A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse (Q34241874)

31 July 2017

title

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse (English)

1 reference

31 July 2017

main subject

spinal muscular atrophy

1 reference

1 reference

Paul N Porensky

1

1 reference

31 July 2017

Chalermchai Mitrpant

2

1 reference

31 July 2017

Vicki L McGovern

3

1 reference

31 July 2017

Adam K Bevan

4

1 reference

31 July 2017

Kevin D Foust

5

1 reference

31 July 2017

Brain K Kaspar

6

1 reference

31 July 2017

Stephen D Wilton

7

1 reference

31 July 2017

Arthur H M Burghes

8

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31 July 2017

publication date

20 December 2011

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31 July 2017

published in

Human Molecular Genetics

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31 July 2017

volume

21

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31 July 2017

issue

7

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31 July 2017

page(s)

1625-1638

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

31 July 2017

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One-year treatment of morpholino antisense oligomer improves skeletal and cardiac muscle functions in dystrophic mdx mice

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Cardiac defects contribute to the pathology of spinal muscular atrophy models

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Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

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6 July 2018

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6 July 2018

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6 July 2018

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Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy

6 July 2018

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Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

6 July 2018

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A positive modifier of spinal muscular atrophy in the SMN2 gene

6 July 2018

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Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

6 July 2018

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6 July 2018

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A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

6 July 2018

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Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy

6 July 2018

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Regulation of SMN protein stability

6 July 2018

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6 July 2018

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SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing

6 July 2018

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6 July 2018

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Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

6 July 2018

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Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Medical considerations of long-term survival of Werdnig-Hoffmann disease

6 July 2018

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6 July 2018

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Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy

6 July 2018

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Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron

6 July 2018

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Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.

6 July 2018

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Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

6 July 2018

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6 July 2018

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A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.

6 July 2018

1 reference

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Essential role for the SMN complex in the specificity of snRNP assembly

6 July 2018

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Directed differentiation of embryonic stem cells into motor neurons

6 July 2018

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Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

6 July 2018

1 reference

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Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

6 July 2018

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The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

6 July 2018

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6 July 2018

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6 July 2018

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A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

6 July 2018

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A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Correlation between severity and SMN protein level in spinal muscular atrophy

6 July 2018

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6 July 2018

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6 July 2018

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An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

6 July 2018

1 reference

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Identification and characterization of a spinal muscular atrophy-determining gene

6 July 2018

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6 July 2018

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6 July 2018

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A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs

6 July 2018

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Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.

21 January 2018

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Antisense oligonucleotides and spinal muscular atrophy: skipping along.

21 January 2018

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

21 January 2018

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Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology

21 January 2018

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Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs

21 January 2018

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Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival

21 January 2018

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Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

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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Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy

28 October 2018

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28 October 2018

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12 December 2020

Cardiac involvement in Werdnig-Hoffmann's spinal muscular atrophy

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12 December 2020

Repeat-dose toxicology evaluation in cynomolgus monkeys of AVI-4658, a phosphorodiamidate morpholino oligomer (PMO) drug for the treatment of duchenne muscular dystrophy

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12 December 2020

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

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12 December 2020

SMN oligomerization defect correlates with spinal muscular atrophy severity

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12 December 2020

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

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12 December 2020

Finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in patients with progressive spinal muscular atrophy

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12 December 2020

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

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12 December 2020

Newborn and carrier screening for spinal muscular atrophy

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Identifiers

DOI

10.1093/HMG/DDR600

1 reference

31 July 2017

1 reference

31 July 2017

1 reference