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Mostrati risultati da 1 a 20 di 39
Titolo Data di pubblicazione Autore(i) File
Suppression of “leaky” nonsense mutations by ribosome readthrough accounts for residual factor IX levels in Haemophilia B patients 2015 Branchini, Alessio; Ferrarese, Mattia; Baroni, Marcello; Campioni, Matteo; Burini, Francesco; Nic...olosi, Federica; Castaman, Giancarlo; Radossi, Paolo; Bernardi, Francesco; Pinotti, Mirko file con accesso da definire
Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency 2016 Branchini, Alessio; Ferrarese, Mattia; Lombardi, Silvia; Mari, Rosella; Bernardi, Francesco; Pino...tti, Mirko
Transposon-mediated Generation of Cellular and Mouse Models of Splicing Mutations to Assess the Efficacy of snRNA-based Therapeutics 2016 Barbon, Elena; Ferrarese, Mattia; Wittenberghe, Laetitia van; Sanatine, Peggy; Ronzitti, Giuseppe...; Collaud, Fanny; Colella, Pasqualina; Pinotti, Mirko; Mingozzi, Federico
Responsiveness of hemophilia B- causing non sense mutations to ribosome readthrough-inducing drugs strictly depends on the nucleotide and prrotein context 2016 Branchini, Alessio; Ferrarese, Mattia; Lombardi, Silvia; Baroni, Marcello; Campioni, Matteo; Buri...ni, Francesco; Bernardi, Francesco; Pinotti, Mirko file con accesso da definire
Exploring chaperone-like compounds as innovative therapeutic strategy for Hemophilia B 2017 Pignani, S; Ferrarese, M; Lombardi, S; Marchi, S; Todaro, A; Pinton, P; Bernardi, F; Pinotti, M; ...Branchini, A file con accesso da definire
Exploring chaperone-like compounds as innovative therapeutic correction approach for factor IX missense mutations causing type I Haemophilia B 2017 Pignani, S; Todaro, A; Ferrarese, M; Marchi, S; Lombardi, S; Pinton, P; Bernardi, F; Pinotti, M; ...Branchini, A
An optimized in vitro expression platform identifies Haemophilia B nonsense mutations, and thus patients, eligible for therapeutic drug-induced readthrough 2017 Branchini, Alessio; Ferrarese, Mattia; Castaman, Giancarlo; Bernardi, Francesco; Pinotti, Mirko
Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations 2017 Branchini, Alessio; Ferrarese, Mattia; Campioni, Matteo; Castaman, Giancarlo; Mari, Rosella; Bern...ardi, Francesco; Pinotti, Mirko
Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B 2018 Ferrarese, Mattia; Testa, Maria Francesca; Balestra, Dario; Bernardi, Francesco; Pinotti, Mirko; ...Branchini, Alessio
Recombinant Expression of F9 Nonsense Mutations and Fix Pharmacokinetics in Hemophilia B 2018 Branchini, Alessio; Ferrarese, Mattia; Pinotti, Mirko; Bernardi, Francesco; Massimo, Morfini file con accesso da definire
Mutation-specific contributions to trace factor X levels account for a life-threating phenotype in a compound heterozygous factor X deficient patient 2018 Ferrarese, Mattia; Baroni, Marcello; Della Valle, Patrizia; Spiga, Ivana; Poloniato, Antonella; D...'Angelo, Armando; Bernardi, Francesco; Branchini, Alessio file con accesso da definire
Readthrough-mediated functional suppression of homozygous nonsense mutations accounts for variable bleeding phenotypes in factor VII deficiency 2018 Lombardi, Silvia; Ferrarese, Mattia; Pinotti, Mirko; Mari, Rosella; Bernardi, Francesco; Branchin...i, Alessio file con accesso da definire
The carboxyl-terminal region of human coagulation factor X as a novel naturally-occuring linker for fusion strategies 2018 Ferrarese, Mattia; Pignani, Silvia; Lombardi, Silvia; Balestra, Dario; Bernardi, Francesco; Pinot...ti, Mirko; Branchini, Alessio
The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation 2018 Pignani, S; Todaro, A; Ferrarese, M; Marchi, S; Lombardi, S; Balestra, D; Pinton, P; Bernardi, F;... Pinotti, M; Branchini, A
The chaperone-like compound sodium phenylbutyrate improves intracellular trafficking, secretion and coagulant activity of factor IX impaired by the frequent p.R294Q mutation 2018 Pignani, Silvia; Todaro, Alice; Ferrarese, Mattia; Marchi, Saverio; Lombardi, Silvia; Balestra, D...ario; Pinton, Paolo; Bernardi, Francesco; Pinotti, Mirko; Branchini, Alessio
Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B 2018 Ferrarese, Mattia; Testa, Maria Francesca; Balestra, Dario; Bernardi, Francesco; Pinotti, Mirko; ...Branchini, Alessio
Identification of novel mechanisms underlying functional response to drug-induced readthrough of haemophilia B nonsense mutations 2018 Ferrarese, Mattia; Bernardi, Francesco; Pinotti, Mirko; Branchini, Alessio
A strategy with chaperone-like compounds to restore expression of factor IX variants affected by frequent missense mutations causing hemophilia B 2018 Pignani, Silvia; Todaro, Alice; Ferrarese, Mattia; Marchi, Saverio; Lombardi, Silvia; Balestra, D...ario; Pinton, Paolo; Bernardi, Francesco; Pinotti, Mirko; Branchini, Alessio
Protein engineering and pharmacological approaches to develop novel treatment strategies for coagulation disorders 2018 Ferrarese, Mattia
Next generation factor VIIa with enhanced half-life 2019 Ferrarese, M.; Nilsen, J.; Pinotti, M.; Bern, M.; Davidson, R. J.; Camire, R. M.; Lode, H. E.; Ro...openian, D. C.; Sandlie, I.; Lombardi, Silvia; Castaman, G.; Andersen, J. T.; Branchini, A.
Mostrati risultati da 1 a 20 di 39
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