# Publications that used MAVISp data

**Peer-reviewed publications**

1. Maselli F. et al., *Computational analysis of five neurodegenerative diseases reveals shared and specific genetic loci.* **Computational and Structural Biotechnology Journal***,* 2023, 21:5395-5407, DOI:  <https://doi.org/10.1016/j.csbj.2023.10.031>
2. Papaleo E. et al., *TRAP1 S-nitrosylation as a model of population-shift mechanism to study the effects of nitric oxide on redox-sensitive oncoproteins,* **Cell Death Dis**, 2023, 14:283, DOI: [10.1038/s41419-023-05780-6](https://doi.org/10.1038/s41419-023-05780-6)
3. Scrima S et al. *ASM Variants in the Spotlight: A Structure-Based Atlas for Unraveling Pathogenic Mechanisms in Lysosomal Acid Sphingomyelinase,* **BBA-Mol Basis Disease**, 2024, in press,  DOI: [10.1016/j.bbadis.2024.167260](https://doi.org/10.1016/j.bbadis.2024.167260)
4. Tzavella K et al., *Combining evolution and protein language models for an interpretable cancer driver mutation prediction with D2Deep*. **Brief Bioinformatics**, 2024, 26: bbae664 DOI: [10.1093/bib/bbae664](https://doi.org/10.1093/bib/bbae664)
5. Sahu S. et al., *Saturation genome editing-based clinical classification of BRCA2 variants.* **Nature***,* 2025, 638:538-545 DOI:  [0.1038/s41586-024-08349-1](https://doi.org/10.1038/s41586-024-08349-1)
6. Arnaudi M and Utichi M et al. *Predicting the structure-altering mechanisms of disease variants*. **Curr Opin Struct Biol**, 2025, 91:102994. DOI: [10.1016/j.sbi.2025.102994](https://doi.org/10.1016/j.sbi.2025.102994)
7. Laquatra C et al. *Point mutations of the mitochondrial chaperone TRAP1 affect its functions and pro-neoplastic activity*.  **Cell Death Disease,** 202&#x35;**,** 16:172, DOI: [10.1038/s41419-025-07467-6](https://doi.org/10.1038/s41419-025-07467-6)
8. Utichi M, Antonescu O et al. *Decoding phospho-regulation and flanking regions in autophagy-associated short linear motifs*,  **Commun Biol,** 2025, 8:1255, DOI: [10.1038/s42003-025-08399-9](https://doi.org/10.1038/s42003-025-08399-9)
9. Krzesinska K, Degn K. et al. *Deciphering long-range effects of mutations: an integrated approach using elastic network models and protein structure networks.* **J Mol Biol***,* 2025, 437:169359  DOI: [10.1016/j.jmb.2025.169359](https://doi.org/10.1016/j.jmb.2025.169359)

**Pre-prints**

1. Arnaudi M et al. *Interpreting the effects of DNA polymerase variants at the structural level*, biorxiv,  2025, DOI: <https://doi.org/10.1101/2025.08.04.653638>
2. Degn K et al. *In-silico stability predictors: investigation of performance towards balanced experimental data,* biorxiv, 2025, DOI: <https://doi.org/10.1101/2025.03.28.645695>