Literature DB >> 31562227

Gained in translation: The power of digging deep into disease models.

Paul R Copeland1.   

Abstract

Mutations affecting the SECISBP2 protein necessary for selenocysteine incorporation are linked to human disease, but with a wide range of clinical outcomes. To gain insight into this diversity, Zhao et al. dissect the phenotypic and molecular consequences of two specific mutations in the Secisbp2 gene that partially disrupt selenoprotein synthesis. They observe surprising tissue-dependent effects, emphasizing the complexities of translational science.
© 2019 Copeland.

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Year:  2019        PMID: 31562227      PMCID: PMC6768647          DOI: 10.1074/jbc.H119.010864

Source DB:  PubMed          Journal:  J Biol Chem        ISSN: 0021-9258            Impact factor:   5.157


  9 in total

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

Authors:  P R Copeland; J E Fletcher; B A Carlson; D L Hatfield; D M Driscoll
Journal:  EMBO J       Date:  2000-01-17       Impact factor: 11.598

2.  The evolving versatility of selenium in biology.

Authors:  Regina Brigelius-Flohé
Journal:  Antioxid Redox Signal       Date:  2015-10-01       Impact factor: 8.401

3.  Translational redefinition of UGA codons is regulated by selenium availability.

Authors:  Michael T Howard; Bradley A Carlson; Christine B Anderson; Dolph L Hatfield
Journal:  J Biol Chem       Date:  2013-05-21       Impact factor: 5.157

Review 4.  Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions.

Authors:  Noelia Fradejas-Villar
Journal:  Free Radic Biol Med       Date:  2018-04-27       Impact factor: 7.376

5.  Nucleotide sequence and expression of the selenocysteine-containing polypeptide of formate dehydrogenase (formate-hydrogen-lyase-linked) from Escherichia coli.

Authors:  F Zinoni; A Birkmann; T C Stadtman; A Böck
Journal:  Proc Natl Acad Sci U S A       Date:  1986-07       Impact factor: 11.205

6.  Ribosome profiling of selenoproteins in vivo reveals consequences of pathogenic Secisbp2 missense mutations.

Authors:  Wenchao Zhao; Simon Bohleber; Henrik Schmidt; Sandra Seeher; Michael T Howard; Doreen Braun; Simone Arndt; Uschi Reuter; Hagen Wende; Carmen Birchmeier; Noelia Fradejas-Villar; Ulrich Schweizer
Journal:  J Biol Chem       Date:  2019-07-26       Impact factor: 5.157

7.  Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.

Authors:  Alexandra M Dumitrescu; Xiao-Hui Liao; Mohamed S Y Abdullah; Joaquin Lado-Abeal; Fathia Abdul Majed; Lars C Moeller; Gerard Boran; Lutz Schomburg; Roy E Weiss; Samuel Refetoff
Journal:  Nat Genet       Date:  2005-10-16       Impact factor: 38.330

8.  A novel protein domain induces high affinity selenocysteine insertion sequence binding and elongation factor recruitment.

Authors:  Jesse Donovan; Kelvin Caban; Ruchira Ranaweera; Jonathan N Gonzalez-Flores; Paul R Copeland
Journal:  J Biol Chem       Date:  2008-10-23       Impact factor: 5.157

9.  Secisbp2 is essential for embryonic development and enhances selenoprotein expression.

Authors:  Sandra Seeher; Tarik Atassi; Yassin Mahdi; Bradley A Carlson; Doreen Braun; Eva K Wirth; Marc O Klein; Nathalie Reix; Angela C Miniard; Lutz Schomburg; Dolph L Hatfield; Donna M Driscoll; Ulrich Schweizer
Journal:  Antioxid Redox Signal       Date:  2014-02-04       Impact factor: 8.401

  9 in total

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