Pubblicazioni

Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges

2025 - HUMAN GENETICS

Turina, P.; Petrosino, M.; Enriquez Sandoval, C. A.; Novak, L.; Pasquo, A.; Alexov, E.; Alladin, M. A.; Ascher, D. B.; Babbi, G.; Bakolitsa, C.; Casadio, R.; Cheng, J.; Fariselli, P.; Folkman, L.; Kamandula, A.; Katsonis, P.; Li, M.; Li, D.; Lichtarge, O.; Mahmud, S.; Martelli, P. L.; Pal, D.; Panday, S. K.; Pires, D. E. V.; Portelli, S.; Pucci, F.; Rodrigues, C. H. M.; Rooman, M.; Savojardo, C.; Schwersensky, M.; Shen, Y.; Strokach, A. V.; Sun, Y.; Woo, J.; Radivojac, P.; Brenner, S. E.; Chiaraluce, R.; Consalvi, V.; Capriotti, E.

Critical assessment of genome interpretation consortium. CAGI, the critical assessment of genome interpretation, establishes progress and pprospects for computational genetic variant interpretation methods.

2024 - GENOME BIOLOGY

Jain, Shantanu; Bakolitsa, Constantina; E Brenner, Steven; Radivojac, Predrag; Moult, John; Repo, Susanna; A Hoskins, Roger; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; K Kollipara, Naveen; Ly, Melissa; J Neumann, Andrew; R Pal, Lipika; Odell, Eric; Pandey, Gaurav; C Peters-Petrulewicz, Robin; Srinivasan, Rajgopal; F Yee, Stephen; Jyothsna Yeleswarapu, Sri; Zuhl, Maya; Adebali, Ogun; Patra, Ayoti; A Beer, Michael; Hosur, Raghavendra; Peng, Jian; M Bernard, Brady; Berry, Michael; Dong, Shengcheng; P Boyle, Alan; Adhikari, Aashish; Chen, Jingqi; Hu, Zhiqiang; Wang, Robert; Wang, Yaqiong; Miller, Maximilian; Wang, Yanran; Bromberg, Yana; Turina, Paola; Capriotti, Emidio; J Han, James; Ozturk, Kivilcim; Carter, Hannah; Babbi, Giulia; Bovo, Samuele; Di Lena, Pietro; Luigi Martelli, Pier; Savojardo, Castrense; Casadio, Rita; S Cline, Melissa; De Baets, Greet; Bonache, Sandra; DÃez, Orland; GutiÃ©rrez-EnrÃquez, Sara; FernÃ¡ndez, Alejandro; Montalban, Gemma; Ootes, Lars; Ãzkan, Selen; Padilla, NatÃ lia; Riera, Casandra; De la Cruz, Xavier; Diekhans, Mark; J Huwe, Peter; Wei, Qiong; Xu, Qifang; L Dunbrack, Roland; Gotea, Valer; Elnitski, Laura; Margolin, Gennady; Fariselli, Piero; V Kulakovskiy, Ivan; J Makeev, Vsevolod; D Penzar, Dmitry; E Vorontsov, Ilya; V Favorov, Alexander; R Forman, Julia; Hasenahuer, Marcia; S Fornasari, Maria; Parisi, Gustavo; Avsec, Ziga; H Ãelik, Muhammed; Yen Duong Nguyen, Thi; Gagneur, Julien; Shi, Fang-Yuan; D Edwards, Matthew; Guo, Yuchun; Tian, Kevin; Zeng, Haoyang; K Gifford, David; GÃ¶ke, Jonathan; Zaucha, Jan; Gough, Julian; S Ritchie, Graham R; Frankish, Adam; M Mudge, Jonathan; Harrow, Jennifer; L Young, Erin; Yu, Yao; D Huff, Chad; Murakami, Katsuhiko; Nagai, Yoko; Imanishi, Tadashi; J Mungall, Christopher; B Jacobsen, Julius O; Kim, Dongsup; Jeong, Chan-Seok; T Jones, David; Jun Li, Mulin; Beleva Guthrie, Violeta; Bhattacharya, Rohit; Chen, Yun-Ching; Douville, Christopher; Fan, Jean; Kim, Dewey; Masica, David; Niknafs, Noushin; Sengupta, Sohini; Tokheim, Collin; N Turner, Tychele; Ting Grace Yeo, Hui; Karchin, Rachel; Shin, Sunyoung; Welch, Rene; Keles, Sunduz; Li, Yue; Kellis, Manolis; Corbi-Verge, Carles; V Strokach, Alexey; M Kim, Philip; E Klein, Teri; Mohan, Rahul; A Sinnott-Armstrong, Nicholas; Wainberg, Michael; Kundaje, Anshul; Gonzaludo, Nina; Y Mak, Angel C; Chhibber, Aparna; K Lam, Hugo Y; Dahary, Dvir; Fishilevich, Simon; Lancet, Doron; Lee, Insuk; Bachman, Benjamin; Katsonis, Panagiotis; C Lua, Rhonald; J Wilson, Stephen; Lichtarge, Olivier; R Bhat, Rajendra; Sundaram, Laksshman; Viswanath, Vivek; Bellazzi, Riccardo; Nicora, Giovanna; Rizzo, Ettore; Limongelli, Ivan; M Mezlini, Aziz; Chang, Ray; Kim, Serra; Lai, Carmen; O'Connor, Robert; Topper, Scott; van den Akker, Jeroen; Y Zhou, Alicia; D Zimmer, Anjali; Mishne, Gilad; R Bergquist, Timothy; R Breese, Marcus; F Guerrero, Rafael; Jiang, Yuxiang; Kiga, Nikki; Li, Biao; Mort, Matthew; A Pagel, Kymberleigh; Pejaver, Vikas; H Stamboulian, Moses; Thusberg, Janita; D Mooney, Sean; Teerakulkittipong, Nuttinee; Cao, Chen; Kundu, Kunal; Yin, Yizhou; Yu, Chen-Hsin; Kleyman, Michael; Lin, Chiao-Feng; Stackpole, Mary; M Mount, Stephen; Eraslan, GÃ¶kcen; S Mueller, Nikola; Naito, Tatsuhiko; R Rao, Aliz; R Azaria, Johnathan; Brodie, Aharon; Ofran, Yanay; Garg, Aditi; Pal, Debnath; Hawkins-Hooker, Alex; Kenlay, Henry; Reid, John; J Mucaki, Eliseos; K Rogan, Peter; M Schwarz, Jana; B Searls, David; Rie Lee, Gyu; Seok, Chaok; KrÃ¤mer, Andreas; Shah, Sohela; V Huang, Chenglai; F Kirsch, Jack; Shatsky, Maxim; Cao, Yue; Chen, Haoran; Karimi, Mostafa; Moronfoye, Oluwaseyi; Sun, Yuanfei; Shen, Yang; Shigeta, Ron; T Ford, Colby; Nodzak, Conor; Uppal, Aneeta; Shi, Xinghua; Joseph, Thomas; Kotte, Sujatha; Rana, Sadhna; Rao, Aditya; G Saipradeep, V; Sivadasan, Naveen; Sunderam, Uma; Stanke, Mario; Su, Andrew; Adzhubey, Ivan; M Jordan, Daniel; Sunyaev, Shamil; Rousseau, Fr

The elongation factor 1-alpha as storage reserve and environmental sensor in Nicotiana tabacum L. seeds

2024 - PLANT SCIENCE

Cocco, E.; Farci, D.; Guadalupi, G.; Manconi, B.; Maxia, A.; Piano, D.

In Silico Deciphering of the Potential Impact of Variants of Uncertain Significance in Hereditary Colorectal Cancer Syndromes

2024 - CELLS

Fasano, C.; Lepore Signorile, M.; De Marco, K.; Forte, G.; Disciglio, V.; Sanese, P.; Grossi, V.; Simone, C.

Understanding the molecular basis of folding cooperativity through a comparative analysis of a multidomain protein and its isolated domains

2023 - THE JOURNAL OF BIOLOGICAL CHEMISTRY

Santorelli, Daniele; Marcocci, Lucia; Pennacchietti, Valeria; Nardella, Caterina; Diop, Awa; Pietrangeli, Paola; Pagano, Livia; Toto, Angelo; Malagrino, Francesca; Gianni, Stefano

Mutation in the common docking domain affects MAP kinase ERK2 catalysis and stability

2023 - CANCERS

Novak, L.; Petrosino, M.; Pasquo, A.; Chaikuad, A.; Chiaraluce, R.; Knapp, S.; Consalvi, V.

Spatial organization of hydrophobic and charged residues affects protein thermal stability and binding affinity

2022 - SCIENTIFIC REPORTS

Desantis, Fausta; Miotto, Mattia; Di Rienzo, Lorenzo; Milanetti, Edoardo; Ruocco, Giancarlo

Analysis and interpretation of the impact of missense variants in cancer

2021 - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Petrosino, M.; Novak, L.; Pasquo, A.; Chiaraluce, R.; Turina, P.; Capriotti, E.; Consalvi, V

A glimpse into the structural properties of the intermediate and transition state in the folding of bromodomain 2 d2 by Î¦ value analysis

2021 - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Novak, Leonore; Petrosino, Maria; Santorelli, Daniele; Chiaraluce, Roberta; Consalvi, Valerio; Pasquo, Alessandra; Travaglini-Allocatelli, Carlo

Structural Basis of Tail-Anchored Membrane Protein Biogenesis by the GET Insertase Complex

2020 - MOLECULAR CELL

McDowell, M. A.; Heimes, M.; Fiorentino, F.; Mehmood, S.; Farkas, A.; Coy-Vergara, J.; Wu, D.; Bolla, J. R.; Schmid, V.; Heinze, R.; Wild, K.; Flemming, D.; Pfeffer, S.; Schwappach, B.; Robinson, C. V.; Sinning, I.

Characterization of human frataxin missense variants in cancer tissues

2019 - HUMAN MUTATION

Petrosino, Maria; Pasquo, Alessandra; Novak, Leonore; Toto, Angelo; Gianni, Stefano; Mantuano, Elide; Veneziano, Liana; Minicozzi, Velia; Pastore, Annalisa; Puglisi, Rita; Capriotti, Emidio; Chiaraluce, Roberta; Consalvi, Valerio

Association of a homozygous GCK missense mutation with mild diabetes

2019 - MOLECULAR GENETICS & GENOMIC MEDICINE

Marucci, A.; Biagini, T.; Di Paola, R.; Menzaghi, C.; Fini, G.; Castellana, S.; Cardinale, G. M.; Mazza, T.; Trischitta, V.

Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge

2019 - HUMAN MUTATION

Savojardo, C.; Petrosino, M.; Babbi, G.; Bovo, S.; Corbi-Verge, C.; Casadio, R.; Fariselli, P.; Folkman, L.; Garg, A.; Karimi, M.; Katsonis, P.; Kim, P. M.; Lichtarge, O.; Martelli, P. L.; Pasquo, A.; Pal, D.; Shen, Y.; Strokach, A. V.; Turina, P.; Zhou, Y.; Andreoletti, G.; Brenner, S. E.; Chiaraluce, R.; Consalvi, V.; Capriotti, E.

The Long Non-coding RNA lnc-31 Interacts with Rock1 mRNA and Mediates Its YB-1-Dependent Translation

2018 - CELL REPORTS

Dimartino, Dacia; Colantoni, Alessio; Ballarino, Monica; Martone, Julie; Mariani, Davide; Danner, Johannes; Bruckmann, Astrid; Meister, Gunter; Morlando, Mariangela; Bozzoni, Irene

The phosphoglycerate kinase 1 variants found in carcinoma cells display different catalytic activity and conformational stability compared to the native enzyme

2018 - PLOS ONE

Fiorillo, Annarita; Petrosino, Maria; Ilari, Andrea; Pasquo, Alessandra; Cipollone, Alessandra; Maggi, Maristella; Chiaraluce, Roberta; Consalvi, Valerio

Stability of vegetal diamine oxidase in simulated intestinal media: protective role of cholic acids

2018 - JOURNAL OF AGRICULTURAL AND FOOD CHEMISTRY

Neree, Armelle Tchoumi; Pietrangeli, Paola; Szabo, Pompilia Ispas; Mateescu, Mircea Alexandru; Marcocci, Lucia

Single-Nucleotide polymorphism of PPARÎ³, a protein at the crossroads of physiological and pathological processes

2017 - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Petrosino, Maria; Lori, Laura; Pasquo, Alessandra; Lori, Clorinda; Consalvi, Valerio; Minicozzi, Velia; Morante, Silvia; Laghezza, Antonio; Giorgi, Alessandra; Capelli, Davide; Chiaraluce, Roberta

Che-1 sustains hypoxic response of colorectal cancer cells by affecting Hif-1ÃÂ± stabilization

2017 - JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH

Bruno, Tiziana; Valerio, Mariacristina; Casadei, Luca; De Nicola, Francesca; Goeman, Frauke; Pallocca, Matteo; Catena, Valeria; Iezzi, Simona; Sorino, Cristina; Desantis, Agata; Manetti, Cesare; Blandino, Giovanni; Floridi, Aristide; Fanciulli, Maurizio

The stability and activity of human neuroserpin are modulated by a salt bridge that stabilises the reactive centre loop

2015 - SCIENTIFIC REPORTS

Noto, Rosina; Randazzo, Loredana; Raccosta, Samuele; Caccia, Sonia; Moriconi, Claudia; MIRANDA BANOS, MARIA ELENA; Martorana, Vincenzo; Manno, Mauro