouisel E ; Amthor H ; Ferry A ; Voit T ; Garcia L ; Pietri Rouxel F | AFM-TELETHON | 2011In skeletal muscle, the _1 S subunit of the DHPR calcium channel functions both as the L-type Ca2+ channel and the voltage sensor for excitation-contraction coupling. We have combined optimized U7snRNA and gene transfer to achieve long-lasting d[...]Article
François V ; Klein AF ; Beley C ; Jollet A ; Lemercier C ; Garcia L ; Furling D | 01/2011Accès au résumé PubMed / to PubMed abstract 04/05/2011 - Les snARN U7 humains ciblent spécifiquement les ARN mutés dans la dystrophie myotonique de type 1 La dystrophie myotonique de type 1 (DM1) ou de Steinert est liée à une répé[...]Article
Dallérac G ; Perronnet C ; Chagneau C ; Leblanc-Veyrac P ; Samson-Desvignes N ; Peltékian E ; Danos O ; Garcia L ; Laroche S ; Billard JM ; Vaillend C | 2011Accès au résumé PubMed / to PubMed abstractArticle
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Denard J ; Beley C ; Kotin R ; Samulski J ; Moullier P ; Voit T ; Garcia L ; Svinartchouk F | 2011Despite the well-established safety and efficacy of rAAV vectors for in vivo gene transfer, there is still little information concerning the fate of vectors after systemic delivery. By using a proteomic approach, we screened for serum proteins i[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vassilopoulos S ; Gentil C ; Laine J ; Buclez PO ; Brodsky F ; Bonne G ; Voit T ; Garcia L ; Pietri Rouxel F ; Bitoun M | AFM-TELETHON | 2011Clathrin CHC17, the ubiquitous clathrin heavy chain encoded on human chromosome 17, is the main component of clathrin coated vesicles (CCV), well characterized for its role in vesicle formation during endocytosis of membrane receptors from the p[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Robin V ; Ittig D ; Voit T ; Leumann CJ ; Garcia L | AFM-TELETHON | 2011Spinal muscular atrophy is a recessive disease caused by mutations in the SMN1 gene, which encodes a protein (SMN) involved in RNA processing whose absence dramatically affects the survival of motor neurons. In Man, the severity of the disease i[...]Article
Farini A ; Belicchi M ; Parolini D ; Sitzia C ; Cassinelli L ; Del Fraro G ; Razini P ; Angeloni V ; Jardim L ; da Silva Bizario J ; Garcia L ; Torrente I | AFM-TELETHON | 2011In DMD, skeletal and cardiac muscles are affected, leading to wheelchair dependency, respiratory failure and premature death. Recent advances have pointed out a variety of possible therapeutic approaches. A combination of these strategies might [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Barthelemy F ; N.Wein ; Krahn M ; Courrier S ; Leturcq F ; Avril A ; Mouly V ; Garcia L ; Bartoli M | 2011Mutations in gene encoding dysferlin (DYSF, Chr. 2p13; 55 exons, mRNA 6,2kb) causes Limb Girdle Muscular Dystrophy type 2B and Miyoshi myopathy. Both diseases are autosomic recessive diseases with an age of onset at the early adulthood, associat[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lorain S ; Peccate C ; Le Hir M ; Griffith G ; Voit T ; Garcia L | 2011Mutations in the dystrophin gene cause Duchenne muscular dystrophy, the most common severe childhood muscular pathology. With antisense sequences linked to a modified U7 small nuclear RNA, we achieved persistent exon skipping that removes the mu[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Philippi S ; Lorain S ; Zacharias U ; Marg A ; Bartoli M ; Krahn M ; Bigot B ; Mouly V ; Spuler S ; Garcia L | 2011Mutations in the gene encoding dysferlin cause Limb Girdle Muscular Dystrophy Type 2B (LGMD2B) and Miyoshi Myopathy (MM). While LGMD2B leads to muscle weakness and atrophy in proximal muscles of the limb girdle regions, MM mainly affects posteri[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Etienne M ; Hoogaars W ; Relizani K ; Hourde C ; Precigout G ; Ferry A ; Garcia L ; Ritvos O ; Hoen P ; Amthor H | 2011Myostatin and homologous molecules restrain growth of skeletal muscle by signalling via the transmembrane Activin-receptor-IIB (ActRIIB). Treatment with soluble ActRIIB-Fc fusion protein sequesters ActRIIB-ligands, which inhibits signal transduc[...]Article
Accès au résumé PubMed / to PubMed abstract Accès au résumé PubMed / to PubMed abstract 01/02/2011 - Succès de la méthode de double trans-épissage pour réparer des gènes de la dystrophine mutée La dystrophie de Duchenne (DM[...]