Concept

Nonsense suppressor

Related publications (14)

Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome

Hunter's syndrome (mucopolysaccharidosis type II) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene. Motivated by the case of a child affected by this syndrome, we compared the intracellular fate of w ...

2020

The DEAD-box RNA helicase CshA is required for fatty acid homeostasis inStaphylococcus aureus

Bianca Marie Petrignani

Staphylococcus aureusis an opportunistic pathogen that can grow in a wide array of conditions: on abiotic surfaces, on the skin, in the nose, in planktonic or biofilm forms and can cause many type of infections. Consequently,S.aureusmust be able to adapt r ...

PUBLIC LIBRARY SCIENCE2020

Optimization of the analogue-sensitive Cdc2/Cdk1 mutant by in vivo selection eliminates physiological limitations to its use in cell cycle analysis

Viesturs Simanis

Analogue-sensitive (as) mutants of kinases are widely used to selectively inhibit a single kinase with few off-target effects. The analogue-sensitive mutant cdc2-as of fission yeast (Schizosaccharomyces pombe) is a powerful tool to study the cell cycle, bu ...

Royal Society, The2014

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with MatthewWood syndr ...

Oxford University Press2013

A computational framework for the design of optimal protein synthesis

Vassily Hatzimanikatis, Julien Racle, Jan Overney

Despite the establishment of design principles to optimize codon choice for heterologous expression vector design, the relationship between codon sequence and final protein yield remains poorly understood. In this work, we present a computational framework ...

Wiley-Blackwell2012

Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia

Daniel Constam, Marine Marie Kraus, Anne Grapin-Botton

Bicaudal C homologue 1 (Bicc1) knockout in mice causes polycystic kidney disease and pancreas development defects, including a reduction in insulin-producing β-cells and ensuing diabetes. We therefore screened 137 patients with renal abnormalities or assoc ...

2011

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

Farah Ouechtati

Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. Th ...

2011

Downregulation of eRF1 by RNA interference increases mis-acylated tRNA suppression efficiency in human cells

Horst Vogel, Horst Pick, Erwin Ilegems

The site-specific incorporation of non-natural amino acids into proteins by nonsense suppression has been widely used to investigate protein structure and function. Usually this technique exhibits low incorporation efficiencies of non-natural amino acids i ...

2004

Monitoring mis-acylated tRNA suppression efficiency in mammalian cells via EGFP fluorescence recovery

Horst Vogel, Horst Pick, Erwin Ilegems

A reporter assay was developed to detect and quantify nonsense codon suppression by chem. aminoacylated tRNAs in mammalian cells. It is based on the cellular expression of the enhanced green fluorescent protein (EGFP) as a reporter for the site-specific am ...

Oxford University Press2002

Probing ligand-receptor recognition in G protein-coupled receptors through biosynthetic incorporation of fluorescent amino acids at specific sites and measurement of distances by fluorescence energy transfer

Horst Vogel, Gerardo Turcatti

A review with 6 refs. of the authors' work in developing a biophys. technique to investigate the structure, function and dynamics of membrane receptors. A fluorescence-based approach has been developed and applied to the prototypic G protein-coupled recept ...

1998

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