Results 1 to 10 of about 48,410 (261)

Analysis of Exon Skipping Applicability for Dysferlinopathies [PDF]

Cells
Exon skipping, mediated through antisense oligonucleotides (ASOs), is a promising approach to exclude pathogenic variants from the DYSF gene and treat dysferlinopathies.
Jamie Leckie, Sebastian Hernandez Rodriguez, Martin Krahn, Toshifumi Yokota   +3 more
doaj   +4 more sources

Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models [PDF]

Molecular Therapy: Nucleic Acids, 2019
Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and slowing disease progression in animal models.
Florian Barthélémy, Richard T. Wang, Christopher Hsu, Emilie D. Douine, Eugene E. Marcantonio, Stanley F. Nelson, M. Carrie Miceli   +6 more
doaj   +3 more sources

Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy [PDF]

BMC Medical Genetics, 2007
Background Antisense-mediated exon skipping is currently one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs) targeting specific exons the DMD reading frame is restored and ...
van Ommen Gert-Jan B, Janson Anneke AM, Aartsma-Rus Annemieke, van Deutekom Judith CT   +3 more
doaj   +4 more sources

SPLICER: a highly efficient base editing toolbox that enables in vivo therapeutic exon skipping [PDF]

Nature Communications
Exon skipping technologies enable exclusion of targeted exons from mature mRNA transcripts, which have broad applications in medicine and biotechnology.
Angelo Miskalis, Shraddha Shirguppe, Jackson Winter, Gianna Elias, Devyani Swami, Ananthan Nambiar, Michelle Stilger, Wendy S. Woods, Nicholas Gosstola, Michael Gapinske, Alejandra Zeballos, Hayden Moore, Sergei Maslov, Thomas Gaj, Pablo Perez-Pinera   +14 more
doaj   +2 more sources

Podocyte specific exon skipping after disease onset improves kidney pathology and function in a mouse model of Alport syndrome [PDF]

Scientific Reports
Alport syndrome (AS) is a hereditary kidney disorder caused by mutations in COL4A3, COL4A4, and COL4A5, which often lead to progressive renal failure.
Kentarou Hashikami, Ryosuke Kobayashi, Ryotaro Hori, Kenta Danbayashi, Yasunori Nio   +4 more
doaj   +2 more sources

BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance [PDF]

Molecular Cancer
PARP inhibitor (PARPi) therapy has transformed outcomes for patients with homologous recombination DNA repair (HRR) deficient ovarian cancers, for example those with BRCA1 or BRCA2 gene defects. Unfortunately, PARPi resistance is common.
Ksenija Nesic, John J. Krais, Yifan Wang, Cassandra J. Vandenberg, Pooja Patel, Kathy Q. Cai, Tanya Kwan, Elizabeth Lieschke, Gwo-Yaw Ho, Holly E. Barker, Justin Bedo, Silvia Casadei, Andrew Farrell, Marc Radke, Kristy Shield-Artin, Jocelyn S. Penington, Franziska Geissler, Elizabeth Kyran, Robert Betsch, Lijun Xu, Fan Zhang, Alexander Dobrovic, Inger Olesen, Rebecca Kristeleit, Amit Oza, Iain McNeish, Gayanie Ratnayake, Nadia Traficante, Australian Ovarian Cancer Study, Anna DeFazio, David D. L. Bowtell, Thomas C. Harding, Kevin Lin, Elizabeth M. Swisher, Olga Kondrashova, Clare L. Scott, Neil Johnson, Matthew J. Wakefield   +37 more
doaj   +2 more sources

Machine learning based CRISPR gRNA design for therapeutic exon skipping.

PLoS Computational Biology, 2021
Restoring gene function by the induced skipping of deleterious exons has been shown to be effective for treating genetic disorders. However, many of the clinically successful therapies for exon skipping are transient oligonucleotide-based treatments that
Wilson Louie, Max W Shen, Zakir Tahiry, Sophia Zhang, Daniel Worstell, Christopher A Cassa, Richard I Sherwood, David K Gifford   +7 more
doaj   +1 more source

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

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