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Disease-causing variants of the conserved +2T of 5′ splice sites can be rescued by engineered U1snRNAs
Scalet, Daniela; Maestri, Iva; Branchini, Alessio; Bernardi, Francesco; Pinotti, Mirko; Balestra, Dario     details >>
HUMAN MUTATION
Vol. 40, No. 1, pp: 48-52, Anno: 2019

Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition
Ferrarese, Mattia; Baroni, Marcello; Della Valle, Patrizia; Spiga, Ivana; Poloniato, Antonella; D'Angelo, Armando; Pinotti, Mirko; Bernardi, Francesco; Branchini, Alessio     details >>
HAEMOPHILIA
Vol. X, No. 1, pp: 1-8, 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     details >>
BIOCHIMICA ET BIOPHYSICA ACTA. GENE REGULATORY MECHANISMS
Vol. 1862, No. 6, pp: 619-624, 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     details >>
THROMBOSIS RESEARCH
Vol. 173, No. 1, pp: 4-11, 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     details >>
NUCLEIC ACIDS RESEARCH
Vol. ....., No. 1, pp: ??-., Anno: 2019

Role of clinical and laboratory parameters for treatment choice in patients with inherited FVII deficiency undergoing surgical procedures: evidence from the STER registry
Di Minno, Matteo N. D.; Napolitano, Mariasanta; Dolce, Alberto; Mariani, Guglielmo; Auerswald, Guenter; Batorova, Angelica; Bernardi, Francesco; Di Minno, Giovanni; Giansilly-Balizot, Muriel; Ingerslev, Jorgen; Martinowitz, Uri; Morfini, Massimo; Pinotti, Mirko; Shapiro, Amy; Siragusa, Sergio; Schved, Jean Francois; Sørensen, Benny     details >>
BRITISH JOURNAL OF HAEMATOLOGY
Vol. 180, No. 4, pp: 563-570, Anno: 2018

Activation of Endoplasmic Reticulum Stress and Unfolded Protein Response in Congenital Factor VII Deficiency
Andersen, Elisabeth; Chollet, Maria Eugenia; Myklebust, Christiane Filion; Pinotti, Mirko; Bernardi, Francesco; Chuansumrit, Ampaiwan; Skarpen, Ellen; Sandset, Per Morten; Skretting, Grethe     details >>
THROMBOSIS AND HAEMOSTASIS
Vol. 118, No. 4, pp: 664-675, Anno: 2018

Akt-mediated phosphorylation of MICU1 regulates mitochondrial Ca2+ levels and tumor growth
Marchi, Saverio; Corricelli, Mariangela; Branchini, Alessio; Vitto, Veronica Angela Maria; Missiroli, Sonia; Morciano, Giampaolo; Perrone, Mariasole; Ferrarese, Mattia; Giorgi, Carlotta; Pinotti, Mirko; Galluzzi, Lorenzo; Kroemer, Guido; Pinton, Paolo     details >>
EMBO JOURNAL
Vol. ---, No. 1, pp: e99435----, Anno: 2018

Factor VII deficiency: Unveiling the cellular and molecular mechanisms underlying three model alterations of the enzyme catalytic domain
Chollet, Maria Eugenia; Andersen, Elisabeth; Skarpen, Ellen; Myklebust, Christiane F.; Koehler, Christian; Morth, Jens Preben; Chuansumrit, Ampaiwan; Pinotti, Mirko; Bernardi, Francesco; Thiede, Bernd; Sandset, Per Morten; Skretting, Grethe     details >>
BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE
Vol. 1864, No. 3, pp: 660-667, 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     details >>
HUMAN MUTATION
Vol. 39, No. 5, pp: 702-708, Anno: 2018

The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation
Pignani, S; Todaro, A; Ferrarese, M; Marchi, S; Lombardi, S; Balestra, D; Pinton, P; Bernardi, F; Pinotti, M; Branchini, A     details >>
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
Vol. 16, No. 10, pp: 2035-2043, Anno: 2018

The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction
Scalet, Daniela; Sacchetto, Claudia; Bernardi, Francesco; Pinotti, Mirko; Van De Graaf, Stan F. J.; Balestra, Dario     details >>
JOURNAL OF HUMAN GENETICS
Vol. 63, No. 5, pp: 683-686, Anno: 2018

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model
Donadon, Irving; Pinotti, Mirko; Rajkowska, Katarzyna; Pianigiani, Giulia; Barbon, Elena; Morini, Elisabetta; Motaln, Helena; Rogelj, Boris; Mingozzi, Federico; Slaugenhaupt, Susan A.; Pagani, Franco     details >>
HUMAN MOLECULAR GENETICS
Vol. 27, No. 14, pp: 2466-2476, Anno: 2018

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity
Donadon, Irving; Mcvey, John H.; Garagiola, Isabella; Branchini, Alessio; Mortarino, Mimosa; Peyvandi, Flora; Bernardi, Francesco; Pinotti, Mirko     details >>
HAEMATOLOGICA
Vol. 103, No. 2, pp: 344-350, Anno: 2018

Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations
Branchini, Alessio; Ferrarese, Mattia; Campioni, Matteo; Castaman, Giancarlo; Mari, Rosella; Bernardi, Francesco; Pinotti, Mirko     details >>
BLOOD
Vol. 129, No. 16, pp: 2303-2307-2307, Anno: 2017

Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy
Scalet, Daniela; Balestra, Dario; Rohban, Sara; Bovolenta, Matteo; Perrone, Daniela; Bernardi, Francesco; Campaner, Stefano; Pinotti, Mirko     details >>
BIOCHIMICA ET BIOPHYSICA ACTA
Vol. 1863, No. 1, pp: 15-20, Anno: 2017

Gene therapy-based prophylaxis to rescue the "prima ballerina"
Bernardi, Francesco; Pinotti, Mirko     details >>
TRANSLATIONAL CANCER RESEARCH
Vol. 5, No. S1, pp: S9-S12, Anno: 2016

Fo ATP synthase C subunit serum levels in patients with ST-segment Elevation Myocardial Infarction: Preliminary findings
Campo, Gianluca; Morciano, Giampaolo; Pavasini, Rita; Bonora, Massimo; Sbano, Luigi; Biscaglia, Simone; Bovolenta, Matteo; Pinotti, Mirko; Punzetti, Silvia; Rizzo, Paola; Aquila, Giorgio; Giorgi, Carlotta; Ferrari, Roberto; Pinton, Paolo     details >>
INTERNATIONAL JOURNAL OF CARDIOLOGY
Vol. 221, No. 1, pp: 993-997, Anno: 2016

Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
Tajnik, Mojca; Rogalska, Malgorzata Ewa; Bussani, Erica; Barbon, Elena; Balestra, Dario; Pinotti, Mirko; Pagani, Franco     details >>
PLOS GENETICS
Vol. 12, No. 5, pp: e1006082-..., Anno: 2016

Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency
Branchini, Alessio; Ferrarese, Mattia; Lombardi, Silvia; Mari, Rosella; Bernardi, Francesco; Pinotti, Mirko     details >>
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
Vol. 14, No. 10, pp: 1994-2000, Anno: 2016

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