A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice (Q24657021)

1

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Luciano Saieva

2

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Tessa L Carrel

3

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Thomas O Crawford

4

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Don Liu

5

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Cathleen Lutz

6

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Christine E Beattie

7

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Livio Pellizzoni

8

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Arthur H M Burghes

describes a project that uses

9

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language of work or name

English

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publication date

15 June 2009

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published in

Human Molecular Genetics

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volume

18

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issue

12

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page(s)

2215-29

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ImageQuant

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2685758/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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7 April 2017

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Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy

7 April 2017

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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

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

7 April 2017

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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

7 April 2017

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A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy.

28 September 2017

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Embryonic motor axon development in the severe SMA mouse

28 September 2017

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

28 September 2017

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

28 September 2017

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

28 September 2017

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

28 September 2017

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Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy

28 September 2017

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

28 September 2017

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28 September 2017

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28 September 2017

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The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy

28 September 2017

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Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.

28 September 2017

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28 September 2017

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

28 September 2017

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Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

28 September 2017

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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.

28 September 2017

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

28 September 2017

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

28 September 2017

1 reference

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

28 September 2017

1 reference

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

28 September 2017

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A mouse model for spinal muscular atrophy

28 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

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

28 September 2017

1 reference

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28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

Correlation between severity and SMN protein level in spinal muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

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.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

Anterior-horn cell degeneration and gross calf hypertrophy with adolescent onset. A new spinal muscular atrophy syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

The neurobiology of childhood spinal muscular atrophy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

The genetic component in child mortality

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

QNQKE targeting motif for the SMN-Gemin multiprotein complexin neurons.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

Quantitative PCR genotyping assay for the Ts65Dn mouse model of Down syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

The Relationship between SMN, the Spinal Muscular Atrophy Protein, and Nuclear Coiled Bodies in Differentiated Tissues and Cultured Cells

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685758

A comprehensive interaction map of the human survival of motor neuron (SMN) complex

28 November 2018

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12 December 2020

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

1 reference

12 December 2020

The SMN binding protein Gemin2 is not involved in motor axon outgrowth

1 reference

12 December 2020

Spinal muscular atrophy and hypertrophy of the calves

1 reference

12 December 2020

Detection of novel mutations in the SMN Tudor domain in type I SMA 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

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

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

12 December 2020

Spinal muscular atrophy: the RNP connection

1 reference

12 December 2020

Gemin8 is required for the architecture and function of the survival motor neuron complex

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDP157

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1093/HMG/DDP157

1 reference

release_4dike7ptarenpb4ytczp7jx3iu

3932502

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4dike7ptarenpb4ytczp7jx3iu

24 November 2022

mapped directly with Wikidata item

3932502

1 reference

1 reference

1 reference