A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q24546014

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Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy An improved definition of the RNA-binding specificity of SECIS-binding protein 2, an essential component of the selenocysteine incorporation machinery The human selenoproteome: recent insights into functions and regulation Approach to the diagnosis of congenital myopathies Synthesis and decoding of selenocysteine and human health Congenital muscular dystrophies: a brief review Eukaryotic initiation factor 4a3 is a selenium-regulated RNA-binding protein that selectively inhibits selenocysteine incorporation Identification of a signature motif for the eIF4a3-SECIS interaction Diagnostic approach to the congenital muscular dystrophies.Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors.A Reduction in Selenoprotein S Amplifies the Inflammatory Profile of Fast-Twitch Skeletal Muscle in the mdx Dystrophic Mouse.A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy Identification of nucleotides and amino acids that mediate the interaction between ribosomal protein L30 and the SECIS element Selenium. Role of the essential metalloid in health The congenital muscular dystrophies: recent advances and molecular insights.Known turnover and translation regulatory RNA-binding proteins interact with the 3' UTR of SECIS-binding protein 2.Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes.Characterization of the UGA-recoding and SECIS-binding activities of SECIS-binding protein 2 Clinical utility gene card for: Multi-minicore disease.Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon.A short motif in Drosophila SECIS Binding Protein 2 provides differential binding affinity to SECIS RNA hairpins On elongation factor eEFSec, its role and mechanism during selenium incorporation into nascent selenoproteins.

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

http://www.wikidata.org/entity/Q24546014

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2006 nî lūn-bûn

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2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2006 թվականի ապրիլին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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A single homozygous point muta ...... causes SEPN1-related myopathy

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A single homozygous point muta ...... causes SEPN1-related myopathy

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A single homozygous point muta ...... causes SEPN1-related myopathy

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A single homozygous point muta ...... causes SEPN1-related myopathy

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A single homozygous point muta ...... causes SEPN1-related myopathy

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A single homozygous point muta ...... causes SEPN1-related myopathy

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A single homozygous point muta ...... causes SEPN1-related myopathy

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A single homozygous point muta ...... causes SEPN1-related myopathy

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A single homozygous point muta ...... causes SEPN1-related myopathy

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A single homozygous point muta ...... causes SEPN1-related myopathy

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Alain Krol

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Alain Lescure

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Corine Gartioux

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Céline Ledeuil

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Delphine Desjardin

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J Andoni Urtizberea

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Nadine Pellegrini

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Nathalie Petit

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P2860

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

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

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

How selenium has altered our understanding of the genetic code

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

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

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

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

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

Characterization of mammalian selenoproteomes.

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7279892

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