(Q36323111)

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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.

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12515823%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

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

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12515823%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

spinal muscular atrophy

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based on heuristic

inferred from title

Elliot J. Androphy

9

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16 December 2019

Michael Sendtner

10

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16 December 2019

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16 December 2019

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Umrao R Monani

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16 December 2019

Matthew T Pastore

2

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16 December 2019

Tatiana O Gavrilina

3

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16 December 2019

Sibylle Jablonka

4

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16 December 2019

Thanh T Le

5

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16 December 2019

Catia Andreassi

6

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16 December 2019

Jennifer M DiCocco

7

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16 December 2019

Christian Lorson

8

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16 December 2019

Michael Podell

11

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16 December 2019

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publication date

6 January 2003

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16 December 2019

Journal of Cell Biology

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16 December 2019

160

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16 December 2019

1

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16 December 2019

41-52

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16 December 2019

Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

Macromolecular complexes: SMN--the master assembler

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

Characterization of functional domains of the SMN protein in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

Direct interaction of the spinal muscular atrophy disease protein SMN with the small nucleolar RNA-associated protein fibrillarin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

Treatment of spinal muscular atrophy by sodium butyrate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

A functional interaction between the survival motor neuron complex and RNA polymerase II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

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=2172739

30 September 2017

Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications 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=2172739

30 September 2017

Identification of survival motor neuron as a transcriptional activator-binding protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

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=2172739

30 September 2017

Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

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=2172739

30 September 2017

A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

Spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

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=2172739

30 September 2017

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=2172739

30 September 2017

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=2172739

30 September 2017

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=2172739

30 September 2017

Correlation between severity and SMN protein level 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=2172739

30 September 2017

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=2172739

30 September 2017

Missense mutations in exon 6 of the survival motor neuron gene in patients with 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=2172739

30 September 2017

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=2172739

30 September 2017

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

A novel nuclear structure containing the survival of motor neurons protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

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=2172739

30 September 2017

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

A new stain for quantitative measurement of sprouting at neuromuscular junctions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

30 September 2017

Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

29 June 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=2172739

29 June 2018

Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

29 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=2172739

29 June 2018

The genetic component in child mortality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

29 June 2018

Ciliary neurotrophic factor prevents the degeneration of motor neurons after axotomy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

29 June 2018

Large differences in the helix propensities of alanine and glycine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172739

29 June 2018

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

1 reference

https://api.crossref.org/works/10.1083%2FJCB.200208079

21 January 2018

Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development.

1 reference

https://api.crossref.org/works/10.1083%2FJCB.200208079

21 January 2018

Persistence of junctional acetylcholine receptors following denervation

1 reference

https://api.crossref.org/works/10.1083%2FJCB.200208079

21 January 2018

Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1083%2FJCB.200208079

21 January 2018

Comparative analysis of motoneuron loss and functional deficits in PMN mice: implications for human motoneuron disease

1 reference

https://api.crossref.org/works/10.1083%2FJCB.200208079

21 January 2018

Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III

1 reference

https://api.crossref.org/works/10.1083%2FJCB.200208079

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1083%2FJCB.200208079

21 January 2018

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

https://api.crossref.org/works/10.1083%2FJCB.200208079

21 January 2018

Side chain contributions to the stability of alpha-helical structure in peptides

1 reference

https://api.crossref.org/works/10.1083%2FJCB.200208079

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1083%2FJCB.200208079

21 January 2018

Functional properties of motor units in motor neuron diseases and neuropathies

1 reference

https://api.crossref.org/works/10.1083%2FJCB.200208079

21 January 2018

Identifiers

10.1083/JCB.200208079

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12515823%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12515823%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12515823%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

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