Mouse models of SMA: tools for disease characterization and therapeutic development (Q38006384)

26 August 2017

title

Mouse models of SMA: tools for disease characterization and therapeutic development (English)

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26 August 2017

Thomas W Bebee

1

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26 August 2017

Catherine E Dominguez

series ordinal

2

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26 August 2017

Dawn S Chandler

series ordinal

3

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26 August 2017

publication date

29 April 2012

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26 August 2017

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26 August 2017

volume

131

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26 August 2017

issue

8

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26 August 2017

page(s)

1277-1293

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

26 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Splicing of the Survival Motor Neuron genes and implications for treatment of SMA

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

A negatively acting bifunctional RNA increases survival motor neuron both in vitro and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

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/10.1007%2FS00439-012-1171-5

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

A mouse model for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

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/10.1007%2FS00439-012-1171-5

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/10.1007%2FS00439-012-1171-5

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Temporal requirement for high SMN expression in SMA mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

A SMNDelta7 read-through product confers functionality to the SMNDelta7 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Detection of human survival motor neuron (SMN) protein in mice containing the SMN2 transgene: applicability to preclinical therapy development for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Embryonic motor axon development in the severe SMA mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Animal models of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Spinal muscular atrophy: new and emerging insights from model mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

The genetic component in child mortality

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Spinal muscular atrophy: clinical classification and disease heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Multiple therapeutic effects of valproic acid in spinal muscular atrophy model mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for Spinal Muscular Atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

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/10.1007%2FS00439-012-1171-5

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

Spinal muscular atrophy--clinical and genetic correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1171-5

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

21 January 2018

1 reference

12 December 2020

A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients

1 reference

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

1 reference

12 December 2020

Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy

1 reference

12 December 2020

Decreasing disease severity in symptomatic, Smn(-/-);SMN2(+/+), spinal muscular atrophy mice following scAAV9-SMN delivery

1 reference

12 December 2020

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

1 reference

12 December 2020

Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III

1 reference

12 December 2020

Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Treatment of spinal muscular atrophy by sodium butyrate

1 reference

12 December 2020

Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model

1 reference

12 December 2020

Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy

1 reference

12 December 2020

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

1 reference

12 December 2020

Bifunctional RNAs targeting the intronic splicing silencer N1 increase SMN levels and reduce disease severity in an animal model of spinal muscular atrophy

1 reference

12 December 2020

10.1007/S00439-012-1171-5

Identifiers

DOI

1 reference

Dimensions Publication ID

26 August 2017

1023258083

0 references

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