Modeling cellular compartmentation in one-carbon metabolism

Por Scotti, Marco, Stella, Lorenzo, Shearer, Emily J., Stover, Patrick J.
Publicado no Wiley Interdiscip Rev Syst Biol Med (2013)

Mechanism of Membrane Activity of the Antibiotic Trichogin GA IV: A Two-State Transition Controlled by Peptide Concentration

Por Mazzuca, Claudia, Stella, Lorenzo, Venanzi, Mariano, Formaggio, Fernando, Toniolo, Claudio, Pispisa, Basilio
Publicado em 2005

Aggregation and Water-Membrane Partition as Major Determinants of the Activity of the Antibiotic Peptide Trichogin GA IV

Por Stella, Lorenzo, Mazzuca, Claudia, Venanzi, Mariano, Palleschi, Antonio, Didonè, Mara, Formaggio, Fernando, Toniolo, Claudio, Pispisa, Basilio
Publicado em 2004

Interaction Study of Phospholipid Membranes with an N-Glucosylated β-Turn Peptide Structure Detecting Autoantibodies Biomarkers of Multiple Sclerosis

Por Becucci, Lucia, Benci, Stefano, Nuti, Francesca, Real-Fernandez, Feliciana, Vaezi, Zahra, Stella, Lorenzo, Venanzi, Mariano, Rovero, Paolo, Papini, Anna Maria
Publicado no Membranes (Basel) (2015)

Glutathione transferase P1-1: self-preservation of an anti-cancer enzyme.

Por Ricci, Giorgio, Caccuri, Anna Maria, Lo Bello, Mario, Parker, Michael W, Nuccetelli, Marzia, Turella, Paola, Stella, Lorenzo, Di Iorio, Ernesto E, Federici, Giorgio
Publicado em 2003

Mutations in PAX2 Associate with Adult-Onset FSGS

Por Barua, Moumita, Stellacci, Emilia, Stella, Lorenzo, Weins, Astrid, Genovese, Giulio, Muto, Valentina, Caputo, Viviana, Toka, Hakan R., Charoonratana, Victoria T., Tartaglia, Marco, Pollak, Martin R.
Publicado em 2014

Tetramerization and Cooperativity in Plasmodium falciparum Glutathione S-Transferase Are Mediated by Atypic Loop 113–119

Por Liebau, Eva, Dawood, Kutayba F., Fabrini, Raffaele, Fischer-Riepe, Lena, Perbandt, Markus, Stella, Lorenzo, Pedersen, Jens Z., Bocedi, Alessio, Petrarca, Patrizia, Federici, Giorgio, Ricci, Giorgio
Publicado em 2009

Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype

Por Carta, Claudio, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Stella, Lorenzo, Vasta, Isabella, Sarkozy, Anna, Digilio, Cristina, Palleschi, Antonio, Pizzuti, Antonio, Grammatico, Paola, Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco
Publicado em 2006

Nuclear Shield: A Multi-Enzyme Task-Force for Nucleus Protection

Por Fabrini, Raffaele, Bocedi, Alessio, Pallottini, Valentina, Canuti, Lorena, De Canio, Michele, Urbani, Andrea, Marzano, Valeria, Cornetta, Tommaso, Stano, Pasquale, Giovanetti, Anna, Stella, Lorenzo, Canini, Antonella, Federici, Giorgio, Ricci, Giorgio
Publicado em 2010

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

Por Martinelli, Simone, Torreri, Paola, Tinti, Michele, Stella, Lorenzo, Bocchinfuso, Gianfranco, Flex, Elisabetta, Grottesi, Alessandro, Ceccarini, Marina, Palleschi, Antonio, Cesareni, Gianni, Castagnoli, Luisa, Petrucci, Tamara C., Gelb, Bruce D., Tartaglia, Marco
Publicado em 2008

Counteracting Effects Operating on Src Homology 2 Domain-containing Protein-tyrosine Phosphatase 2 (SHP2) Function Drive Selection of the Recurrent Y62D and Y63C Substitutions in N...

Por Martinelli, Simone, Nardozza, Aurelio P., Delle Vigne, Silvia, Sabetta, Gilda, Torreri, Paola, Bocchinfuso, Gianfranco, Flex, Elisabetta, Venanzi, Serenella, Palleschi, Antonio, Gelb, Bruce D., Cesareni, Gianni, Stella, Lorenzo, Castagnoli, Luisa, Tartaglia, Marco
Publicado em 2012

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

Por Tartaglia, Marco, Martinelli, Simone, Stella, Lorenzo, Bocchinfuso, Gianfranco, Flex, Elisabetta, Cordeddu, Viviana, Zampino, Giuseppe, Burgt, Ineke van der, Palleschi, Antonio, Petrucci, Tamara C., Sorcini, Mariella, Schoch, Claudia, Foà, Robin, Emanuel, Peter D., Gelb, Bruce D.
Publicado em 2006

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Por Caputo, Viviana, Cianetti, Luciano, Niceta, Marcello, Carta, Claudio, Ciolfi, Andrea, Bocchinfuso, Gianfranco, Carrani, Eugenio, Dentici, Maria Lisa, Biamino, Elisa, Belligni, Elga, Garavelli, Livia, Boccone, Loredana, Melis, Daniela, Andria, Generoso, Gelb, Bruce D., Stella, Lorenzo, Silengo, Margherita, Dallapiccola, Bruno, Tartaglia, Marco
Publicado em 2012

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

Por Chong, Jessica X., Caputo, Viviana, Phelps, Ian G., Stella, Lorenzo, Worgan, Lisa, Dempsey, Jennifer C., Nguyen, Alina, Leuzzi, Vincenzo, Webster, Richard, Pizzuti, Antonio, Marvin, Colby T., Ishak, Gisele E., Ardern-Holmes, Simone, Richmond, Zara, Bamshad, Michael J., Ortiz-Gonzalez, Xilma R., Tartaglia, Marco, Chopra, Maya, Doherty, Dan
Publicado no Am J Hum Genet (2016)

The Impact of Nitric Oxide Toxicity on the Evolution of the Glutathione Transferase Superfamily: A PROPOSAL FOR AN EVOLUTIONARY DRIVING FORCE

Por Bocedi, Alessio, Fabrini, Raffaele, Farrotti, Andrea, Stella, Lorenzo, Ketterman, Albert J., Pedersen, Jens Z., Allocati, Nerino, Lau, Peter C. K., Grosse, Stephan, Eltis, Lindsay D., Ruzzini, Antonio, Edwards, Thomas E., Morici, Laura, Del Grosso, Erica, Guidoni, Leonardo, Bovi, Daniele, Lo Bello, Mario, Federici, Giorgio, Parker, Michael W., Board, Philip G., Ricci, Giorgio
Publicado em 2013

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia

Por Flex, Elisabetta, Petrangeli, Valentina, Stella, Lorenzo, Chiaretti, Sabina, Hornakova, Tekla, Knoops, Laurent, Ariola, Cristina, Fodale, Valentina, Clappier, Emmanuelle, Paoloni, Francesca, Martinelli, Simone, Fragale, Alessandra, Sanchez, Massimo, Tavolaro, Simona, Messina, Monica, Cazzaniga, Giovanni, Camera, Andrea, Pizzolo, Giovanni, Tornesello, Assunta, Vignetti, Marco, Battistini, Angela, Cavé, Hélène, Gelb, Bruce D., Renauld, Jean-Christophe, Biondi, Andrea, Constantinescu, Stefan N., Foà, Robin, Tartaglia, Marco
Publicado em 2008

SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations

Por Lepri, Francesca, De Luca, Alessandro, Stella, Lorenzo, Rossi, Cesare, Baldassarre, Giuseppina, Pantaleoni, Francesca, Cordeddu, Viviana, Williams, Bradley J, Dentici, Maria L, Caputo, Viviana, Venanzi, Serenella, Bonaguro, Michela, Kavamura, Ines, Faienza, Maria F, Pilotta, Alba, Stanzial, Franco, Faravelli, Francesca, Gabrielli, Orazio, Marino, Bruno, Neri, Giovanni, Silengo, Margherita Cirillo, Ferrero, Giovanni B, Torrrente, Isabella, Selicorni, Angelo, Mazzanti, Laura, Digilio, Maria C, Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D, Tartaglia, Marco
Publicado em 2011

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Por Niceta, Marcello, Stellacci, Emilia, Gripp, Karen W., Zampino, Giuseppe, Kousi, Maria, Anselmi, Massimiliano, Traversa, Alice, Ciolfi, Andrea, Stabley, Deborah, Bruselles, Alessandro, Caputo, Viviana, Cecchetti, Serena, Prudente, Sabrina, Fiorenza, Maria T., Boitani, Carla, Philip, Nicole, Niyazov, Dmitriy, Leoni, Chiara, Nakane, Takaya, Keppler-Noreuil, Kim, Braddock, Stephen R., Gillessen-Kaesbach, Gabriele, Palleschi, Antonio, Campeau, Philippe M., Lee, Brendan H.L., Pouponnot, Celio, Stella, Lorenzo, Bocchinfuso, Gianfranco, Katsanis, Nicholas, Sol-Church, Katia, Tartaglia, Marco
Publicado no Am J Hum Genet (2015)

Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome

Por Cordeddu, Viviana, Yin, Jiani C., Gunnarsson, Cecilia, Virtanen, Carl, Drunat, Séverine, Lepri, Francesca, De Luca, Alessandro, Rossi, Cesare, Ciolfi, Andrea, Pugh, Trevor J., Bruselles, Alessandro, Priest, James R., Pennacchio, Len A., Lu, Zhibin, Danesh, Arnavaz, Quevedo, Rene, Hamid, Alaa, Martinelli, Simone, Pantaleoni, Francesca, Gnazzo, Maria, Daniele, Paola, Lissewski, Christina, Bocchinfuso, Gianfranco, Stella, Lorenzo, Odent, Sylvie, Philip, Nicole, Faivre, Laurence, Vlckova, Marketa, Seemanova, Eva, Digilio, Cristina, Zenker, Martin, Zampino, Giuseppe, Verloes, Alain, Dallapiccola, Bruno, Roberts, Amy E., Cavé, Hélène, Gelb, Bruce D., Neel, Benjamin G., Tartaglia, Marco
Publicado no Hum Mutat (2015)

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Por Flex, Elisabetta, Jaiswal, Mamta, Pantaleoni, Francesca, Martinelli, Simone, Strullu, Marion, Fansa, Eyad K., Caye, Aurélie, De Luca, Alessandro, Lepri, Francesca, Dvorsky, Radovan, Pannone, Luca, Paolacci, Stefano, Zhang, Si-Cai, Fodale, Valentina, Bocchinfuso, Gianfranco, Rossi, Cesare, Burkitt-Wright, Emma M.M., Farrotti, Andrea, Stellacci, Emilia, Cecchetti, Serena, Ferese, Rosangela, Bottero, Lisabianca, Castro, Silvana, Fenneteau, Odile, Brethon, Benoît, Sanchez, Massimo, Roberts, Amy E., Yntema, Helger G., Van Der Burgt, Ineke, Cianci, Paola, Bondeson, Marie-Louise, Cristina Digilio, Maria, Zampino, Giuseppe, Kerr, Bronwyn, Aoki, Yoko, Loh, Mignon L., Palleschi, Antonio, Di Schiavi, Elia, Carè, Alessandra, Selicorni, Angelo, Dallapiccola, Bruno, Cirstea, Ion C., Stella, Lorenzo, Zenker, Martin, Gelb, Bruce D., Cavé, Hélène, Ahmadian, Mohammad R., Tartaglia, Marco
Publicado em 2014