Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Russell D, Johnsen"'
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 22, Iss , Pp 263-272 (2020)
Dystrophin plays a crucial role in maintaining sarcolemma stability during muscle contractions, and mutations that prevent the expression of a functional protein cause Duchenne muscular dystrophy (DMD). Antisense oligonucleotide-mediated manipulation
Externí odkaz:
https://doaj.org/article/5194b4eb8cc142648cdf40c35c8296d1
Autor:
Kelly M. Martinovich, Anthony Kicic, Stephen M. Stick, Russell D. Johnsen, Sue Fletcher, Steve D. Wilton
Publikováno v:
Frontiers in Pharmacology, Vol 13 (2022)
Introduction: Severity and disease progression in people with Cystic Fibrosis (CF) is typically dependent on their genotype. One potential therapeutic strategy for people with specific mutations is exon skipping with antisense oligonucleotides (AO).
Externí odkaz:
https://doaj.org/article/a0021259ab664828891fea13507550e8
Publikováno v:
Methods in Molecular Biology ISBN: 9781071627716
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::36c967ce74bf5971bdd3553b8d540206
https://doi.org/10.1007/978-1-0716-2772-3_14
https://doi.org/10.1007/978-1-0716-2772-3_14
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 2587
The mutation c.-32-13TG in the GAA gene impacts normal exon 2 splicing and is found in two-thirds of late-onset Pompe disease cases. We have explored a therapeutic strategy using splice modulating phosphorodiamidate morpholino oligomers to enhance GA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3a3fb4950c1b18438022eac9d8960a2a
https://pubmed.ncbi.nlm.nih.gov/36401034
https://pubmed.ncbi.nlm.nih.gov/36401034
Autor:
Steve D. Wilton, Michel Tchan, Sue Fletcher, May T. Aung-Htut, Kristin A. Ham, Frederick J. Schnell, Russell D. Johnsen
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Scientific Reports
Scientific Reports
Pompe disease is caused by mutations in the GAA gene, resulting in deficient lysosomal acid-α-glucosidase activity in patients, and a progressive decline in mobility and respiratory function. Enzyme replacement therapy is one therapeutic option, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baa4a767db12372d72f63a7d949ec7d6
http://link.springer.com/article/10.1038/s41598-020-63461-2
http://link.springer.com/article/10.1038/s41598-020-63461-2
Autor:
Yue-Bei Luo, Chalermchai Mitrpant, Abbie M Adams, Russell D Johnsen, Sue Fletcher, Frank L Mastaglia, Steve D Wilton
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e98306 (2014)
We sought to use splice-switching antisense oligonucleotides to produce a model of accelerated ageing by enhancing expression of progerin, translated from a mis-spliced lamin A gene (LMNA) transcript in human myogenic cells. The progerin transcript (
Externí odkaz:
https://doaj.org/article/9add1f9fedcb42bf851408035e7bef7b
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 4511, p 4511 (2020)
Volume 21
Issue 12
International Journal of Molecular Sciences, Vol 21, Iss 4511, p 4511 (2020)
Volume 21
Issue 12
Duchenne muscular dystrophy (DMD) is a severe muscle wasting disease typically caused by protein-truncating mutations that preclude synthesis of a functional dystrophin. Exonic deletions are the most common type of DMD lesion, however, whole exon dup
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5692fc913169397124c5e5960193c742
http://europepmc.org/articles/PMC7350004
http://europepmc.org/articles/PMC7350004
Autor:
Kerrie L Foyle, Steve D. Wilton, Iain Comerford, Sue Fletcher, May T. Aung-Htut, Russell D. Johnsen
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
With recent approvals of antisense oligonucleotides as therapeutics, there is an increasing interest in expanding the application of these compounds to many other diseases. Our laboratory focuses on developing therapeutic splice modulating antisense
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a5cf3a15901d5a0a830bc3a20d12f6a
https://doi.org/10.1038/s41598-019-49385-6
https://doi.org/10.1038/s41598-019-49385-6
Publikováno v:
US Neurology. 15:40
The Duchenne muscular dystrophy community has recently seen the first approved therapy for the restoration of dystrophin, based on its ability to increase levels of dystrophin protein, as determined by western blot. The approval, along with the initi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bb50ff73d64b5a2576521cd2bd3ebc6b
https://doi.org/10.17925/usn.2019.15.1.40
https://doi.org/10.17925/usn.2019.15.1.40
Autor:
Steve D. Wilton, Frank L. Mastaglia, Victoria A. Fabian, Sue Fletcher, Russell D. Johnsen, Yue-Bei Luo, Merrilee Needham, Lisa M. Griffiths
Publikováno v:
International Journal of Experimental Pathology. 94:418-425
The aim of this study is to determine whether primary over-expression of AβPP in skeletal muscle results in the development of features of inclusion body myositis (IBM) in a new lineage of the MCK-AβPP transgenic mouse. Quantitative histological, i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e682f5ba72240746854b6a81257b4135
https://doi.org/10.1111/iep.12048
https://doi.org/10.1111/iep.12048