Luis Garcı́a

University of California, San Francisco

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Mario Dı́az

Universidad de Oviedo

Aurélie Goyenvalle

Université de Versailles Saint-Quentin-en-Yvelines

Olivier Danos

Regenxbio (United States)

Mónica Herrero

Servicio Diabetología Hospital Córdoba

Thomas Voït

University of Bayreuth

Gloria Blanco

Universidad de Oviedo

Cyriaque Beley

Inserm

Helge Amthor

Université de Versailles Saint-Quentin-en-Yvelines

Aida Sarmiento-Vizcaíno

Universidad de Oviedo

Stéphanie Lorain

Centre de Recherche en Myologie

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Inserm

294

Centre National de la Recherche Scientifique

250

Sorbonne Université

129

Université Paris Cité

107

Institut de Myologie

Instituto de Salud Carlos III

Universidad de Oviedo

Centre de Recherche en Myologie

Université Paris-Saclay

Université de Versailles Saint-Quentin-en-Yvelines

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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

Human Mutation (2006)

Christophe Béroud Sylvie Tuffery‐Giraud Masafumi Matsuo Dalil Hamroun Véronique Humbertclaude

Approximately two-thirds of Duchenne muscular dystrophy (DMD) patients show intragenic deletions ranging from one to several exons of the DMD gene and leading to a premature stop codon. Other deletions that maintain the translational reading frame of the gene result in the milder Becker muscular dystrophy (BMD) form of the disease. Thus the opportunity to transform a DMD phenotype into a BMD phenotype appeared as a new treatment strategy with the development of antisense oligonucleotides technology, which is able to induce an exon skipping at the pre-mRNA level in order to restore an open reading frame. Because the DMD gene contains 79 exons, thousands of potential transcripts could be produced by exon skipping and should be investigated. The conventional approach considers skipping of a single exon. Here we report the comparison of single- and multiple-exon skipping strategies based on bioinformatic analysis. By using the Universal Mutation Database (UMD)-DMD, we predict that an optimal multiexon skipping leading to the del45-55 artificial dystrophin (c.6439_8217del) could transform the DMD phenotype into the asymptomatic or mild BMD phenotype. This multiple-exon skipping could theoretically rescue up to 63% of DMD patients with a deletion, while the optimal monoskipping of exon 51 would rescue only 16% of patients.

Exon skipping

Stop codon

10.1002/humu.20428

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Citations (186)

Cell modulation of hydrophobic tailed 16S acetylcholinesterase by intracellular calcium in rat superior cervical ganglion neurons

Neuroscience Letters (1990)

Martine Verdière‐Sahuqué Danièle Goudou Luis Garcı́a M.‐A. Nicolet François Rieger

Tunicamycin

Calcium in biology

Superior cervical ganglion

10.1016/0304-3940(90)90688-6

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Citations (7)

Entrenamiento mediante sprints repetidos en futbolistas: Efectos sobre la capacidad de repetir sprint, salto y tiempo de reacción

Cultura Ciencia y Deporte (2021)

Iván Izquierdo Luis Garcı́a Javier Raya-González Daniel Castillo Javier Sánchez-Sánchez

espanolEl entrenamiento de sprint repetidos parece ser una estrategia eficiente para el desarrollo simultaneo de diferentes componentes de la condicion fisica en deportes intermitentes. El objetivo del presente estudio fue analizar los efectos de suplementar el entrenamiento habitual, mediante un entrenamiento basado en sprint repetidos, sobre la capacidad de repetir sprints (RSA), el tiempo de reaccion en situacion de fatiga y la capacidad de salto. Para ello veintisiete jovenes futbolistas (edad 17.7 ± 0.7 anos) fueron divididos en dos grupos y asignados a un grupo de entrenamiento (GER, n = 14) y a un grupo control (GC, n = 13). Ambos grupos realizaron cuatro semanas de identico entrenamiento, para posteriormente realizar cuatro semanas de la intervencion especifica GER (entrenamiento habitual mas 3 sesiones semanales realizando 2 series de 8 repeticiones sobre 10-30 metros a la maxima intensidad) y continuar con el entrenamiento habitual GC durante las 4 ultimas semanas de la temporada. No se mostraron efectos significativos en la mejora del tiempo medio (TE = -0.17; Posible Trivial) y el decrecimiento (TE = -0.11; poco claro) del test RSA, ni en la diferencia entre el tiempo de reaccion del sprint 1 y 8 de un test RSA antes y despues de la intervencion (TE = 0.27; poco claro) mediante sprint repetidos. La suplementacion del entrenamiento mediante sprint repetidos al final del macrociclo competitivo no mostro efectos significativos en la mejora del RSA ni en el tiempo de reaccion en jovenes futbolistas. English Repeated sprint training appears to be an efficient strategy for the simultaneous development of different fitness components in intermittent sport. The aim of this study was to analyze the effects of implement training with repeated sprint training on repeated sprint ability (RSA), reaction time in fatigue condition and jump height. Twenty-seven young soccer players (age 17.7 ± 0.7 years) were assigned to intervention group (GER, n = 14) and control group (GC, n = 13). Both groups perform over four weeks the identical training program with the objective that the previous training did not condition the results and later, GER implement the habitual training with specific intervention (habitual training plus 3 weekly sessions, 2 sets of 8 repetitions on 10-30 meters at maximum intensity) and GC continue with habitual training over the last four weeks of the competitive period. Repeated sprint training not shown significant improvement in mean time (TE = -0.17, Possible Trivial) and decrement (TE = -0.11, unclear) obtained in an RSA test, nor in the difference between the reaction time of sprint 1 and 8 of an RSA test before and after the intervention (TE = 0.27; Clear). The implementation of the habitual training by RST at the end of the competitive season has not shown significant positive effects in the RSA nor in the reaction time in young players.

Sprint

10.12800/ccd.v16i49.1264

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Citations (2)

The Status of Exon Skipping as a Therapeutic Approach to Duchenne Muscular Dystrophy

Molecular Therapy (2010)

Qilong Lu Toshifumi Yokota Shin’ichi Takeda Luis Garcı́a Francesco Muntoni

Duchenne muscular dystrophy (DMD) is associated with mutations in the dystrophin gene that disrupt the open reading frame whereas the milder Becker's form is associated with mutations which leave an in-frame mRNA transcript that can be translated into a protein that includes the N- and C- terminal functional domains. It has been shown that by excluding specific exons at, or adjacent to, frame-shifting mutations, open reading frame can be restored to an out-of-frame mRNA, leading to the production of a partially functional Becker-like dystrophin protein. Such targeted exclusion can be achieved by administration of oligonucleotides that are complementary to sequences that are crucial to normal splicing of the exon into the transcript. This principle has been validated in mouse and canine models of DMD with a number of variants of oligonucleotide analogue chemistries and by transduction with adeno-associated virus (AAV)-small nuclear RNA (snRNA) reagents encoding the antisense sequence. Two different oligonucleotide agents are now being investigated in human trials for splicing out of exon 51 with some early indications of success at the biochemical level.

Exon skipping

10.1038/mt.2010.219

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Citations (105)

P.286Restoration of dystrophin at critical sites of expression following exon skipping

Neuromuscular Disorders (2019)

Helge Amthor Amalia Stantzou Mina Petkova Antoine Morin Aurélie Goyenvalle

Sarcolemma

Utrophin

mdx mouse

Exon skipping

10.1016/j.nmd.2019.06.400

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Citations (0)

72. Effective Limb Transduction and Phenotypic Correction after Injection of rAAV8-U7 snRNA in GRMD Dogs

Molecular Therapy (2011)

Caroline Le Guiner Marie Montus Laurent Servais Luis Garcı́a Yves Fromes

Transduction (biophysics)

Small nuclear RNA

10.1016/s1525-0016(16)36644-8

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Citations (1)

Doñana. Acta vertebrata. vol 6(1)

Luis Felipe López‐Jurado Lidia Dos-Santos Carmen Díaz‐Paniagua José A. Torres-Esquivias Amparo León

Source

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Taking Advantage of Temperature Changes to Determine the Progress of a Cider Fermentation

Journal of the Institute of Brewing (2002)

Carlos de la Roza Adriana Laca Luis Garcı́a Mario Dı́az

New, simpler and cheaper tools are necessary to properly control fermentation processes at the industrial level. In this paper, a simple method to calculate a major parameter, ethanol concentration, at any time in the fermentation medium by measuring only the temperature evolution, has been developed and successfully applied to industrial cider fermentation.

10.1002/j.2050-0416.2002.tb00118.x

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Citations (4)

Three-step biological process for the treatment of the liquid fraction of cattle manure

Bioresource Technology (2008)

E. Marañón L. Castrillón Luis Garcı́a Isaac Vázquez Y. Fernández-Nava

Kjeldahl method

Fraction (chemistry)

10.1016/j.biortech.2008.01.065

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Citations (6)

Expression of mdr1 is required for efficient long term regeneration of dystrophic muscle