ArticleFrontiers in molecular biosciences2021
Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes.
Article in Frontiers in molecular biosciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 28 citations in OpenAlex.
- Protein entanglement misfolding influences whether proteins undergo proteasomal degradation or persist in near-native misfolded states.Nature communications · 2026Article
- Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids.American journal of human genetics · 2025Article
- Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges.Human genetics · 2025Article
- Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.Human mutation · 2025Article
- Using AI-predicted protein structures as a reference to predict loss-of-function activity in tumor suppressor breast cancer genes.Computational and structural biotechnology journal · 2024Article
- High-throughput assays to assess variant effects on disease.Disease models & mechanisms · 2024Article
- Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus onFrontiers in genetics · 2024Article
- Editorial: Computational and experimental protein variant interpretation in the era of precision medicine.Frontiers in molecular biosciences · 2024Article
- Correspondence between functional scores from deep mutational scans and predicted effects on protein stability.Protein science : a publication of the Protein Society · 2023Article
- Mendelian inheritance revisited: dominance and recessiveness in medical genetics.Nature reviews. Genetics · 2023Review
- Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.Frontiers in genetics · 2023Article
- A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria.Scientific reports · 2022Article
- Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure.Nature communications · 2022Article
- Predicting protein stability changes upon single-point mutation: a thorough comparison of the available tools on a new dataset.Briefings in bioinformatics · 2022Article
- De novo missense variants in FBXO11 alter its protein expression and subcellular localization.Human molecular genetics · 2022Article
- A comprehensive in silico exploration of the impacts of missense variants on two different conformations of human pirin protein.Bulletin of the National Research Centre · 2022Article
- Challenges in predicting stabilizing variations: An exploration.Frontiers in molecular biosciences · 2022Article
- The evolution of the HIV-1 protease folding stability.Virus evolution · 2022Article
- Molecular Dynamics Simulations in Designing DARPins as Phosphorylation-Specific Protein Binders of ERK2.Molecules (Basel, Switzerland) · 2021Article
- A Deep-Learning Sequence-Based Method to Predict Protein Stability Changes Upon Genetic Variations.Genes · 2021Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Missense variants are among the most studied genome modifications as disease biomarkers. It has been shown that the "perturbation" of the protein stability upon a missense variant (in terms of absolute ΔΔG value, i.e., |ΔΔG|) has a significant, but not predictive, correlation with the pathogenicity of that variant. However, here we show that this correlation becomes significantly amplified in haploinsufficient genes. Moreover, the enrichment of pathogenic variants increases at the increasing protein stability perturbation value. These findings suggest that protein stability perturbation might be considered as a potential cofactor in diseases associated with haploinsufficient genes reporting missense variants.
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