1   2   3   4  
Recombinant Expression of F9 Nonsense Mutations and Fix Pharmacokinetics in Hemophilia B
Branchini, Alessio; Ferrarese, Mattia; Pinotti, Mirko; Bernardi, Francesco; Morfini, Massimo    
Wiley, Abstracts of the 64th Annual Meeting of the Scientific Standardization Committee of the International Society on Thrombosis and Haemostasis
Vol. 2, No. S1, pp: 66-66, Anno: 2018

Rescue of missense and splicing mutations in Haemophilia A by a unique Exon Specific U1snRNA
Balestra, Dario; Scalet, Daniela; Leo, Gabriele; Donadon, I.; Lombardi, Silvia; Bernardi, Francesco; Pinotti, M.     dettagli >>
Edizioni SIMTI, Blood transfusion
Vol. 16, No. 4, pp: 454-454, Anno: 2018

The carboxyl-terminal region of human coagulation factor X as a novel naturally-occuring linker for fusion strategies
Ferrarese, Mattia; Pignani, Silvia; Lombardi, Silvia; Balestra, Dario; Bernardi, Francesco; Pinotti, Mirko; Branchini, Alessio     dettagli >>
Walter Ageno, Anna Falanga, Gianccarlo Castaman, BLOOD TRANSFUSION
Vol. 16, No. Supplement 4, pp: 418-418, Anno: 2018

Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B
Ferrarese, Mattia; Testa, Maria Francesca; Balestra, Dario; Bernardi, Francesco; Pinotti, Mirko; Branchini, Alessio     dettagli >>
Walter Ageno, Anna Falanga, Gianccarlo Castaman, BLOOD TRANSFUSION
Vol. 16, No. Supplement 4, pp: 456-456, Anno: 2018

The chaperone-like compound sodium phenylbutyrate improves intracellular trafficking, secretion and coagulant activity of factor IX impaired by the frequent p.R294Q mutation
Pignani, Silvia; Todaro, Alice; Ferrarese, Mattia; Marchi, Saverio; Lombardi, Silvia; Balestra, Dario; Pinton, Paolo; Bernardi, Francesco; Pinotti, Mirko; Branchini, Alessio     dettagli >>
Walter Ageno, Anna Falanga, Gianccarlo Castaman, BLOOD TRANSFUSION
Vol. 16, No. Supplement 4, pp: 418-418, Anno: 2018

Readthrough-mediated functional suppression of homozygous nonsense mutations accounts for variable bleeding phenotypes in factor VII deficiency
Lombardi, Silvia; Ferrarese, Mattia; Pinotti, Mirko; Mari, Rosella; Bernardi, Francesco; Branchini, Alessio     dettagli >>
Walter Ageno, Anna Falanga, Gianccarlo Castaman, BLOOD TRANSFUSION
Vol. 16, No. Supplement 4453, pp: 453-454, Anno: 2018

The carboxyl-terminal region is not essential for secreted and functional levels of coagulation factor X
Branchini, A.; Baroni, M.; Burini, F.; Mari, R.; Gemmati, D.; Puzzo, F.; Bernardi, F.; Pinotti, M.     dettagli >>
Anna Falanga, BLOOD TRANSFUSION
Vol. 14, No. Suppl 5, pp: 717-717, Anno: 2016

MOLECULAR MECHANISMS AND THERAPEUTIC APROACHES FOR RESTORATION OF mRNA TRANSCRIPTION, MATURATION AND TRANSLATION IN INHERITED COAGULATION FACTOR DEFICIENCIES
Balestra, D; Bovolenta, M; Branchini, A; Pinotti, M; Bernardi, F     dettagli >>
Anna Falanga, BLOOD TRANSFUSION
Vol. 14, No. 1, pp: 694-706, Anno: 2016

RESPONSIVENESS OF HEMOPHILIA B-CAUSING NONSENSE MUTATIONS TO RIBOSOME READTHROUGH-INDUCING DRUGS STRICTLY DEPENDS ON THE NUCLEOTIDE AND PROTEIN CONTEXT
Branchini, Alessio; Ferrarese, Mattia; Lombardi, Silvia; Baroni, Marcello; Campioni, Matteo; Burini, Francesco; Bernardi, Francesco; Pinotti, Mirko     dettagli >>
Ferrata-Storti Foundation/European Hematology Association, HAEMATOLOGICA
Vol. 101, No. s1, pp: 169-170, Anno: 2016

Suppression of “leaky” nonsense mutations by ribosome readthrough accounts for residual factor IX levels in Haemophilia B patients
Branchini, Alessio; Ferrarese, Mattia; Baroni, Marcello; Campioni, Matteo; Burini, Francesco; Nicolosi, Federica; Castaman, Giancarlo; Radossi, Paolo; Bernardi, Francesco; Pinotti, Mirko     dettagli >>
Sam Schulman, JOURNAL OF THROMBOSIS AND HAEMOSTASIS
Vol. Volume 13, Issue Supplement S2, No. 1, pp: 209-209, Anno: 2015

Coagulation factor VII variants resistant to inhibitory antibodies
Alessio Branchini; Marcello Baroni; Caroline Pfeiffer; Angelika Batorova; Muriel Giansily-Blaizot; Jean F. Schved; Guglielmo Mariani; Francesco Bernardi; Mirko Pinotti     dettagli >>
Annalisa Fattorini and Armando D'Angelo, THROMBOSIS RESEARCH
Vol. 134, No. Supplement 2, pp: S96-S96, Anno: 2014

A strategy with chaperone-like compounds to restore expression of factor IX variants affected by frequent missense mutations causing hemophilia B
Pignani, Silvia; Todaro, Alice; Ferrarese, Mattia; Marchi, Saverio; Lombardi, Silvia; Balestra, Dario; Pinton, Paolo; Bernardi, Francesco; Pinotti, Mirko; Branchini, Alessio     dettagli >>
Wolters Kluwer, Abstract book of the 23rd Congress of the European Hematology Association
Vol. 2, No. S1, pp: 393-393, Anno: 2018

Identification of novel mechanisms underlying functional response to drug-induced readthrough of haemophilia B nonsense mutations
Ferrarese, Mattia; Bernardi, Francesco; Pinotti, Mirko; Branchini, Alessio    
Wolters Kluwer, Abstract book of the 23rd Congress of the European Hematology Association
Vol. 2, No. S1, pp: 99-99, Anno: 2018

An optimized in vitro expression platform identifies Haemophilia B nonsense mutations, and thus patients, eligible for therapeutic drug-induced readthrough
Branchini, Alessio; Ferrarese, Mattia; Castaman, Giancarlo; Bernardi, Francesco; Pinotti, Mirko    
Edizioni SIMTI, Blood Transfusion
Vol. 15, No. Suppl 4, pp: 540-540, Anno: 2017

Exploring chaperone-like compounds as innovative therapeutic strategy for Hemophilia B
Pignani, S; Ferrarese, M; Lombardi, S; Marchi, S; Todaro, A; Pinton, P; Bernardi, F; Pinotti, M; Branchini, A    
Wiley, Abstracts of the XXVI Congress of the International Society on Thrombosis and Haemostasis, July 8-13, 2017
Vol. 1, No. S1, pp: 155-155, Anno: 2017

Exploring chaperone-like compounds as innovative therapeutic correction approach for factor IX missense mutations causing type I Haemophilia B
Pignani, Silvia; Todaro, A; Ferrarese, M; Marchi, S; Lombardi, S; Pinton, P; Bernardi, F; Pinotti, M; Branchini, A    
Edizioni SIMTI, Blood Transfusion
Vol. 15, No. Suppl 4, pp: 541-541, Anno: 2017

A unique exon specific U1snRNA rescues different haemophilia B - causing splicing-defective factor IX variants in mice
Balestra, D; Scalet, D; Pagani, F; Bernardi, F; Pinotti, M    
WILEY-BLACKWELL, JOURNAL OF THROMBOSIS AND HAEMOSTASIS
pp: 208-209, Anno: 2015

Correction of aberrant splicing causing haemophilia B through the combination of compensatory U1snRNAs and antisense oligonucleotides
Scalet, D; Balestra, D; Barbon, E; Cavallari, N; Perrone, D; Bernardi, F; Pinotti, M    
WILEY-BLACKWELL, JOURNAL OF THROMBOSIS AND HAEMOSTASIS
pp: 210-210, Anno: 2015

Engineered transcription factors (TALE-TF) as potential therapeutic strategy for coagulation factor deficiencies caused by promoter mutations
Barbon, E; Pignani, S; Branchini, A; Bernardi, F; Pinotti, M; Bovolenta, M    
WILEY-BLACKWELL, Abstracts of the XXV Congress of the International Society on Thrombosis and Haemostasis, June 20–25, 2015
Vol. 13, No. S2, pp: 162-163, Anno: 2015

A very rare simultaneous presence of a ring chromosome 13 and a splicing site mutation on Factor X gene
M. Menegatti; D. Balestra; B. Fabrizzi; R. Asselta; M. Pinotti; F. Peyvandi    
Pieter Reitsma and Frits Rosendaal, JOURNAL OF THROMBOSIS AND HAEMOSTASIS
Vol. 11, No. 2, pp: 194-195, Anno: 2013

1   2   3   4