Results 11 to 20 of about 51,494 (318)

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa [PDF]

Molecular Therapy: Nucleic Acids, 2019
Dystrophic epidermolysis bullosa (DEB) is a devastating blistering disease affecting skin and mucous membranes. It is caused by pathogenic variants in the COL7A1 gene encoding type VII collagen, and can be inherited dominantly or recessively.
Jeroen Bremer, Elisabeth H. van der Heijden, Daryll S. Eichhorn, Rowdy Meijer, Henny H. Lemmink, Hans Scheffer, Richard J. Sinke, Marcel F. Jonkman, Anna M.G. Pasmooij, Peter C. Van den Akker   +9 more
doaj   +6 more sources

NS-065/NCNP-01: An Antisense Oligonucleotide for Potential Treatment of Exon 53 Skipping in Duchenne Muscular Dystrophy

Molecular Therapy: Nucleic Acids, 2018
Duchenne muscular dystrophy (DMD), the most common lethal heritable childhood disease, is caused by mutations in the DMD gene that result in the absence of functional dystrophin protein.
Naoki Watanabe, Tetsuya Nagata, Youhei Satou, Satoru Masuda, Takashi Saito, Hidetoshi Kitagawa, Hirofumi Komaki, Kazuchika Takagaki, Shin’ichi Takeda   +8 more
doaj   +3 more sources

Translational and Regulatory Challenges for Exon Skipping Therapies [PDF]

Human Gene Therapy, 2014
Several translational challenges are currently impeding the therapeutic development of antisense-mediated exon skipping approaches for rare diseases. Some of these are inherent to developing therapies for rare diseases, such as small patient numbers and ...
Aartsma-Rus, A, Balabanov, P, Bushby, K, Duchenne Parent Project, European Med Agency, Ferlini, A, Ferrara, Italy, Goemans, N, Groningen, Katholieke Univ Leuven, Leiden Uni Medical Center, Newcastle, Pasmooij, A M G, Vroom, E, Wells, D J   +14 more
core   +7 more sources

Exon Skipping Is Correlated with Exon Circularization

Journal of Molecular Biology, 2015
Circular RNAs are found in a wide range of organisms and it has been proposed that they perform disparate functions. However, how RNA circularization is connected to alternative splicing remains largely unexplored. Here, we stimulated primary human endothelial cells with tumor necrosis factor α or tumor growth factor β, purified RNA, generated >2.4 ...
Steven Kelly, Chris Greenman, Peter R. Cook, Argyris Papantonis   +3 more
openalex   +5 more sources

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