A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy (Q34015865)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19067361%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy (English)

1 reference

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18 January 2020

1 reference

6

1 reference

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18 January 2020

Pascale Guicheney

7

1 reference

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18 January 2020

Kevin M. Flanigan

9

1 reference

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18 January 2020

author name string

Baijayanta Maiti

1

1 reference

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18 January 2020

Sandrine Arbogast

2

1 reference

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18 January 2020

Valérie Allamand

3

1 reference

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18 January 2020

Mark W Moyle

4

1 reference

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18 January 2020

Christine B Anderson

5

1 reference

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18 January 2020

Ana Ferreiro

8

1 reference

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18 January 2020

Michael T Howard

10

1 reference

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18 January 2020

publication date

1 March 2009

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18 January 2020

1 reference

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18 January 2020

volume

30

1 reference

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18 January 2020

issue

3

1 reference

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18 January 2020

page(s)

411-416

1 reference

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Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function

18 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

A recoding element that stimulates decoding of UGA codons by Sec tRNA[Ser]Sec

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

The nonsense-mediated decay RNA surveillance pathway

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

Endonucleolytic cleavage of eukaryotic mRNAs with stalls in translation elongation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

Mutations in SECISBP2 result in abnormal thyroid hormone metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

DINAMelt web server for nucleic acid melting prediction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

Efficiency of mammalian selenocysteine incorporation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

Mechanism and regulation of selenoprotein synthesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

How selenium has altered our understanding of the genetic code

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

A dual-luciferase reporter system for studying recoding signals

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

Spatial and temporal expression patterns of selenoprotein genes during embryogenesis in zebrafish.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909032

Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19067361

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19067361

12 December 2020

inferred from PubMed ID database lookup

Recognition of UGA as a selenocysteine codon in Type I deiodinase requires sequences in the 3′ untranslated region

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19067361

12 December 2020

inferred from PubMed ID database lookup

Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.20879

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.20879

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19067361%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19067361%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

19067361

1 reference