SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins. (Q35641208)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10500148%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10500148%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

main subject

spinal muscular atrophy

1 reference

1 reference

1

1 reference

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31 October 2019

author name string

B Charroux

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10500148%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

G Dreyfuss

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10500148%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

language of work or name

English

0 references

publication date

1 September 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10500148%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

31 October 2019

published in

1 reference

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31 October 2019

volume

96

1 reference

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31 October 2019

issue

20

1 reference

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31 October 2019

page(s)

11167-11172

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10500148%20AND%20SRC:MED&resulttype=core&format=json

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

31 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

Ribonucleoprotein assembly: clues from spinal muscular atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

The survival motor neuron protein in spinal muscular atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

Correlation between severity and SMN protein level in spinal muscular atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

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?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

A novel nuclear structure containing the survival of motor neurons protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

The snRNP core assembly pathway: identification of stable core protein heteromeric complexes and an snRNP subcore particle in vitro

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

Identification and characterization of a spinal muscular atrophy-determining gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

A nuclear localization domain in the hnRNP A1 protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

Monoclonal antibodies to nucleic acid-containing cellular constituents: probes for molecular biology and autoimmune disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

Immunopurification of heterogeneous nuclear ribonucleoprotein particles reveals an assortment of RNA-binding proteins.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18005

Structural aspects of GroEL function

12 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.96.20.11167

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.96.20.11167

SMN oligomerization defect correlates with spinal muscular atrophy severity

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10500148

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Differential SMN2 expression associated with SMA severity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10500148

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Polishing the cutting edge of gems

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10500148

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.96.20.11167

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10500148%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10500148%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

PubMed publication ID

10500148

1 reference