New developments in exon skipping and splice modulation therapies for neuromuscular diseases (Q38195295)

30 August 2017

1 reference

title

New developments in exon skipping and splice modulation therapies for neuromuscular diseases (English)

1 reference

30 August 2017

Toshifumi Yokota

3

1 reference

ORCID Public Data File 2021

author name string

Aleksander Touznik

series ordinal

1

1 reference

PubMed ID

24620745

30 August 2017

Joshua J A Lee

series ordinal

2

1 reference

PubMed ID

24620745

30 August 2017

language of work or name

English

0 references

publication date

12 March 2014

1 reference

Expert Opinion on Biological Therapy

30 August 2017

1 reference

30 August 2017

14

1 reference

30 August 2017

6

1 reference

30 August 2017

809-819

1 reference

Antisense therapy in neurology

30 August 2017

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Antisense gene therapy for neurodegenerative disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Preclinical PK and PD studies on 2'-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Gene knockdowns in adult animals: PPMOs and vivo-morpholinos

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Morpholino antisense oligomers: design, preparation, and properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Systemic administration of PRO051 in Duchenne's muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

A renaissance for antisense oligonucleotide drugs in neurology: exon skipping breaks new ground

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Evaluation of cell-penetrating peptides (CPPs) as vehicles for intracellular delivery of antisense peptide nucleic acid (PNA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Effects of a trinucleotide ethyl phosphotriester, Gmp(Et)Gmp(Et)U, on mammalian cells in culture

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Recent approaches to intracellular delivery of drugs and DNA and organelle targeting

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Restoring dystrophin expression in duchenne muscular dystrophy muscle progress in exon skipping and stop codon read through

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Toll-like receptor control of the adaptive immune responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Biological barriers to therapy with antisense and siRNA oligonucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Targeting RNA to treat neuromuscular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Oral corticosteroids and onset of cardiomyopathy in Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Muscle diseases: the muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Function and genetics of dystrophin and dystrophin-related proteins in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Plasma membrane cytoskeleton of muscle: a fine structural analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Clinical and molecular overlap between myopathies and inherited connective tissue diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Antisense-mediated modulation of splicing: therapeutic implications for Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Somatic reversion/suppression of the mouse mdx phenotype in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Mutation types and aging differently affect revertant fiber expansion in dystrophic mdx and mdx52 mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Antisense oligo-mediated multiple exon skipping in a dog model of duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Bodywide skipping of exons 45-55 in dystrophic mdx52 mice by systemic antisense delivery

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Eteplirsen for the treatment of Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Splice modulating therapies for human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Dysferlin is a plasma membrane protein and is expressed early in human development

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Defective membrane repair in dysferlin-deficient muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Dysferlin in membrane trafficking and patch repair.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound-healing

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Characterization of lipid binding specificities of dysferlin C2 domains reveals novel interactions with phosphoinositides

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Dysferlin and the plasma membrane repair in muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Dysferlin and animal models for dysferlinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Limb–girdle muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Late onset in dysferlinopathy widens the clinical spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Modular dispensability of dysferlin C2 domains reveals rational design for mini-dysferlin molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

The Fukuyama congenital muscular dystrophy story

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Age and origin of the FCMD 3'-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Skipping multiple exons of dystrophin transcripts using cocktail antisense oligonucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Antisense drug discovery and development

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

CPP-directed oligonucleotide exon skipping in animal models of Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2014.896335

10.1517/14712598.2014.896335

21 January 2018

Identifiers

DOI

1 reference

30 August 2017

1 reference

PubMed ID

24620745