Structural and physico-chemical effects of disease and non-disease nsSNPs on proteins.

[1]  Philip M. Kim,et al.  Combining Structural Modeling with Ensemble Machine Learning to Accurately Predict Protein Fold Stability and Binding Affinity Effects upon Mutation , 2014, PloS one.

[2]  Jesse K. Placone,et al.  Strong dimerization of wild-type ErbB2/Neu transmembrane domain and the oncogenic Val664Glu mutant in mammalian plasma membranes. , 2014, Biochimica et biophysica acta.

[3]  Emil Alexov,et al.  Advances in Human Biology: Combining Genetics and Molecular Biophysics to Pave the Way for Personalized Diagnostics and Medicine , 2014 .

[4]  A. Pasquo,et al.  Structural basis of the transactivation deficiency of the human PPARγ F360L mutant associated with familial partial lipodystrophy. , 2014, Acta crystallographica. Section D, Biological crystallography.

[5]  Tugba G. Kucukkal,et al.  Computational and Experimental Approaches to Reveal the Effects of Single Nucleotide Polymorphisms with Respect to Disease Diagnostics , 2014, International journal of molecular sciences.

[6]  G. Müller-Newen,et al.  Consequences of the disease-related L78R mutation for dimerization and activity of STAT3 , 2014, Journal of Cell Science.

[7]  V. Hilser,et al.  The ensemble nature of allostery , 2014, Nature.

[8]  Ambuj Kumar,et al.  Use of Long Term Molecular Dynamics Simulation in Predicting Cancer Associated SNPs , 2014, PLoS Comput. Biol..

[9]  S. Sunyaev,et al.  Clinically Relevant Variants – Identifying, Collecting, Interpreting, and Disseminating: The 2013 Annual Scientific Meeting of the Human Genome Variation Society , 2014, Human mutation.

[10]  Emil Alexov,et al.  A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. , 2014, Human molecular genetics.

[11]  Ye Mei,et al.  The F130L mutation in streptavidin reduces its binding affinity to biotin through electronic polarization effect , 2013, J. Comput. Chem..

[12]  Deepti Chaturvedi,et al.  Methionine Mutations of Outer Membrane Protein X Influence Structural Stability and Beta-Barrel Unfolding , 2013, PloS one.

[13]  Julie C. Mitchell,et al.  Community‐wide evaluation of methods for predicting the effect of mutations on protein–protein interactions , 2013, Proteins.

[14]  M. Sternberg,et al.  The effects of non-synonymous single nucleotide polymorphisms (nsSNPs) on protein-protein interactions. , 2013, Journal of molecular biology.

[15]  Shannon K. Stefl,et al.  Molecular mechanisms of disease-causing missense mutations. , 2013, Journal of molecular biology.

[16]  R. Purohit,et al.  Molecular Dynamic Simulation Reveals Damaging Impact of RAC1 F28L Mutation in the Switch I Region , 2013, PloS one.

[17]  Zhe Zhang,et al.  A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. , 2013, Human molecular genetics.

[18]  R. Truant,et al.  Polyglutamine domain flexibility mediates the proximity between flanking sequences in huntingtin , 2013, Proceedings of the National Academy of Sciences.

[19]  Roland L. Dunbrack,et al.  The Role of Balanced Training and Testing Data Sets for Binary Classifiers in Bioinformatics , 2013, PloS one.

[20]  Huiqing Cao,et al.  Mutation p.S335X in GATA4 reduces its DNA binding affinity and enhances cell apoptosis associated with ventricular septal defect. , 2013, Current molecular medicine.

[21]  Benjamin A. Shoemaker,et al.  Cancer Missense Mutations Alter Binding Properties of Proteins and Their Interaction Networks , 2013, PloS one.

[22]  Stefan Knapp,et al.  Effect of Single Amino Acid Substitution Observed in Cancer on Pim-1 Kinase Thermodynamic Stability and Structure , 2013, PloS one.

[23]  A Keith Dunker,et al.  Alternative splicing of intrinsically disordered regions and rewiring of protein interactions. , 2013, Current opinion in structural biology.

[24]  R. Nussinov,et al.  Allostery in Disease and in Drug Discovery , 2013, Cell.

[25]  Phayvanh P Sjogren,et al.  Altered protein conformation and lower stability of the dystrophic transforming growth factor beta-induced protein mutants , 2013, Molecular vision.

[26]  P. Kastritis,et al.  On the binding affinity of macromolecular interactions: daring to ask why proteins interact , 2013, Journal of The Royal Society Interface.

[27]  Zhe Zhang,et al.  Enhancing Human Spermine Synthase Activity by Engineered Mutations , 2013, PLoS Comput. Biol..

[28]  Juan Fernández-Recio,et al.  SKEMPI: a Structural Kinetic and Energetic database of Mutant Protein Interactions and its use in empirical models , 2012, Bioinform..

[29]  Emil Alexov,et al.  An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. , 2012, Human molecular genetics.

[30]  Jesse K. Placone,et al.  Direct Assessment of the Effect of the Gly380Arg Achondroplasia Mutation on FGFR3 Dimerization Using Quantitative Imaging FRET , 2012, PloS one.

[31]  Yibing Shan,et al.  Crystal structures of the Jak2 pseudokinase domain and the pathogenic mutant V617F , 2012, Nature Structural &Molecular Biology.

[32]  Lin Wang,et al.  Analyzing Effects of Naturally Occurring Missense Mutations , 2012, Comput. Math. Methods Medicine.

[33]  C. Doss,et al.  Investigating the Structural Impacts of I64T and P311S Mutations in APE1-DNA Complex: A Molecular Dynamics Approach , 2012, PloS one.

[34]  Y. Liu,et al.  Conformational dynamics inside amino-terminal disease hotspot of ryanodine receptor. , 2012, Structure.

[35]  Gideon Schreiber,et al.  Protein-binding dynamics imaged in a living cell , 2012, Proceedings of the National Academy of Sciences.

[36]  Yang Gao,et al.  Predicting folding free energy changes upon single point mutations , 2012, Bioinform..

[37]  B. Collins,et al.  Applications of isothermal titration calorimetry in pure and applied research—survey of the literature from 2010 , 2012, Journal of molecular recognition : JMR.

[38]  Evan E. Bolton,et al.  Database resources of the National Center for Biotechnology Information , 2011, Nucleic acids research.

[39]  Oliver F. Lange,et al.  Solution structure of a minor and transiently formed state of a T4 lysozyme mutant , 2011, Nature.

[40]  Ian R Kleckner,et al.  An introduction to NMR-based approaches for measuring protein dynamics. , 2011, Biochimica et biophysica acta.

[41]  Emil Alexov,et al.  A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics , 2011, Proteins.

[42]  Zhe Zhang,et al.  In Silico and In Vitro Investigations of the Mutability of Disease-Causing Missense Mutation Sites in Spermine Synthase , 2011, PloS one.

[43]  Zhe Zhang,et al.  On the role of electrostatics in protein–protein interactions , 2011, Physical biology.

[44]  Giovanni Chillemi,et al.  ADP/ATP mitochondrial carrier MD simulations to shed light on the structural-dynamical events that, after an additional mutation, restore the function in a pathological single mutant. , 2010, Journal of structural biology.

[45]  Gideon Schreiber,et al.  Protein binding specificity versus promiscuity. , 2010, Current opinion in structural biology.

[46]  Jun Li,et al.  Solution Structure and Dynamics of the I214V Mutant of the Rabbit Prion Protein , 2010, PloS one.

[47]  Zhe Zhang,et al.  Computational analysis of missense mutations causing Snyder‐Robinson syndrome , 2010, Human mutation.

[48]  Ron O. Dror,et al.  Exploring atomic resolution physiology on a femtosecond to millisecond timescale using molecular dynamics simulations , 2010, The Journal of general physiology.

[49]  Sheena E Radford,et al.  An expanding arsenal of experimental methods yields an explosion of insights into protein folding mechanisms , 2009, Nature Structural &Molecular Biology.

[50]  Ruth Nussinov,et al.  Energetic determinants of protein binding specificity: Insights into protein interaction networks , 2009, Proteomics.

[51]  Emil Alexov,et al.  Modeling effects of human single nucleotide polymorphisms on protein-protein interactions. , 2009, Biophysical journal.

[52]  A. Bonvin,et al.  Impaired peroxisome proliferator-activated receptor gamma function through mutation of a conserved salt bridge (R425C) in familial partial lipodystrophy. , 2007, Molecular endocrinology.

[53]  Emidio Capriotti,et al.  Bioinformatics Original Paper Predicting the Insurgence of Human Genetic Diseases Associated to Single Point Protein Mutations with Support Vector Machines and Evolutionary Information , 2022 .

[54]  Gregory D. Schuler,et al.  Database resources of the National Center for Biotechnology Information: update , 2004, Nucleic acids research.

[55]  C. Stratakis,et al.  A case of severe hyperaldosteronism caused by a de novo mutation affecting a critical salt bridge Kir3.4 residue. , 2015, The Journal of clinical endocrinology and metabolism.

[56]  Benjamin A. Shoemaker,et al.  Intrinsic protein disorder in human pathways. , 2012, Molecular bioSystems.

[57]  Francesco Saverio Pavone,et al.  Optical methods in the study of protein-protein interactions. , 2010, Advances in experimental medicine and biology.

[58]  B. L. de Groot,et al.  Predicting free energy changes using structural ensembles , 2009, Nature Methods.

[59]  A. Pohorille,et al.  Free energy calculations : theory and applications in chemistry and biology , 2007 .