Results 11 to 20 of about 30,223 (276)

A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures. [PDF]

PLoS ONE, 2018
BACKGROUND:Duchenne muscular dystrophy is a lethal disease caused by lack of dystrophin. Skipping of exons adjacent to out-of-frame deletions has proven to restore dystrophin expression in Duchenne patients.
Monika Hiller, Maria Sofia Falzarano, Iker Garcia-Jimenez, Valentina Sardone, Ruurd C Verheul, Linda Popplewell, Karen Anthony, Estibaliz Ruiz-Del-Yerro, Hana Osman, Jelle J Goeman, Kamel Mamchaoui, George Dickson, Alessandra Ferlini, Francesco Muntoni, Annemieke Aartsma-Rus, Virginia Arechavala-Gomeza, Nicole A Datson, Pietro Spitali   +17 more
doaj   +1 more source

Effective exon skipping and dystrophin restoration by 2'-o-methoxyethyl antisense oligonucleotide in dystrophin-deficient mice. [PDF]

PLoS ONE, 2013
Antisense oligonucleotide (AO)-mediated exon-skipping therapy is one of the most promising therapeutic strategies for Duchenne Muscular Dystrophy (DMD) and several AO chemistries have been rigorously investigated. In this report, we focused on the effect
Lu Yang, Hongjing Niu, Xianjun Gao, Qingsong Wang, Gang Han, Limin Cao, Chunquan Cai, Jan Weiler, Haifang Yin   +8 more
doaj   +1 more source

Exon-Skipping in Duchenne Muscular Dystrophy

Journal of Neuromuscular Diseases, 2021
Duchenne muscular dystrophy (DMD) is a devastating, rare disease. While clinically described in the 19th century, the genetic foundation of DMD was not discovered until more than 100 years later. This genetic understanding opened the door to the development of genetic treatments for DMD.
Takeda, Shin’ichi, Clemens, Paula R., Hoffman, Eric P.   +2 more
openaire   +3 more sources

Pairwise Engineering of Tandemly Aligned Self-Splicing Group I Introns for Analysis and Control of Their Alternative Splicing

Biomolecules, 2023
Alternative splicing is an important mechanism in the process of eukaryotic nuclear mRNA precursors producing multiple protein products from a single gene.
Tomoki Ueda, Kei-ichiro Nishimura, Yuka Nishiyama, Yuto Tominaga, Katsushi Miyazaki, Hiroyuki Furuta, Shigeyoshi Matsumura, Yoshiya Ikawa   +7 more
doaj   +1 more source

Exon skipping for DMD [PDF]

Orphanet Journal of Rare Diseases, 2012
Duchenne muscular dystrophy (DMD) is a severe, progressive muscle-wasting disorder, while Becker muscular dystrophy (BMD) is milder muscle disease [1]. Both are caused by mutations in dystrophin, a protein, which stabilizes muscle fibers during contraction by linking muscle actin to the extracellular matrix.
Aartsma-Rus, Annemieke, Verschuuren, Jan JGM, Campion, Giles V, van Ommen, Gert-jan B, van Deutekom, Judith CT   +4 more
openaire   +1 more source

Networking to Optimize Dmd exon 53 Skipping in the Brain of mdx52 Mouse Model

Biomedicines, 2023
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene that disrupt the open reading frame and thus prevent production of functional dystrophin proteins. Recent advances in DMD treatment, notably exon skipping and AAV gene therapy, have
Mathilde Doisy, Ophélie Vacca, Claire Fergus, Talia Gileadi, Minou Verhaeg, Amel Saoudi, Thomas Tensorer, Luis Garcia, Vincent P. Kelly, Federica Montanaro, Jennifer E. Morgan, Maaike van Putten, Annemieke Aartsma-Rus, Cyrille Vaillend, Francesco Muntoni, Aurélie Goyenvalle   +15 more
doaj   +1 more source

Long-Term Efficacy of AAV9-U7snRNA-Mediated Exon 51 Skipping in mdx52 Mice

Molecular Therapy: Methods & Clinical Development, 2020
Gene therapy and antisense approaches hold promise for the treatment of Duchenne muscular dystrophy (DMD). The advantages of both therapeutic strategies can be combined by vectorizing antisense sequences into an adeno-associated virus (AAV) vector.
Philippine Aupy, Faouzi Zarrouki, Quentin Sandro, Cécile Gastaldi, Pierre-Olivier Buclez, Kamel Mamchaoui, Luis Garcia, Cyrille Vaillend, Aurélie Goyenvalle   +8 more
doaj   +1 more source

Advances in Dystrophinopathy Diagnosis and Therapy

Biomolecules, 2023
Dystrophinopathies are x-linked muscular disorders which emerge from mutations in the Dystrophin gene, including Duchenne and Becker muscular dystrophy, and dilated cardiomyopathy.
Fawzy A. Saad, Gabriele Siciliano, Corrado Angelini   +2 more
doaj   +1 more source

Origin of exon skipping-rich transcriptomes in animals driven by evolution of gene architecture

Genome Biology, 2018
Background Alternative splicing, particularly through intron retention and exon skipping, is a major layer of pre-translational regulation in eukaryotes.
Xavier Grau-Bové, Iñaki Ruiz-Trillo, Manuel Irimia   +2 more
doaj   +1 more source

Exon Skipping Therapy

Cell, 2016
Exondys 51 is the first therapy for Duchenne muscular dystrophy (DMD) to have been granted accelerated approval by the FDA. Approval was granted based on using dystrophin expression as a surrogate marker. Exondys 51 targets DMD exon 51 for skipping to restore the reading frame for 13% of Duchenne patients.
Courtney S, Young, April D, Pyle
openaire   +2 more sources