Results 81 to 90 of about 240,839 (324)

Dysferlin Exon 32 Skipping in Patient Cells [PDF]

, 2018
Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize the skipping of exon 32 at the RNA and protein levels using an antisense oligonucleotide on cells derived from a dysferlinopathy-affected patient.
Barthelemy, Florian, Courrier, Sebastien, Lévy, Nicolas, Krahn, Martin, Bartoli, Marc   +4 more
openaire   +5 more sources

Exon Skipping in a Dysf-Missense Mutant Mouse Model [PDF]

Molecular Therapy - Nucleic Acids, 2018
Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and progressive muscle wasting.
Rachid Benchaouir, Andreas Marg, Andreas Marg, Aurélie Goyenvalle, Michael Bader, Jakub Malcher, Jakub Malcher, Simone Spuler, Verena Schöwel, Luis Garcia, Helena Escobar, Cyriaque Beley, Leonie Victoria Heidt, Leonie Victoria Heidt   +13 more
openaire   +5 more sources

Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping

JAMA Neurology, 2020
Key Points Question What are the safety, tolerability, and efficacy of viltolarsen in boys with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping?
P. Clemens, V. Rao, A. Connolly, A. Harper, J. Mah, E. Smith, C. McDonald, C. Zaidman, L. Morgenroth, H. Osaki, Y. Satou, T. Yamashita, E. Hoffman   +12 more
semanticscholar   +1 more source

Exons, introns and DNA thermodynamics [PDF]

Phys. Rev. Lett. 94, 178101 (2005), 2004
The genes of eukaryotes are characterized by protein coding fragments, the exons, interrupted by introns, i.e. stretches of DNA which do not carry any useful information for the protein synthesis. We have analyzed the melting behavior of randomly selected human cDNA sequences obtained from the genomic DNA by removing all introns. A clear correspondence
arxiv   +1 more source

Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene

Molecular Therapy - Nucleic Acids, 2014
Duchenne muscular dystrophy is a severe muscle-wasting disease caused by mutations in the dystrophin gene that ablate functional protein expression. Although exonic deletions are the most common Duchenne muscular dystrophy lesion, duplications account for 10-15% of reported disease-causing mutations, and exon 2 is the most commonly duplicated exon ...
K. Greer, K. Greer, Steve D. Wilton, Steve D. Wilton, Sue Fletcher, Sue Fletcher, Kevin M. Flanigan, Hanns Lochmüller   +7 more
openaire   +4 more sources

Posttranslational regulation of the exon skipping machinery controls aberrant splicing in leukemia.

Cancer Discovery, 2020
Splicing alterations are common in disease, such as cancer, where mutations in splicing factor genes are frequently responsible for aberrant splicing. Here we present an alternative mechanism for splicing regulation in T cell acute lymphoblastic leukemia
Yalu Zhou, Cuijuan Han, E. Wang, Adam H Lorch, V. Serafin, Byoung-Kyu Cho, Blanca T Guttierrez Diaz, J. Calvo, Celestia Fang, A. Khodadadi-Jamayran, Tommaso Tabaglio, Christian Marier, A. Kuchmiy, Limin Sun, George Yacu, S. K. Filip, Q. Jin, Yoh-hei Takahashi, David R. Amici, E. Rendleman, Radhika Rawat, S. Bresolin, M. Paganin, Cheng Zhang, Hu Li, I. Kandela, Y. Politanska, H. Abdala-Valencia, Marc L. Mendillo, P. Zhu, Bruno Palhais, P. Van Vlierberghe, T. Taghon, I. Aifantis, Y. Goo, E. Guccione, A. Heguy, A. Tsirigos, K. Wee, Rama K. Mishra, F. Pflumio, B. Accordi, G. Basso, P. Ntziachristos   +43 more
semanticscholar   +1 more source

CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies

WIREs Mechanisms of Disease, Volume 15, Issue 1, January/February 2023., 2023
CRISPR‐Cas9 gene‐editing technology enables the rapid generation of animal models for Duchenne muscular dystrophy research and has potential to be developed as CRISPR therapy for the long lasting genetic correction of causal mutations. Abstract CRISPR gene‐editing technology creates precise and permanent modifications to DNA.
Yu C. J. Chey, Jayshen Arudkumar, Annemieke Aartsma‐Rus, Fatwa Adikusuma, Paul Q. Thomas   +4 more
wiley   +1 more source

tRNA-isoleucine-tryptophan Composite Gene [PDF]

Biochemical and biophysical Research Communications 339 (2005) 37-40, 2005
Transfer-RNA genes in archaea often have introns intervening between exon sequences. The structural motif at the boundary between exon and intron is the bulge-helix-bulge. Computational investigations of these boundary structures in H. marismortui lead us to propose that tRNA-isoleucine and tRNA-tryptophan genes are co-located.
arxiv   +1 more source

Exon skipping in human β-casein

Genomics, 1992
Earlier amino acid alignments of mature beta-caseins showed that the human protein was shifted in alignment relative to other species, with amino acid deletions in the N-terminal region and others inserted in the C-terminal region. Our alignment, based on cDNA sequences and their translation products, has shown that the amino acid deletions correspond ...
Ying-Fon Chang, Kathleen F. Jeffers, Ravi S. Menon, Richard G. Ham   +3 more
openaire   +3 more sources

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy

Human Genetics, 2020
Duchenne muscular dystrophy (DMD) is caused by a nonsense or frameshift mutation in the DMD gene, while its milder form, Becker muscular dystrophy (BMD) is caused by an in-frame deletion/duplication or a missense mutation.
M. Okubo, S. Noguchi, S. Hayashi, Harumasa Nakamura, H. Komaki, M. Matsuo, I. Nishino   +6 more
semanticscholar   +1 more source