The properties of human disease mutations at protein interfaces

Variant effect predictions capture some aspects of deep mutational scanning experiments

(2020) Jonas Reeb et al.   BMC BIOINFORMATICS

Insights into changes in binding affinity caused by disease mutations in protein-protein complexes

(2020) Sherlyn Jemimah et al.   COMPUTERS IN BIOLOGY AND MEDICINE

Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations

(2020) Benjamin J Livesey et al.   Molecular Systems Biology

Structural and Computational Characterization of Disease-Related Mutations Involved in Protein-Protein Interfaces

(2019) Dàmaris Navío et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Reports from the fifth edition of CAGI: The Critical Assessment of Genome Interpretation

(2019) Gaia Andreoletti et al.   HUMAN MUTATION

Structural dynamics and allostery of Rab proteins: strategies for drug discovery and design

(2019) Ammu Prasanna Kumar et al.   BRIEFINGS IN BIOINFORMATICS

OUP accepted manuscript

(2018)   BIOINFORMATICS

An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders

(2018) Siwei Chen et al.   NATURE GENETICS

Proteome-wide analysis of cysteine oxidation reveals metabolic sensitivity to redox stress

(2018) Jiska van der Reest et al.   Nature Communications

DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins

(2017) Daniele Raimondi et al.   NUCLEIC ACIDS RESEARCH

Mutations at protein-protein interfaces: Small changes over big surfaces have large impacts on human health

(2017) Harry C. Jubb et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Functional determinants of protein assembly into homomeric complexes

(2017) L. Therese Bergendahl et al.   Scientific Reports

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

Identifying Allosteric Hotspots with Dynamics: Application to Inter- and Intra-species Conservation

(2016) Declan Clarke et al.   STRUCTURE

Operon Gene Order Is Optimized for Ordered Protein Complex Assembly

(2016) Jonathan N. Wells et al.   Cell Reports

Structure-Based Analysis Reveals Cancer Missense Mutations Target Protein Interaction Interfaces

(2016) H. Billur Engin et al.   PLoS One

Structure, Dynamics, Assembly, and Evolution of Protein Complexes

(2015) Joseph A. Marsh et al.   Annual Review of Biochemistry

Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders

(2015) Nidhi Sahni et al.   CELL

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

(2015) Dominik G. Grimm et al.   HUMAN MUTATION

The Contribution of Missense Mutations in Core and Rim Residues of Protein–Protein Interfaces to Human Disease

(2015) Alessia David et al.   JOURNAL OF MOLECULAR BIOLOGY

Principles of assembly reveal a periodic table of protein complexes

(2015) S. E. Ahnert et al.   SCIENCE

Insights into Disease-Associated Mutations in the Human Proteome through Protein Structural Analysis

(2015) Mu Gao et al.   STRUCTURE

A Pan-Cancer Catalogue of Cancer Driver Protein Interaction Interfaces

(2015) Eduard Porta-Pardo et al.   PLoS Computational Biology

UniRef clusters: a comprehensive and scalable alternative for improving sequence similarity searches

(2014) B. E. Suzek et al.   BIOINFORMATICS

Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate/glutamate carriers

(2014) Chancievan Thangaratnarajah et al.   Nature Communications

Allostery in Disease and in Drug Discovery

(2013) Ruth Nussinov et al.   CELL

Protein Complexes Are under Evolutionary Selection to Assemble via Ordered Pathways

(2013) Joseph A. Marsh et al.   CELL

The Effects of Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs) on Protein–Protein Interactions

(2013) Christopher M. Yates et al.   JOURNAL OF MOLECULAR BIOLOGY

FireDB: a compendium of biological and pharmacologically relevant ligands

(2013) Paolo Maietta et al.   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Cancer Missense Mutations Alter Binding Properties of Proteins and Their Interaction Networks

(2013) Hafumi Nishi et al.   PLoS One

Characterizing Changes in the Rate of Protein-Protein Dissociation upon Interface Mutation Using Hotspot Energy and Organization

(2013) Rudi Agius et al.   PLoS Computational Biology

Three-dimensional reconstruction of protein networks provides insight into human genetic disease

(2012) Xiujuan Wang et al.   NATURE BIOTECHNOLOGY

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Overview of theCCP4 suite and current developments

(2011) Martyn D. Winn et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

Improving the prediction of disease-related variants using protein three-dimensional structure

(2011) Emidio Capriotti et al.   BMC BIOINFORMATICS

Protein-protein interaction sites are hot spots for disease-associated nonsynonymous SNPs

(2011) Alessia David et al.   HUMAN MUTATION

Cysteine residues exposed on protein surfaces are the dominant intramitochondrial thiol and may protect against oxidative damage

(2010) Raquel Requejo et al.   FEBS Journal

A Simple Definition of Structural Regions in Proteins and Its Use in Analyzing Interface Evolution

(2010) Emmanuel D. Levy   JOURNAL OF MOLECULAR BIOLOGY

Cysteine Function Governs Its Conservation and Degeneration and Restricts Its Utilization on Protein Surfaces

(2010) Stefano M. Marino et al.   JOURNAL OF MOLECULAR BIOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Transient Protein-Protein Interactions: Structural, Functional, and Network Properties

(2010) James R. Perkins et al.   STRUCTURE

Modeling Effects of Human Single Nucleotide Polymorphisms on Protein-Protein Interactions

(2009) Shaolei Teng et al.   BIOPHYSICAL JOURNAL

Edgetic perturbation models of human inherited disorders

(2009) Quan Zhong et al.   Molecular Systems Biology

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Protein-protein crystal-packing contacts

(2009) Oliviero Carugo et al.   PROTEIN SCIENCE

Assembly reflects evolution of protein complexes

(2008) Emmanuel D. Levy et al.   NATURE

Protein interactions in human genetic diseases

(2008) Benjamin Schuster-Böckler et al.   GENOME BIOLOGY