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 …

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 …

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) …

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 …

[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 …

Microprecision delivery of oligonucleotides in a 3D tissue model and its characterization using optical imaging

Z Luo, T Ye, Y Ma, HS Gill, N Nitin - Molecular Pharmaceutics, 2013 - ACS Publications
Despite significant potential of oligonucleotides (ONs) for therapeutic and diagnostic
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 …

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 …

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 …

[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 …