Publications related to Mutation

Modified cyclodextrins as broad-spectrum antivirals

Francesco Stellacci, Natalia Gasilova, Matteo Gasbarri, Valeria Cagno, Samuel Thomas Jones, Matej Janecek

Viral infections kill millions of people and new antivirals are needed. Nontoxic drugs that irreversibly inhibit viruses (virucidal) are postulated to be ideal. Unfortunately, all virucidal molecules described to date are cytotoxic. We recently developed n ...

AMER ASSOC ADVANCEMENT SCIENCE2020

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Jacques Fellay, Rui Yang, Jie Chen, Yu Zhang, Xavier Duval, Peng Zhang, Qian Zhang, Zhiyong Liu, Juan Li

Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19). We have found an enrichment in rare variants predicted to be loss-of-function (LOF ...

AMER ASSOC ADVANCEMENT SCIENCE2020

New insights on the structure of alpha-synuclein fibrils using cryo-electron microscopy

Henning Paul-Julius Stahlberg, Dongchun Ni, Ricardo Cesar Guerrero Ferreira

Fibrils of alpha-synuclein are significant components of cellular inclusions associated with several neuropathological disorders including Parkinson’s disease, multiple system atrophy and dementia with Lewy bodies. In recent years, technological advances i ...

2020

Directed evolution of the optoelectronic properties of synthetic nanomaterials

Ardemis Anoush Boghossian, Benjamin Paul Johanès Gabriel Lambert, Alice Judith Gillen, Shang-Jung Wu

Directed evolution is a powerful approach to tailor protein properties toward new or enhanced functions. Herein, we use directed evolution to engineer the optoelectronic properties of DNA-wrapped single-walled carbon nanotube sensors through DNA mutation. ...

2019

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

Rapid Screen for Tyrosine Kinase Inhibitor Resistance Mutations and Substrate Specificity

Sandrine Madeleine Suzanne Georgeon, Oliver Hantschel, Sina Maren Reckel

We present a rapid and high-throughput yeast and flow cytometry based method for predicting kinase inhibitor resistance mutations and determining kinase peptide substrate specificity. Despite the widespread success of targeted kinase inhibitors as cancer t ...

AMER CHEMICAL SOC2019

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

Alternative interaction sites in the influenza A virus nucleoprotein mediate viral escape from the importin-alpha 7 mediated nuclear import pathway

Jaume Bonet Martinez, Sebastian Beck

Influenza A viruses are able to adapt to restrictive conditions due to their high mutation rates. Importin-alpha 7 is a component of the nuclear import machinery required for avian-mammalian adaptation and replicative fitness in human cells. Here, we eluci ...

WILEY2019

Predicting the Occurrence of Variants in RAG1 and RAG2

Jacques Fellay, Dylan Lawless, Flavia Aurelia Shoko Hodel

While widespread genome sequencing ushers in a new era of preventive medicine, the tools for predictive genomics are still lacking. Time and resource limitations mean that human diseases remain uncharacterized because of an inability to predict clinically ...

2019

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Mutation

Modified cyclodextrins as broad-spectrum antivirals

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

New insights on the structure of alpha-synuclein fibrils using cryo-electron microscopy

Directed evolution of the optoelectronic properties of synthetic nanomaterials

Analysis of Inherited Optic Neuropathies

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

Rapid Screen for Tyrosine Kinase Inhibitor Resistance Mutations and Substrate Specificity

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

Alternative interaction sites in the influenza A virus nucleoprotein mediate viral escape from the importin-alpha 7 mediated nuclear import pathway

Predicting the Occurrence of Variants in RAG1 and RAG2

Graph Chatbot

Chat with Graph Search

Analysis of Inherited Optic Neuropathies

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

Predicting the Occurrence of Variants in RAG1 and RAG2

Modified cyclodextrins as broad-spectrum antivirals

Directed evolution of the optoelectronic properties of synthetic nanomaterials

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

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Rapid Screen for Tyrosine Kinase Inhibitor Resistance Mutations and Substrate Specificity

New insights on the structure of alpha-synuclein fibrils using cryo-electron microscopy

Alternative interaction sites in the influenza A virus nucleoprotein mediate viral escape from the importin-alpha 7 mediated nuclear import pathway