Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation. (Q30569780)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463453%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation (English)

1 reference

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6 March 2020

main subject

neuromuscular junction

1 reference

1 reference

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6 March 2020

1 reference

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6 March 2020

Shingo Kariya

1 reference

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6 March 2020

Teresa Obis

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6 March 2020

Fusako Sera

1 reference

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6 March 2020

Shinichi Iwata

1 reference

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6 March 2020

Shunichi Homma

1 reference

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6 March 2020

Umrao R Monani

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6 March 2020

language of work or name

English

0 references

publication date

27 January 2014

1 reference

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Journal of Clinical Investigation

6 March 2020

published in

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6 March 2020

volume

124

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6 March 2020

issue

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6 March 2020

page(s)

785-800

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describes a project that uses

6 March 2020

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3904626/fullTextXML

inferred from PubMed Central ID database lookup

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

20 June 2018

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

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

20 June 2018

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Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons

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Congenital heart disease is a feature of severe infantile spinal muscular atrophy

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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

20 June 2018

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20 June 2018

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

20 June 2018

1 reference

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

20 June 2018

1 reference

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904626

The survival motor neuron protein in 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=3904626

Correlation between severity and SMN protein level in 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=3904626

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

20 June 2018

1 reference

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Cardiotoxin 1 from cobra (Naja naja atra) venom causes necrosis of skeletal muscle in vivo

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904626

Identification and characterization of a spinal muscular atrophy-determining gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904626

A single protocol to detect transcripts of various types and expression levels in neural tissue and cultured cells: in situ hybridization using digoxigenin-labelled cRNA probes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904626

Defects in neuromuscular junction remodelling in the Smn(2B/-) mouse model of 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=3904626

Synaptic defects in type I spinal muscular atrophy in human development

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904626

A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904626

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904626

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904626

Emerging treatment options for spinal muscular atrophy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904626

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904626

A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904626

Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904626

Motor unit number estimation in infants and children with spinal muscular atrophy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904626

Pole test is a useful method for evaluating the mouse movement disorder caused by striatal dopamine depletion

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904626

Transient spinal ischemia in the rat: characterization of behavioral and histopathological consequences as a function of the duration of aortic occlusion

26 November 2018

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

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

1 reference

12 December 2020

On the possible role of muscle in the pathogenesis of spinal muscular atrophy

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI72017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463453%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463453%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

PubMed publication ID

24463453

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463453%20AND%20SRC:MED&resulttype=core&format=json