A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy (Q24546014)

8

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Valérie Allamand

1

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Pascale Guicheney

12

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author name string

Alain Lescure

3

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Céline Ledeuil

4

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Delphine Desjardin

5

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Nathalie Petit

6

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Corine Gartioux

7

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Alain Krol

9

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Nadine Pellegrini

10

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J Andoni Urtizberea

Characterization of the SECIS binding protein 2 complex required for the co-translational insertion of selenocysteine in mammals

11

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language of work or name

English

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publication date

April 2006

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published in

EMBO Reports

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volume

7

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issue

4

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page(s)

450-4

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Mammalian Staufen1 recruits Upf1 to specific mRNA 3'UTRs so as to elicit mRNA decay

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Reconsidering the evolution of eukaryotic selenoproteins: a novel nonmammalian family with scattered phylogenetic distribution

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

The SBP2 and 15.5 kD/Snu13p proteins share the same RNA binding domain: identification of SBP2 amino acids important to SECIS RNA binding

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

How selenium has altered our understanding of the genetic code

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

A novel RNA binding protein, SBP2, is required for the translation of mammalian selenoprotein mRNAs

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

A novel RNA structural motif in the selenocysteine insertion element of eukaryotic selenoprotein mRNAs

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Characterization of mammalian selenoproteomes.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

The selenocysteine incorporation machinery: interactions between the SECIS RNA and the SECIS-binding protein SBP2

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Finding needles in a haystack. In silico identification of eukaryotic selenoprotein genes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

An essential non-Watson-Crick base pair motif in 3'UTR to mediate selenoprotein translation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

SEPN1: associated with congenital fiber-type disproportion and insulin resistance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Understanding the importance of selenium and selenoproteins in muscle function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Selenocysteine in proteins-properties and biotechnological use.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Evolutionarily different RNA motifs and RNA-protein complexes to achieve selenoprotein synthesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Protein factors mediating selenoprotein synthesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Structure-expression relationships of the 15-kDa selenoprotein gene. Possible role of the protein in cancer etiology.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Structural analysis of new local features in SECIS RNA hairpins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

An RNA-binding protein recognizes a mammalian selenocysteine insertion sequence element required for cotranslational incorporation of selenocysteine

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

A splicing-dependent regulatory mechanism that detects translation signals

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

Rigid spine syndrome: a muscle syndrome in search of a name.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456920

A novel X-linked form of congenital fiber-type disproportion

27 September 2017

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EMBOR.7400648

Alternatively spliced TCR mRNA induced by disruption of reading frame.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EMBOR.7400648

Coupled tRNA(Sec)-dependent assembly of the selenocysteine decoding apparatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EMBOR.7400648

Purification, Redox Sensitivity, and RNA Binding Properties of SECIS-binding Protein 2, a Protein Involved in Selenoprotein Biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EMBOR.7400648

Distribution and functional consequences of nucleotide polymorphisms in the 3'-untranslated region of the human Sep15 gene

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16498447