Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study (Q28730280)

12

object named as

Felicia L Trachtenberg

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author name string

Thomas O Crawford

1

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Sergey V Paushkin

2

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Dione T Kobayashi

3

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Suzanne J Forrest

4

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Cynthia L Joyce

5

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Richard S Finkel

6

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Petra Kaufmann

7

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Danilo Tiziano

9

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Rosa Lomastro

10

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Rebecca H Li

11

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Thomas Plasterer

13

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Karen S Chen

Creative Commons CC0 License

14

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language of work or name

English

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publication date

2012

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published in

PLOS One

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volume

7

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issue

4

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page(s)

e33572

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copyright license

start time

27 April 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

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cites work

Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study

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SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy

17 March 2017

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The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

17 March 2017

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A positive modifier of spinal muscular atrophy in the SMN2 gene

17 March 2017

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SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

17 March 2017

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

17 March 2017

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Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP

17 March 2017

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

17 March 2017

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Modeling spinal muscular atrophy in Drosophila

17 March 2017

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The changing natural history of spinal muscular atrophy type 1

17 March 2017

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

17 March 2017

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Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts

17 March 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy

17 March 2017

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

17 March 2017

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Modeling spinal muscular atrophy in Drosophila links Smn to FGF signaling

17 March 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

TIA1 prevents skipping of a critical exon associated with spinal muscular atrophy

3 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

Conserved genes act as modifiers of invertebrate SMN loss of function defects

3 June 2018

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

3 June 2018

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

3 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

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

3 June 2018

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

3 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

Robust quantification of the SMN gene copy number by real-time TaqMan PCR.

3 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials

3 June 2018

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A novel cell immunoassay to measure survival of motor neurons protein in blood cells

3 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

Concerns about the design of clinical trials for spinal muscular atrophy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

Characterization of functional domains of the SMN protein in vivo

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

When is a deletion not a deletion? When it is converted

3 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

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

3 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338744

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

20 June 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0033572

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0033572

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Spinal muscular atrophy

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0033572

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

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0033572

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

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0033572

Differences in SMN1 allele frequencies among ethnic groups within North America

21 January 2018

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

21 January 2018

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International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

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New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations

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