DUGA, STEFANO
DUGA, STEFANO
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale
2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ : Design, Synthesis, and Structure Activity Relationships
2017 V. Straniero, C. Zanotto, L. Straniero, A. Casiraghi, S. Duga, A. Radaelli, C. De Giuli Morghen, E. Valoti
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest
2018 M. Samarani, N. Loberto, G. Soldà, L. Straniero, R. Asselta, S. Duga, G. Lunghi, F.A. Zucca, L. Mauri, M.G. Ciampa, D. Schiumarini, R. Bassi, P. Giussani, E. Chiricozzi, A. Prinetti, M. Aureli, S. Sonnino
A novel deafness-associated mutation within the microRNA MIR96 gene alters pre-miRNA folding and processing
2011 M. Robusto, R. Asselta, P. Primignani, P. Castorina, E. Benzoni, A. Cesarani, U. Ambrosetti, S. Duga, G. Soldà
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency
2007 C. Bozzao, V. Rimoldi, R. Asselta, M. Landau, R. Ghiotto, M.L. Tenchini, R. De Cristofaro, G. Castaman, S. Duga
A novel fibrinogen gamma chain mutation (gamma 239 Gln -> His) is the cause of dysfibrinogenemia Vicenza
2005 G. Castaman, R. Ghiotto, S. Duga, F. Rodeghiero
A novel homozygous VPS11 variant may cause generalized dystonia
2021 E. Monfrini, F. Cogiamanian, S. Salani, L. Straniero, G. Fagiolari, M. Garbellini, E. Carsana, L. Borellini, F. Biella, M. Moggio, N. Bresolin, S. Corti, S. Duga, G.P. Comi, M. Aureli, A. Di Fonzo
A novel mutation in MIR96 in an Italian family with nonsyndromic inherited hearing loss
2011 G.M. Soldà, M. Robusto, R. Asselta, P. Primignani, D. Coviello, P. Castorina, U. Ambrosetti, S. Duga
A novel mutation within the MIR96 gene causes nonsyndromic inherited hearing loss in an Italian family by altering pre-miRNA processing
2011 M. Robusto, G. Soldà, P. Primignani, P. Castorina, E. Benzoni, A. Cesarani, U. Ambrosetti, R. Asselta, S. Duga
A type mutation II (Glu117stop), induction of allele-specific mRNA degradation and FXI deficiency
2005 G. Soldà, R. Asselta, R. Ghiotto, M. Malcovati, M.L. Tenchini, G. Castaman, S. Duga
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality
2021 T. Nakanishi, S. Pigazzini, F. Degenhardt, M. Cordioli, G. Butler-Laporte, D. Maya-Miles, L. Bujanda, Y. Bouysran, M.E.K. Niemi, A. Palom, D. Ellinghaus, A. Khan, M. Martinez-Bueno, S. Rolker, S. Amitrano, L.R. Tato, F. Fava, F. Gen, C.D. Spinner, D. Prati, D. Bernardo, F. Garcia, G. Darcis, I. Fernandez-Cadenas, J.C. Holter, J.M. Banales, R. Frithiof, K. Kiryluk, S. Duga, R. Asselta, A.C. Pereira, M. Romero-Gomez, B. Nafria-Jimenez, J.R. Hov, I. Migeotte, A. Renieri, A.M. Planas, K.U. Ludwig, M. Buti, S. Rahmouni, M.E. Alarcon-Riquelme, E.C. Schulte, A. Franke, T.H. Karlsen, L. Valenti, H. Zeberg, J.B. Richards, A. Ganna
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
2018 M. de Majo, S.D. Topp, B.N. Smith, A.L. Nishimura, H. Chen, A.S. Gkazi, J. Miller, C.H. Wong, C. Vance, F. Baas, A.L.M.A. ten Asbroek, K.P. Kenna, N. Ticozzi, A.G. Redondo, J. Esteban-Pérez, C. Tiloca, F. Verde, S. Duga, K.E. Morrison, P.J. Shaw, J. Kirby, M.R. Turner, K. Talbot, O. Hardiman, J.D. Glass, J. de Belleroche, C. Gellera, A. Ratti, A. Al-Chalabi, R.H. Brown, V. Silani, J.E. Landers, C.E. Shaw
Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies
2010 G. Castaman, M. Platè, S.H. Giacomelli, F. Rodeghiero, S. Duga
Alternative splicing and nonsense-mediated decay in the F5 gene
2007 C. Dall’Osso, S. Duga, N. Locatelli, F. Peyvandi, M.L. Tenchini, R. Asselta
Analysis of factor V in zebrafish demonstrates minimal levels needed for early hemostasis
2019 A.C. Weyand, S.J. Grzegorski, M.S. Rost, K.I. Lavik, A.C. Ferguson, M. Menegatti, C.E. Richter, R. Asselta, S. Duga, F. Payvandi, J.A. Shavit
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia
2002 R. Asselta, S. Spena, S. Duga, F. Peyvandi, M. Malcovati, P.M. Mannucci, M.L. Tenchini
Analysis of the 16S rRNA gene sequence of the coryneform bacterium associated with hyperkeratotic dermatitis of athymic nude mice and development of a PCR-based detection assay
1998 S. Duga, A. Gobbi, R. Asselta, L. Crippa, M. L. Tenchini, T. Simonic, E. Scanziani
Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency
2009 S. Spena, R. Asselta, S. Caccia, V. Rimoldi, S.H. Giacomelli, A. Tagliaferri, F. Peyvandi, G. Castaman, S. Duga
Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency : molecular characterization by expression of the recombinant protein
2003 S. Duga, M.C. Montefusco, R. Asselta, M. Malcovati, F. Peyvandi, E. Santagostino, P.M. Mannucci, M.L. Tenchini
Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease
2012 I. Guella, G. Soldà, R. Cilia, G. Pezzoli, R. Asselta, S. Duga, S. Goldwurm
Association and functional analyses of MEF2A as a susceptibility gene for premature myocardial infarction and coronary artery disease
2009 I. Guella, V. Rimoldi, R. Asselta, D. Ardissino, M. Francolini, N. Martinelli, D. Girelli, F. Peyvandi, M. Tubaro, P.A. Merlini, P.M. Mannucci, S. Duga