(Q34152015)

English

Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

31 July 2017

Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene (English)

1 reference

Europe PubMed Central

31 July 2017

spinal muscular atrophy

1 reference

based on heuristic

inferred from title

muscular atrophy

1 reference

based on heuristic

inferred from title

author name string

Gyu-Hwan Park

1

1 reference

Europe PubMed Central

31 July 2017

Yuka Maeno-Hikichi

2

1 reference

Europe PubMed Central

31 July 2017

Tomoyuki Awano

3

1 reference

Europe PubMed Central

31 July 2017

Lynn T Landmesser

4

1 reference

Europe PubMed Central

31 July 2017

Umrao R Monani

5

1 reference

Europe PubMed Central

31 July 2017

language of work or name

0 references

publication date

1 September 2010

1 reference

Europe PubMed Central

31 July 2017

Journal of Neuroscience

1 reference

Europe PubMed Central

31 July 2017

30

1 reference

Europe PubMed Central

31 July 2017

36

1 reference

Europe PubMed Central

31 July 2017

12005-12019

1 reference

Europe PubMed Central

31 July 2017

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2944776/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Spinal muscular atrophy: new and emerging insights from model mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

CNS-targeted gene therapy improves survival and motor function 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=2944776

5 July 2018

RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

The schizophrenia susceptibility gene dysbindin controls synaptic homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

Specificity of sensory-motor connections encoded by Sema3e-Plxnd1 recognition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

A presynaptic homeostatic signaling system composed of the Eph receptor, ephexin, Cdc42, and CaV2.1 calcium channels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

Embryonic motor axon development in the severe SMA mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models 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=2944776

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

Interpretation of the sonic hedgehog morphogen gradient by a temporal adaptation mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons 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=2944776

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

Molecular mechanisms 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=2944776

5 July 2018

Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 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=2944776

5 July 2018

Cre reporter strains produced by targeted insertion of EYFP and ECFP into the ROSA26 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

Safety factor at the neuromuscular junction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

Maintaining the stability of neural function: a homeostatic hypothesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

ETS gene Er81 controls the formation of functional connections between group Ia sensory afferents and motor neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 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=2944776

5 July 2018

Identification of a novel family of oligodendrocyte lineage-specific basic helix-loop-helix transcription factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

Gene targeting restricted to mouse striated muscle lineage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 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=2944776

5 July 2018

Synapse-specific control of synaptic efficacy at the terminals of a single neuron

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 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=2944776

5 July 2018

On the release of transmitter at normal, myasthenia gravis and myasthenic syndrome affected human end-plates.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

5 July 2018

Systemic delivery of scAAV9 expressing SMN prolongs survival in a 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=2944776

28 October 2018

Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

28 October 2018

SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

28 October 2018

Prolongation of evoked and spontaneous synaptic currents at the neuromuscular junction after activity blockade is caused by the upregulation of fetal acetylcholine receptors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

28 October 2018

Neuron-specific enolase-cre mouse line with cre activity in specific neuronal populations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

28 October 2018

Activity-dependent presynaptic regulation of quantal size at the mammalian neuromuscular junction in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

28 October 2018

Cellular localization of three vesicular glutamate transporter mRNAs and proteins in rat spinal cord and dorsal root ganglia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

28 October 2018

Coordinate regulation of motor neuron subtype identity and pan-neuronal properties by the bHLH repressor Olig2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

28 October 2018

Targeted expression of Cre recombinase to myelinating cells of the central nervous system in transgenic mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

28 October 2018

Genetic analysis of glutamate receptors in Drosophila reveals a retrograde signal regulating presynaptic transmitter release.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2944776

28 October 2018

Structural and functional alterations of neuromuscular junctions in NCAM-deficient mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/20826664

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20826664

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20826664

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/20826664

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20826664

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modeling spinal muscular atrophy in Drosophila

1 reference

https://pubmed.ncbi.nlm.nih.gov/20826664

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vivo observations of pre- and postsynaptic changes during the transition from multiple to single innervation at developing neuromuscular junctions

1 reference

https://pubmed.ncbi.nlm.nih.gov/20826664

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alterations in synaptic strength preceding axon withdrawal

1 reference

https://pubmed.ncbi.nlm.nih.gov/20826664

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1523/JNEUROSCI.2208-10.2010

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34152015&oldid=1658998708"