Pier Luigi Martelli
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Explore the profile of Pier Luigi Martelli including associated specialties, affiliations and a list of published articles.
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131
Citations
3201
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Recent Articles
1.
Jain S, Trinidad M, Nguyen T, Jones K, Neto S, Ge F, et al.
Hum Genet
. 2025 Mar;
PMID: 40055237
Continued advances in variant effect prediction are necessary to demonstrate the ability of machine learning methods to accurately determine the clinical impact of variants of unknown significance (VUS). Towards this...
2.
Bovo S, Ribani A, Fanelli F, Galimberti G, Martelli P, Trevisi P, et al.
Genet Sel Evol
. 2025 Mar;
57(1):11.
PMID: 40050712
Background: Metabolomics opens novel avenues to study the basic biological mechanisms underlying complex traits, starting from characterization of metabolites. Metabolites and their levels in a biofluid represent simple molecular phenotypes...
3.
Turina P, Petrosino M, Enriquez Sandoval C, Novak L, Pasquo A, Alexov E, et al.
Hum Genet
. 2025 Feb;
PMID: 39976676
New thermodynamic and functional studies have been recently conducted to evaluate the impact of amino acid substitutions on the Mitogen Activated Protein Kinases 1 and 3 (MAPK1/3). The Critical Assessment...
4.
Chen Y, Lee K, Woo J, Kim D, Keum C, Babbi G, et al.
Hum Genet
. 2025 Feb;
PMID: 39934475
Critical evaluation of computational tools for predicting variant effects is important considering their increased use in disease diagnosis and driving molecular discoveries. In the sixth edition of the Critical Assessment...
5.
Manfredi M, Vazzana G, Savojardo C, Martelli P, Casadio R
Comput Struct Biotechnol J
. 2025 Feb;
27:461-466.
PMID: 39916697
AlphaFold2 predicts protein structures from structural and functional knowledge. Alternatively, ESMFold does the same adopting protein language models. Here, we map available Pfam domains on pairs of models of the...
6.
Savojardo C, Manfredi M, Martelli P, Casadio R
Bioinformatics
. 2025 Jan;
41(1).
PMID: 39799516
Motivation: The knowledge of protein stability upon residue variation is an important step for functional protein design and for understanding how protein variants can promote disease onset. Computational methods are...
7.
Aspromonte M, Del Conte A, Zhu S, Tan W, Shen Y, Zhang Y, et al.
Hum Genet
. 2025 Jan;
PMID: 39786577
The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context...
8.
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges
Turina P, Dal Cortivo G, Enriquez Sandoval C, Alexov E, Ascher D, Babbi G, et al.
Hum Genet
. 2024 Dec;
PMID: 39714488
Recent thermodynamic and functional studies have been conducted to evaluate the impact of amino acid substitutions on Calmodulin (CaM). The Critical Assessment of Genome Interpretation (CAGI) data provider at University...
9.
Vazzana G, Savojardo C, Martelli P, Casadio R
Molecules
. 2024 Oct;
29(19).
PMID: 39407545
In order to shed light on the usage of protein language model-based alignment procedures, we attempted the classification of Glutathione S-transferases (GST; EC 2.5.1.18) and compared our results with the...
10.
Manfredi M, Savojardo C, Martelli P, Casadio R
J Mol Biol
. 2024 Sep;
436(17):168494.
PMID: 39237207
Knowledge of the solvent accessibility of residues in a protein is essential for different applications, including the identification of interacting surfaces in protein-protein interactions and the characterization of variations. We...