(Q40778498)

23 September 2017

Characterization of functional domains of the SMN protein in vivo (English)

1 reference

23 September 2017

Wang J

1

1 reference

PubMed ID

11572858

23 September 2017

Dreyfuss G

series ordinal

2

1 reference

PubMed ID

11572858

23 September 2017

language of work or name

English

0 references

publication date

25 September 2001

1 reference

Journal of Biological Chemistry

23 September 2017

1 reference

23 September 2017

276

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23 September 2017

48

1 reference

23 September 2017

45387-45393

1 reference

The genetic component in child mortality

23 September 2017

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

The survival motor neuron protein in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

The survival motor neuron protein interacts with the transactivator FUSE binding protein from human fetal brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

Specific sequences of the Sm and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN).

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

A cell system with targeted disruption of the SMN gene: functional conservation of the SMN protein and dependence of Gemin2 on SMN.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

Tudor domains in proteins that interact with RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

Positionally cloned human disease genes: patterns of evolutionary conservation and functional motifs

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

SMN tudor domain structure and its interaction with the Sm proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

A mouse model for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

Vesicular stomatitis virus G glycoprotein pseudotyped retroviral vectors: concentration to very high titer and efficient gene transfer into mammalian and nonmammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

The survival motor neuron protein of Schizosacharomyces pombe. Conservation of survival motor neuron interaction domains in divergent organisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

SMN oligomerization defect correlates with spinal muscular atrophy severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105059200

21 January 2018

Identifiers

DOI

10.1074/JBC.M105059200

1 reference

23 September 2017

1 reference

PubMed ID

11572858