ArticleNature genetics2021
Comprehensive characterization of protein-protein interactions perturbed by disease mutations.
Article in Nature genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 145 papers.
What it found
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Who cites it
145 citing papers in PubMed, 240 citations in OpenAlex.
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- Stabilization of HSP70 by deubiquitinase OTUB1 attenuates sleep deprivation-induced cognitive impairment in mice.Journal of physiology and biochemistry · 2026Article
- RepurNet: A network medicine framework for systematic drug repurposing and disease vulnerability discovery.iScience · 2026Article
- Native MS and ligand observed NMR uncovers subtle SLiM binding variations that mediate HSP90-Hop PPI modulation.RSC chemical biology · 2026Article
- PAS-Domain Protein Orientation at a Polyelectrolyte Surface Revealed by Infrared Nanospectroscopy, Chiral Vibrational Spectroscopy, and Molecular Dynamics Simulations.Biomacromolecules · 2026Article
- Computational Insights into SIRT1: Elucidating Mutational Impact on SIRT1-RECQL4 Structural Dynamics.Cell biochemistry and biophysics · 2026Article
- Interpretable deep learning framework for mapping E3-substrate binding interfaces.Nature communications · 2026Article
- Dual-channel graph learning reveals similarity and complementarity in protein-protein interaction networks.PLoS computational biology · 2026Article
- Phenotypic prediction of missense variants via deep contrastive learning.Nature biomedical engineering · 2026Article
- Targeting protein protein interactions and their modulators to enable new therapeutic strategies for human diseases.NPJ systems biology and applications · 2026Review
- A multi-omics framework for survival mediation analysis of high-dimensional proteogenomic data.PLoS computational biology · 2026Article
- Neo-Cysteine Molecular Glues for Targeting Mutated SMAD4 Protein.Angewandte Chemie (International ed. in English) · 2026Article
- NetG2P: Network-based genotype-to-phenotype transformation identifies key signaling crosstalk for prognosis in pan-cancer study.BMC biology · 2026Article
- Predicting interaction-specific protein-protein interaction perturbations by missense variants with MutPred-PPI.bioRxiv : the preprint server for biology · 2026Article
- An interpretable molecular framework for predicting cancer driver missense mutations.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Learning the language of protein-protein interactions.Nature communications · 2026Article
- Phylogenomics to structure: evolutionary and clinical signals in the TP53 DNA-binding core through LOOCV-validated ensemble learning.Briefings in bioinformatics · 2026Article
- A novel miniTurbo knock-in mouse reveals a protein interaction network of USP46 in the brain.Experimental animals · 2026Article
- Protein-protein interactions shape trans-regulatory impact of genetic variation on protein expression and complex traits.Nature genetics · 2026Article
85 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors at 11 institutions in 2 countries.
Funding
Abstract
Technological and computational advances in genomics and interactomics have made it possible to identify how disease mutations perturb protein-protein interaction (PPI) networks within human cells. Here, we show that disease-associated germline variants are significantly enriched in sequences encoding PPI interfaces compared to variants identified in healthy participants from the projects 1000 Genomes and ExAC. Somatic missense mutations are also significantly enriched in PPI interfaces compared to noninterfaces in 10,861 tumor exomes. We computationally identified 470 putative oncoPPIs in a pan-cancer analysis and demonstrate that oncoPPIs are highly correlated with patient survival and drug resistance/sensitivity. We experimentally validate the network effects of 13 oncoPPIs using a systematic binary interaction assay, and also demonstrate the functional consequences of two of these on tumor cell growth. In summary, this human interactome network framework provides a powerful tool for prioritization of alleles with PPI-perturbing mutations to inform pathobiological mechanism- and genotype-based therapeutic discovery.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.