Results 11 to 20 of about 49,802 (297)

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   +7 more sources

Insecticide resistance mediated 1 by an exon skipping event [PDF]

Molecular Ecology, 2016
Many genes increase coding capacity by alternate exon usage. The gene encoding the insect nicotinic acetylcholine receptor (nAChR) a6 subunit, target of the bio-insecticide spinosad, is one example of this and expands protein diversity via alternative ...
Bass, Chris, Berger, Madeleine, Bielza, Pablo, Field, Linda M., Hassani-Pak, Keywan, Hughes, David, Mellor, Ian R., Puinean, Alin M., Randall, Emma, Silva, Wellington M., Siqueira, Herbert A.A., Williamson, Martin S., Zimmer, Christoph T.   +12 more
core   +7 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

Multiple exon skipping strategies to by-pass dystrophin mutations. [PDF]

Neuromuscular Disorders, 2011
Manipulation of dystrophin pre-mRNA processing offers the potential to overcome mutations in the dystrophin gene that would otherwise lead to Duchenne muscular dystrophy.
Adams, AM, Adkin, CF, Fletcher, S, Meloni, PL, Muntoni, F, Wilton, SD, Wong, B   +6 more
core   +5 more sources

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.
Annemieke Aartsma-Rus, Judith C.T. van Deutekom, Jan J.G.M. Verschuuren, G. Campion, Gert-Jan B. van Ommen   +4 more
openaire   +2 more sources

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa [PDF]

International Journal of Molecular Sciences, 2021
Epidermolysis bullosa is a group of genetic skin conditions characterized by abnormal skin (and mucosal) fragility caused by pathogenic variants in various genes. The disease severity ranges from early childhood mortality in the most severe types to occasional acral blistering in the mildest types.
Anna M.G. Pasmooij, Henny H. Lemmink, Robert J Sietsma, Morris A. Swertz, Aileen Sandilands, Franciscus C Vermeer, Jeroen Bremer, Nine V A M Knoers, K. Joeri van der Velde, Marieke C. Bolling, Peter C. Van Den Akker, Peter C. Van Den Akker, Robyn P. Hickerson   +12 more
openaire   +5 more sources

Therapeutic exon skipping for dysferlinopathies? [PDF]

European Journal of Human Genetics, 2010
Antisense-mediated exon skipping is a promising therapeutic approach for Duchenne muscular dystrophy (DMD) currently tested in clinical trials. The aim is to reframe dystrophin transcripts using antisense oligonucleotides (AONs). These hide an exon from the splicing machinery to induce exon skipping, restoration of the reading frame and generation of ...
Aartsma-Rus, A., Singh, K.H.K., Fokkema, I.F.A.C., Ginjaar, I.B., Ommen, G.J. van, Dunnen, J.T. den, Maarel, S.M. van der   +6 more
openaire   +4 more sources

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.
Eric P. Hoffman, Shin'ichi Takeda, Paula R. Clemens   +2 more
openaire   +4 more sources

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]

, 2013
Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello, A Lujan Feliu-Pascual, A Razzaq, A Tjondrokoesoemo, A Toussaint, AC Durieux, AH Beggs, AJ Muller, Anne Toussaint, AS Nicot, AY Mejaddam, B Qualmann, B Sinha, Belinda Cowling, BJ Peter, BS Cowling, C Fugier, C Kojima, C Spiegelhalter, CJ McMillan, CR Pierson, D Bansal, D Grabs, D Sakamuro, DJ Owen, E Lee, G Di Paolo, G Ren, G. Diane Shelton, Gregory A. Cox, H Jungbluth, Ivana Prokic, J Bohm, J Laporte, J Weis, JJ Dowling, Joachim Weis, Jocelyn Laporte, Johann Böhm, KC Chang, KG Claeys, L Klinge, Laurent Tiret, M Bitoun, M Maurer, M Pele, Marie Maurer, MH Butler, Nasim Vasli, NB Romero, NC Mao, R Wechsler-Reya, RJ Wechsler-Reya, S Pant, SE Davies, T Itoh, Thomas James Anderson, Ulrike Schara, Wolfram Kress   +58 more
core   +16 more sources

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