Rescue of cardiomyopathy through U7snRNA-mediated exon skipping in Mybpc3-targeted knock-in mice (Q28291547)

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Verena Behrens-Gawlik

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Silke Reischmann

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Doreen Stimpel

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Florian Weinberger

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Guillaume Précigout

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Thomas Eschenhagen

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Thomas Voit

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Patrick A Dreyfus

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Luis Garcia

Increased myofilament Ca2+ sensitivity and diastolic dysfunction as early consequences of Mybpc3 mutation in heterozygous knock-in mice

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language of work or name

English

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publication date

July 2013

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published in

EMBO Molecular Medicine

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volume

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issue

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page(s)

1128-45

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cites work

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Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic function

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Adrenergic stress reveals septal hypertrophy and proteasome impairment in heterozygous Mybpc3-targeted knock-in mice

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A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance

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Cardiac Myosin Binding Protein C Gene Is Specifically Expressed in Heart During Murine and Human Development

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Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein

20 March 2017

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Assembly, nuclear import and function of U7 snRNPs studied by microinjection of synthetic U7 RNA into Xenopus oocytes

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MRI roadmap-guided transendocardial delivery of exon-skipping recombinant adeno-associated virus restores dystrophin expression in a canine model of Duchenne muscular dystrophy.

7 April 2017

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Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping

29 September 2017

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Engineering multiple U7snRNA constructs to induce single and multiexon-skipping for Duchenne muscular dystrophy

29 September 2017

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AAV-based neonatal gene therapy for hemophilia A: long-term correction and avoidance of immune responses in mice

29 September 2017

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Long-term restoration of cardiac dystrophin expression in golden retriever muscular dystrophy following rAAV6-mediated exon skipping

29 September 2017

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Systemic administration of PRO051 in Duchenne's muscular dystrophy

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29 September 2017

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29 September 2017

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29 September 2017

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Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene

29 September 2017

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Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy

29 September 2017

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29 September 2017

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Robust systemic transduction with AAV9 vectors in mice: efficient global cardiac gene transfer superior to that of AAV8.

29 September 2017

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

29 September 2017

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29 September 2017

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Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

29 September 2017

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Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults

29 September 2017

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In vitro evaluation of novel antisense oligonucleotides is predictive of in vivo exon skipping activity for Duchenne muscular dystrophy.

29 September 2017

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Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense

2 June 2018

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Risk for sudden cardiac death associated with marathon running

2 June 2018

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Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides

2 June 2018

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Long-term benefit of adeno-associated virus/antisense-mediated exon skipping in dystrophic mice.

21 January 2018

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Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

21 January 2018

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Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases

21 January 2018

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In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping

21 January 2018

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Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse

21 January 2018

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Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD.

21 January 2018

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Improved cardiac gene transfer by transcriptional and transductional targeting of adeno-associated viral vectors

21 January 2018

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Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

21 January 2018

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In vivo delivery of naked antisense oligos in aged mdx mice: analysis of dystrophin restoration in skeletal and cardiac muscle.

21 January 2018

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Risk for sudden cardiac death associated with marathon running

21 January 2018

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Isoform Transitions of the Myosin Binding Protein C Family in Developing Human and Mouse Muscles

21 January 2018

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Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy

21 January 2018

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Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping

27 November 2018

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12 December 2020

Biochemical complementation with RNA in the Xenopus oocyte: A small rna is required for the generation of 3′ histone mRNA termini

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Percutaneous intravenous injection in neonatal mice

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Local dystrophin restoration with antisense oligonucleotide PRO051

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Identifiers

DOI

10.1002/EMMM.201202168

1 reference

1 reference

1 reference

PubMed publication ID

23716398

1 reference