Spinal muscular atrophy: mechanisms and therapeutic strategies (Q33871311)

29 July 2017

1 reference

title

Spinal muscular atrophy: mechanisms and therapeutic strategies (English)

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29 July 2017

main subject

spinal muscular atrophy

1 reference

1 reference

Christian L Lorson

1

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29 July 2017

Hansjorg Rindt

series ordinal

2

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29 July 2017

Monir Shababi

series ordinal

3

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29 July 2017

publication date

13 April 2010

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29 July 2017

published in

Human Molecular Genetics

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29 July 2017

volume

19

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29 July 2017

issue

R1

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29 July 2017

page(s)

R111-8

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

29 July 2017

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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

5 July 2018

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5 July 2018

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Phase II open label study of valproic acid in spinal muscular atrophy

5 July 2018

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A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 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

5 July 2018

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

5 July 2018

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Induced pluripotent stem cells from a spinal muscular atrophy patient

5 July 2018

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

5 July 2018

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

5 July 2018

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5 July 2018

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DcpS as a therapeutic target for spinal muscular atrophy

5 July 2018

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The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene

5 July 2018

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5 July 2018

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

5 July 2018

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

5 July 2018

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

5 July 2018

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Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy

5 July 2018

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Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice

5 July 2018

1 reference

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Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

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

5 July 2018

1 reference

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The changing natural history of spinal muscular atrophy type 1

5 July 2018

1 reference

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Modulating the expression of disease genes with RNA-based therapy.

5 July 2018

1 reference

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Restoration of SMN function: delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence

5 July 2018

1 reference

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Unfolding the mystery of alternative splicing through a unique method of in vivo selection

5 July 2018

1 reference

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Protection of visual functions by human neural progenitors in a rat model of retinal disease

5 July 2018

1 reference

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

An intronic element contributes to splicing repression in spinal muscular atrophy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

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

5 July 2018

1 reference

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Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts

5 July 2018

1 reference

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Cellular therapies in motor neuron diseases

5 July 2018

1 reference

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Purkinje neuron degeneration in nervous (nr) mutant mice is mediated by a metabolic pathway involving excess tissue plasminogen activator

5 July 2018

1 reference

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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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs

5 July 2018

1 reference

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Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

Identification of a cis-acting element for the regulation of SMN exon 7 splicing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3' splice site pairing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

Treatment of spinal muscular atrophy by sodium butyrate

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

Animal models of spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

Expression study of survival motor neuron gene in human fetal tissues.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

Identification and characterization of a spinal muscular atrophy-determining gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

Correction of disease-associated exon skipping by synthetic exon-specific activators

5 July 2018

1 reference

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Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ147

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/10.1093%2FHMG%2FDDQ147

Modulation of SMN nuclear foci and cytoplasmic localization by its C-terminus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ147

A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ147

Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ147

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ147

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ147

Human embryonic germ cell derivatives facilitate motor recovery of rats with diffuse motor neuron injury.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875050

An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy

29 October 2018

1 reference

12 December 2020

Motoneuron Transplantation Rescues the Phenotype of SMARD1 (Spinal Muscular Atrophy with Respiratory Distress Type 1)

1 reference

12 December 2020

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

1 reference

12 December 2020

Spinal muscular atrophy: advances in research and consensus on care of patients

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

Identifiers

DOI

10.1093/HMG/DDQ147

1 reference

release_nh6uw7sagffbfidemhmm2uouky

29 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/nh6uw7sagffbfidemhmm2uouky

24 November 2022

mapped directly with Wikidata item

PMC publication ID

2875050

1 reference

29 July 2017

1 reference