Publications associées à Mutation non-sens

Structural mechanism of cGAS inhibition by the nucleosome

Rudolf Hovius, Beat Fierz, Andrea Ablasser, Baptiste Claude André Guey, Alexiane Clara Decout, Pauline Ambre Melenec, Simone Cavadini, Kristina Makasheva, Sélène-Véronique Glück

The DNA sensor cGAS initiates innate immune responses following microbial infection, cellular stress, and cancer1. Upon activation by double-stranded DNA, cytosolic cGAS produces 2’3’ cyclic GMP-AMP and triggers inflammatory cytokine and type I interferon ...

2020

Direct coupling analysis of epistasis in allosteric materials

Matthieu Wyart, Carolina Brito Carvalho dos Santos, Riccardo Ravasio, Barbara Bravi

In allosteric proteins, the binding of a ligand modifies function at a distant active site. Such allosteric pathways can be used as target for drug design, generating considerable interest in inferring them from sequence alignment data. Currently, differen ...

2020

Somatic Mitochondrial DNA Point Mutations Used as Biomarkers to Demonstrate Genomic Heterogeneity in Primary Prostate Cancer

Paul Refinetti, Per Olaf Ekstrom

Primary prostate tumor heterogeneity is poorly understood, leaving research efforts with challenges regarding the initiation and advancement of the disease. The growth of tumor cells is accompanied by mutations in nuclear and in mitochondrial genomes. Thus ...

HINDAWI LTD2020

Robust landscapes of ribosome dwell times and aminoacyl-tRNAs in response to nutrient stress in liver

Felix Naef, Cédric Gobet, Frédéric Bruno Martin Gachon, Benjamin Dieter Weger, Nagammal Neelagandan

Translation depends on messenger RNA (mRNA)-specific initiation, elongation, and termination rates. While translation elongation is well studied in bacteria and yeast, less is known in higher eukaryotes. Here we combined ribosome and transfer RNA (tRNA) pr ...

2020

Effect of Single-Point Mutations on Nitric Oxide Rebinding and the Thermodynamic Stability of Myoglobin

Polydefkis Diamantis

The effect of single amino acid mutations on the rebinding dynamics of nitrogen monoxide (NO) to myoglobin is investigated using reactive molecular dynamics simulations. In particular, mutations of residues surrounding the heme-active site (Leu29, His64, V ...

AMER CHEMICAL SOC2019

Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss

Bernard Schneider, Paola Andrea Solanes Vega, Sofia Carmen Suzanne Spataro

Since most dominant human mutations are single nucleotide substitutions(1,2), we explored gene editing strategies to disrupt dominant mutations efficiently and selectively without affecting wild-type alleles. However, single nucleotide discrimination can b ...

NATURE PUBLISHING GROUP2019

ZNF445 is a primary regulator of genomic imprinting

Didier Trono, Priscilla Turelli, Christian Axel Wandall Thorball, Evaristo Jose Planet Letschert, Sandra Eloise Kjeldsen, Michaël Imbeault, Andrea Coluccio

Genomic imprinting is an epigenetic process regulated by germline-derived DNA methylation, causing parental origin-specific monoallelic gene expression. Zinc finger protein 57 (ZFP57) is critical for maintenance of this epigenetic memory during post-fertil ...

2019

Gene Editing Preserves Visual Functions in a Mouse Model of Retinal Degeneration

Diego Ghezzi, Paola Vagni, Naïg Aurelia Ludmilla Chenais, Tommaso Marchetti

Inherited retinal dystrophies (IRDs) are a large and heterogeneous group of degenerative diseases caused by mutations in various genes. Given the favorable anatomical and immunological characteristics of the eye, gene therapy holds great potential for thei ...

2019

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Mutation non-sens

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

Structural mechanism of cGAS inhibition by the nucleosome

Direct coupling analysis of epistasis in allosteric materials

Somatic Mitochondrial DNA Point Mutations Used as Biomarkers to Demonstrate Genomic Heterogeneity in Primary Prostate Cancer

Robust landscapes of ribosome dwell times and aminoacyl-tRNAs in response to nutrient stress in liver

Effect of Single-Point Mutations on Nitric Oxide Rebinding and the Thermodynamic Stability of Myoglobin

Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss

ZNF445 is a primary regulator of genomic imprinting

Analysis of Inherited Optic Neuropathies

Gene Editing Preserves Visual Functions in a Mouse Model of Retinal Degeneration

Graph Chatbot

Chattez avec Graph Search

Direct coupling analysis of epistasis in allosteric materials

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

Somatic Mitochondrial DNA Point Mutations Used as Biomarkers to Demonstrate Genomic Heterogeneity in Primary Prostate Cancer

Structural mechanism of cGAS inhibition by the nucleosome

Robust landscapes of ribosome dwell times and aminoacyl-tRNAs in response to nutrient stress in liver

Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss

Analysis of Inherited Optic Neuropathies

Effect of Single-Point Mutations on Nitric Oxide Rebinding and the Thermodynamic Stability of Myoglobin

ZNF445 is a primary regulator of genomic imprinting

Gene Editing Preserves Visual Functions in a Mouse Model of Retinal Degeneration