Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations

Mutation effects predicted from sequence co-variation

(2017) Thomas A Hopf et al.   NATURE BIOTECHNOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associatedMSH2DNA mismatch repair gene variants

(2016) Hellen Houlleberghs et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The yin–yang of kinase activation and unfolding explains the peculiarity of Val600 in the activation segment of BRAF

(2016) Christina Kiel et al.   eLife

Bioinformatics analysis identifies several intrinsically disordered human E3 ubiquitin-protein ligases

(2016) Wouter Boomsma et al.   PeerJ

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

A Two-step Protein Quality Control Pathway for a Misfolded DJ-1 Variant in Fission Yeast

(2015) Søs G. Mathiassen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Combined Covalent-Electrostatic Model of Hydrogen Bonding Improves Structure Prediction with Rosetta

(2015) Matthew J. O’Meara et al.   Journal of Chemical Theory and Computation

Prophylactic colectomy: Rationale, indications, and approach

(2014) Matthew F. Kalady et al.   JOURNAL OF SURGICAL ONCOLOGY

HDAC6 Deacetylates and Ubiquitinates MSH2 to Maintain Proper Levels of MutSα

(2014) Mu Zhang et al.   MOLECULAR CELL

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations

(2014) C. Kiel et al.   Molecular Systems Biology

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Proteostasis impairment in protein-misfolding and -aggregation diseases

(2014) Mark S. Hipp et al.   TRENDS IN CELL BIOLOGY

A Chaperone-Assisted Degradation Pathway Targets Kinetochore Proteins to Ensure Genome Stability

(2014) Franziska Kriegenburg et al.   PLoS Genetics

The network of stabilizing contacts in proteins studied by coevolutionary data

(2013) Sara Lui et al.   JOURNAL OF CHEMICAL PHYSICS

Analyses of the Effects of All Ubiquitin Point Mutants on Yeast Growth Rate

(2013) Benjamin P. Roscoe et al.   JOURNAL OF MOLECULAR BIOLOGY

Proteasome inhibition rescues clinically significant unstable variants of the mismatch repair protein Msh2

(2012) T. Arlow et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular chaperones in targeting misfolded proteins for ubiquitin-dependent degradation

(2011) Franziska Kriegenburg et al.   FEBS Journal

Molecular chaperones in protein folding and proteostasis

(2011) F. Ulrich Hartl et al.   NATURE

Ubiquitin and SUMO signalling in DNA repair

(2010) Timothy M. Thomson et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Chaperone-assisted degradation: multiple paths to destruction

(2010) Nadja Kettern et al.   BIOLOGICAL CHEMISTRY

Probing DNA- and ATP-mediated Conformational Changes in the MutS Family of Mispair Recognition Proteins Using Deuterium Exchange Mass Spectrometry

(2010) Marc L. Mendillo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Role of conformational sampling in computing mutation-induced changes in protein structure and stability

(2010) Elizabeth H. Kellogg et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Learning generative models for protein fold families

(2010) Sivaraman Balakrishnan et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Biological and Chemical Approaches to Diseases of Proteostasis Deficiency

(2009) Evan T. Powers et al.   Annual Review of Biochemistry

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Converging concepts of protein folding in vitro and in vivo

(2009) F Ulrich Hartl et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Functional analysis of HNPCC-related missense mutations in MSH2

(2008) Anne Lützen et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

One step at a time: endoplasmic reticulum-associated degradation

(2008) Shruthi S. Vembar et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY