Exon edited dystrophin rods in the hinge 3 region
| Autor: | Khushdeep Mangat, Neha Sahni, Elisabeth Le Rumeur, Nick Menhart |
|---|---|
| Přispěvatelé: | Division of Biology, Illinois Institute of Technology (IIT), Structures et interactions moléculaires, Interactions cellulaires et moléculaires (ICM), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), De Villemeur, Hervé |
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Duchenne muscular dystrophy
Protein Denaturation congenital hereditary and neonatal diseases and abnormalities Exon-skipping Biophysics [SDV.GEN] Life Sciences [q-bio]/Genetics Biology Biochemistry Analytical Chemistry Dystrophin 03 medical and health sciences Exon 0302 clinical medicine Retinal Rod Photoreceptor Cells Lipid binding medicine Humans Cloning Molecular Molecular Biology 030304 developmental biology Therapeutic strategy [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism Genetics 0303 health sciences [SDV.GEN]Life Sciences [q-bio]/Genetics Exons Lipid [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism medicine.disease Exon skipping 3. Good health Antisense oligonucleotides biology.protein Cancer research Stability 030217 neurology & neurosurgery |
| Zdroj: | BBA-Biochimica et Biophysica Acta BBA-Biochimica et Biophysica Acta, Elsevier, 2012, 1824 (10), pp.1080-1089. ⟨10.1016/j.bbapap.2012.06.011⟩ BBA-Biochimica et Biophysica Acta, 2012, 1824 (10), pp.1080-1089. ⟨10.1016/j.bbapap.2012.06.011⟩ |
| ISSN: | 0006-3002 |
| Popis: | International audience; We have studied the properties of a panel of proteins engineered to be end-products of envisioned exon skipping therapy by antisense oligonucleotides, AONs, directed at exon 51 applied to relevant dystrophin defects causing Duchenne muscular dystrophy, DMD. Exon skipping therapy is a leading therapeutic strategy being investigated for the treatment of this devastating genetic disease. AONs targeting exon 51 have progressed furthest in human clinical trials. Exon 51 skipping is applicable to a variety of dystrophin defects found in different patients. Due to the differences in original defect, the end result of the therapy will be different in each case. An open question is whether these differences will produce significant differences in the dystrophin protein so edited. In this study we have identified differences in the stability, structure and lipid binding properties of these end-product proteins produced by exon 51 skipping repair. |
| Databáze: | OpenAIRE |
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