Mutant GABAA receptor subunits in genetic (idiopathic) epilepsy
S Hirose - Progress in brain research, 2014 - Elsevier
The γ-aminobutyric acid receptor type A (GABA A receptor) is a ligand-gated chloride
channel that mediates major inhibitory functions in the central nervous system. GABA A …
channel that mediates major inhibitory functions in the central nervous system. GABA A …
Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells
E Shoji, H Sakurai, T Nishino, T Nakahata, T Heike… - Scientific reports, 2015 - nature.com
Duchenne muscular dystrophy (DMD) is a progressive and fatal muscle degenerating
disease caused by a dystrophin deficiency. Effective suppression of the primary pathology …
disease caused by a dystrophin deficiency. Effective suppression of the primary pathology …
2′-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping
T Lee, H Awano, M Yagi, M Matsumoto, N Watanabe… - Genes, 2017 - mdpi.com
Duchenne muscular dystrophy (DMD) is a fatal muscle-wasting disease characterized by
dystrophin deficiency from mutations in the dystrophin gene. Antisense oligonucleotide (AO) …
dystrophin deficiency from mutations in the dystrophin gene. Antisense oligonucleotide (AO) …
Antisense nucleic acids
N Watanabe, H Seo, S Takeda, T Nagata - US Patent 9,512,424, 2016 - Google Patents
The present invention provides a pharmaceutical agent which causes skipping of the 55th,
45th, 50th or 44th exon in the human dystrophin gene with a high efficiency. The present …
45th, 50th or 44th exon in the human dystrophin gene with a high efficiency. The present …
[PDF][PDF] Phosphorothioate modification of chimeric 2′-o-methyl RNA/ethylene-bridged nucleic acid oligonucleotides increases dystrophin exon 45 skipping capability …
RG Malueka, EK Dwianingsih, M Yagi, T Lee… - Kobe J Med …, 2015 - researchgate.net
ABSTRACT Backgrounds, Antisense oligonucleotide (AO)-mediated exon skipping is the
most promising way to express internally deleted dystrophin in Duchenne muscular …
most promising way to express internally deleted dystrophin in Duchenne muscular …
Microprecision delivery of oligonucleotides in a 3D tissue model and its characterization using optical imaging
Despite significant potential of oligonucleotides (ONs) for therapeutic and diagnostic
applications, rapid and widespread intracellular delivery of ONs in cells situated in tissues …
applications, rapid and widespread intracellular delivery of ONs in cells situated in tissues …
Antisense nucleic acids
N Watanabe, H Seo, S Takeda, T Nagata - US Patent 9,890,381, 2018 - Google Patents
The present invention provides a pharmaceutical agent which causes skipping of the 55th,
45th, 50th or 44th exon in the human dystrophin gene with a high efficiency. The present …
45th, 50th or 44th exon in the human dystrophin gene with a high efficiency. The present …
Pre-mrna splice switching or modulating oligonucleotides comprising bicyclic scaffold moieties, with improved characteristics for the treatment of genetic disorders
JCT Van Deutekom, PC De Visser - 2018 - Google Patents
JLCPHMBAVCMARE-UHFFFAOYSA-N [3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-
oxo-1H-purin-9-yl)-3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[5-(2-amino-6-oxo …
oxo-1H-purin-9-yl)-3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[5-(2-amino-6-oxo …
Antisense nucleic acids
N Watanabe, H Seo, S Takeda, T Nagata - US Patent 10,781,448, 2020 - Google Patents
The present invention provides a pharmaceutical agent which causes skipping of the 55th,
45th, 50th or 44th exon in the human dystrophin gene with a high efficiency. The present …
45th, 50th or 44th exon in the human dystrophin gene with a high efficiency. The present …
[PDF][PDF] GAA splicing in Pompe disease is restored by exon inclusion in expanded iPS cell-derived myotubes
E van der Wal, AJ Bergsma, JM Pijnenburg… - Pre-mRNA Splicing in …, 2016 - repub.eur.nl
Few therapies for human disorders that affect skeletal muscle are available. Correction of
pre-mRNA splicing using antisense oligonucleotides (AONs) is a promising therapeutic …
pre-mRNA splicing using antisense oligonucleotides (AONs) is a promising therapeutic …