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A recoded view on the F9 p.Cys178Ter pathogenic mechanism
Branchini, A.; Pinotti, M.     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
THROMBOSIS RESEARCH
Vol. 187, No. 1, pp: 88-90, Anno: 2020

Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency
Ferraresi, Paolo; Balestra, Dario; Guittard, Caroline; Buthiau, Delphine; Pan-Petesh, Brigitte; Maestri, Iva; Farah, Roula; Pinotti, Mirko; Giansily-Blaizot, Muriel     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
HAEMATOLOGICA
Vol. 105, No. 3, pp: 829-837, Anno: 2020

A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I
Balestra, Dario; Scalet, Daniela; Ferrarese, Mattia; Lombardi, Silvia; Ziliotto, Nicole; C. Croes, Chrystal; Petersen, Naomi; Bosma, Piter; Riccardi, Federico; Pagani, Franco; Pinotti, Mirko; van de Graaf, Stan F. J.     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Vol. 21, No. 6, pp: 2136-?, Anno: 2020

Akt-mediated phosphorylation of MICU1 regulates mitochondrial Ca 2+ levels and tumor growth
Marchi, S; Corricelli, M; Branchini, A; Vitto, VAM; Missiroli, S; Morciano, G; Perrone, M; Ferrarese, M; Giorgi, C; Pinotti, M; Galluzzi, L; Kroemer, G; Pinton, P;     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
EMBO JOURNAL
Vol. 38, No. 2, pp: 1-20, Anno: 2019

Disease-causing variants of the conserved+2T of 5 ' splice sites can be rescued by engineered U1snRNAs
Scalet, D; Maestri, I; Branchini, A; Bernardi, F; Pinotti, M; Balestra, D;     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
HUMAN MUTATION
Vol. 40, No. 1, pp: 48-52, Anno: 2019

Next generation factor VIIa with enhanced half-life
Ferrarese, M.; Nilsen, J.; Pinotti, M.; Bern, M.; Davidson, R. J.; Camire, R. M.; Lode, H. E.; Roopenian, D. C.; Sandlie, I.; Lombardi, S.; Castaman, G.; Andersen, J. T.; Branchini, A.     dettagli >>

Atto di Convegno (Proceedings)
Wiley, Abstracts of the XXVII Congress of the International Society on Thrombosis and Haemostasis, July 6-10, 2019
Vol. 3, No. S1, pp: 312-313, Anno: 2019

Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition
Ferrarese, M; Baroni, M; Della Valle, P; Spiga, I; Poloniato, A; D'Angelo, A; Pinotti, M; Bernardi, F; Branchini, A;     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
HAEMOPHILIA
Vol. 25, No. 4, pp: 685-692, Anno: 2019

The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies
Ferrarese, Mattia; Pignani, Silvia; Lombardi, Silvia; Balestra, Dario; Bernardi, Francesco; Pinotti, Mirko; Branchini, Alessio     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
THROMBOSIS RESEARCH
Vol. 173, No. 1, pp: 4-11, Anno: 2019

Favourable recombinant factor IX pharmacokinetics outcomes in severe hemophilia B patients with FIX activation site mutations
Branchini, A.; Morfini, M.; Zordan, T.; Bonsi, M.; Pinotti, M.; Serino, M. L.; Radossi, P.; Belvini, D.; Castaman, G.; Bernardi, F.     dettagli >>

Atto di Convegno (Proceedings)
Wiley, Abstracts of the XXVII Congress of the International Society on Thrombosis and Haemostasis, July 6-10, 2019
Vol. 3, No. S1, pp: 250-250, Anno: 2019

CRISPR activation on coagulation F7 or F8 promoters potentiate trascriptional activity in the normal and mutated gene context
Silvia, Pignani; Federico, Zappaterra; Elena, Barbon; Matteo, Bovolenta; Francesco, Bernardi; Alessio, Branchini; Mirko, Pinotti     dettagli >>

Atto di Convegno (Proceedings)
Wiley, RESEARCH AND PRACTICE IN THROMBOSIS AND HAEMOSTASIS
Vol. 3, No. S1, pp: 105-106, Anno: 2019

Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts
Pignani, Silvia; Zappaterra, Federico; Barbon, Elena; Follenzi, Antonia; Bovolenta, Matteo; Bernardi, Francesco; Branchini, Alessio; Pinotti, Mirko     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
BIOCHIMICA ET BIOPHYSICA ACTA. GENE REGULATORY MECHANISMS
Vol. 1862, No. 6, pp: 619-624, Anno: 2019

Exploring spontaneous readthrough over recurrent F8 nonsense mutations: potential correlation with inhibitor risk?
Lombardi, Silvia; Testa, Maria Francesca; Pinotti, Mirko; Castman, Giancarlo; Radossi, Paolo; Bernardi, Francesco; Branchini, Alessio     dettagli >>

Atto di Convegno (Proceedings)
Wiley, RESEARCH AND PRACTICE IN THROMBOSIS AND HAEMOSTASIS
Vol. 3, No. S1, pp: 110-111, Anno: 2019

Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA
Donadon, Irving; Bussani, Erica; Riccardi, Federico; Licastro, Danilo; Romano, Giulia; Pianigiani, Giulia; Pinotti, Mirko; Kostantinova, Pavlina; Evers, Melvin; Lin, Shuo; Rüegg, Markus A; Pagani, Franco     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
NUCLEIC ACIDS RESEARCH
Vol. ....., No. 1, pp: ??-., Anno: 2019

Rescue of multiple Haemophilia A-causing mutations by a single ExSpeU1: the importance of the genomic context
Balestra, Dario; Lombardi, Silvia; Leo, Gabriele; Calanchi, Irene; Bernardi, Francesco; Pinotti, Mirko     dettagli >>

Atto di Convegno (Proceedings)
David Lillicrap and James Morrissey, JOURNAL OF THROMBOSIS AND HAEMOSTASIS
Vol. 3, No. 1, pp: 313-313, Anno: 2019

Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants
Lombardi, Silvia; Ferrarese, Mattia; Marchi, Saverio; Pinton, Paolo; Pinotti, Mirko; Bernardi, Francesco; Branchini, Alessio     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
RNA BIOLOGY
Vol. -, No. 1, pp: 1-10, Anno: 2019

Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy
Balestra, Dario; Giorgio, Domenico; Bizzotto, Matteo; Fazzari, Maria; Ben Zeev, Bruria; Pinotti, Mirko; Landsberger, Nicoletta; Frasca, Angelisa     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Vol. 20, No. 17, pp: 4130-4145, Anno: 2019

An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A
Balestra, D; Maestri, I; Branchini, A; Ferrarese, M; Bernardi, F; Pinotti, M;     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
FRONTIERS IN GENETICS
Vol. 10, No. 1, pp: ?-?, Anno: 2019

Exon-Specific U1snRNA-Mediated Rescue of Splicing and Missense Changes in Hemophilia A
Lombardi, Silvia; Leo, Gabriele; Maestri, Iva; Bernardi, Francesco; Pinotti, Mirko; Mcvey, John Henderson; Balestra, Dario     dettagli >>

Atto di Convegno (Proceedings)
David Lillicrap and James Morrissey, .
Vol. 3, No. 1, pp: 105-105, Anno: 2019

The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII.
Baroni, Marcello; Pinotti, Mirko; Bernardi, Francesco     dettagli >>

Contributo in rivista (Pubblicazione in Rivista)
CELL & BIOSCIENCE
Vol. 9, No. 1, pp: 69-78, Anno: 2019

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 >>

Atto di Convegno (Proceedings)
Walter Ageno, Anna Falanga, Gianccarlo Castaman, BLOOD TRANSFUSION
Vol. 16, No. Supplement 4, pp: 456-456, Anno: 2018

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