(Q30486481)

English

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

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scholarly article

1 reference

Europe PubMed Central

18 August 2017

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

1 reference

Europe PubMed Central

18 August 2017

author name string

Christopher R Heier

1

1 reference

Europe PubMed Central

18 August 2017

Christine J DiDonato

2

1 reference

Europe PubMed Central

18 August 2017

publication date

15 January 2009

1 reference

Europe PubMed Central

18 August 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

18 August 2017

18

1 reference

Europe PubMed Central

18 August 2017

7

1 reference

Europe PubMed Central

18 August 2017

1310-1322

1 reference

Europe PubMed Central

18 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

GPS 2.0, a tool to predict kinase-specific phosphorylation sites in hierarchy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

SMN transcript stability: could modulation of messenger RNA degradation provide a novel therapy for spinal muscular atrophy?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

The spinal muscular atrophy gene product regulates neurite outgrowth: importance of the C terminus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Exogenous control of mammalian gene expression via modulation of translational termination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Therapeutics development for spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Readthrough of dystrophin stop codon mutations induced by aminoglycosides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Coupled prediction of protein secondary and tertiary structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

A mouse model for spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

The survival motor neuron protein in spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

The neurobiology of childhood spinal muscular atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Context effects on misreading and suppression at UAG codons in human cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Mechanisms of resistance to aminoglycosides in clinical isolates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

Skin and mucous membrane ulceration in beagle dogs following oral dosing with an experimental aminoglycoside antibiotic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

20 June 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP030

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP030

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP030

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP030

21 January 2018

Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP030

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP030

21 January 2018

Development of a gene therapy strategy for the restoration of survival motor neuron protein expression: implications for spinal muscular atrophy therapy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP030

21 January 2018

Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP030

21 January 2018

Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2655772

26 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19150990

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19150990

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Antibiotics show promise as therapy for genetic disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/19150990

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

https://pubmed.ncbi.nlm.nih.gov/19150990

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/19150990

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDP030

1 reference

Europe PubMed Central

18 August 2017

1 reference

Europe PubMed Central

18 August 2017

1 reference

Europe PubMed Central

18 August 2017

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