Pubblicazioni:

Basophil Blood Cell Count Is Associated With Enhanced Factor II Plasma Coagulant Activity and Increased Risk of Mortality in Patients With Stable Coronary Artery Disease: Not Only Neutrophils as Prognostic Marker in Ischemic Heart Disease.

Pizzolo F, Castagna A, Olivieri O, Girelli D, Friso S, Stefanoni F, Udali S, Munerotto V, Baroni M, Cetera V, Luciani GB, Faggian G, Bernardi F, Martinelli N.J Am Heart Assoc. 2021 Feb;10(5):e018243.

doi: 10.1161/JAHA.120.018243.

Aptamer-modified FXa generation assays to investigate hypercoagulability in plasma from patients with ischemic heart disease. Baroni M, Martinelli N, Lunghi B, Marchetti G, Castagna A, Stefanoni F, Pinotti M, Woodhams B, Oliviero O, Bernardi F.

Thromb Res. 2020 Mar 14;189:140-146.

doi: 10.1016/j.thromres.2020.03.007.

The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII. Andersen E, Chollet ME, Baroni M, Pinotti M, Bernardi F, Skarpen E, Sandset PM, Skretting G.

Cell Biosci. 2019 Aug 27;9:69.

doi: 10.1186/s13578-019-0333-8.

Apolipoprotein C-III Strongly Correlates with Activated Factor VII-Anti-Thrombin Complex: An Additional Link between Plasma Lipids and Coagulation. Martinelli N, Baroni M, Castagna A, Lunghi B, Stefanoni F, Tosi F, Croce J, Udali S, Woodhams B, Girelli D, Bernardi F, Olivieri O.

Thromb Haemost. 2019 Feb;119(2):192-202

doi: 10.1055/s-0038-1676817

Activated factor VII-antithrombin complex predicts mortality in patients with stable coronary artery disease: a cohort study. Martinelli N, Girelli D, Baroni M, Guarini P, Sandri M, Lunghi B, Tosi F, Branchini A, Sartori F, Woodhams B, Bernardi F, Olivieri O.

J Thromb Haemost. 2016 Apr;14(4):655-66.

doi: 10.1111/jth.13274.

Asymmetric processing of mutant factor X Arg386Cys reveals differences between intrinsic and extrinsic pathway activation. Baroni M, Pavani G, Pinotti M, Branchini A, Bernardi F, Camire RM.

Biochim Biophys Acta. 2015 Oct;1854(10 Pt A):1351-6.

doi: 10.1016/j.bbapap.2015.05.012

Coagulation factor VII variants resistant to inhibitory antibodies. Branchini A, Baroni M, Pfeiffer C, Batorova A, Giansily-Blaizot M, Schved JF, Mariani G, Bernardi F1, Pinotti M.

Thromb Haemost. 2014 Nov;112(5):972-80.

doi: 10.1160/TH14-03-0198.

Factor II activity is similarly increased in patients with elevated apolipoprotein CIII and in carriers of the factor II 20210A allele. Olivieri O, Martinelli N, Baroni M, Branchini A, Girelli D, Friso S, Pizzolo F, Bernardi F.

J Am Heart Assoc. 2013 Nov 15;2(6):e000440.

doi: 10.1161/JAHA.113.000440.

Pubblicazioni:

Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts. Pignani S, Zappaterra F, Barbon E, Follenzi A, Bovolenta M, Bernardi F, Branchini A, Pinotti M.

Biochim Biophys Acta Gene Regul Mech. 2019 Jun;1862(6):619-624.

doi: 10.1016/j.bbagrm.2019.04.002.

An engineered TALE-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes. Barbon E, Pignani S, Branchini A, Bernardi F, Pinotti M, Bovolenta M.

Sci Rep. 2016 Jun 24;6:28304.

doi: 10.1038/srep28304.

Meccanismi del readthrough e modulazione

La presenza di un codone di stop prematuro (mutazione nonsenso) causa la sintesi di una proteina tronca con caratteristiche alterate. L'attività di ricerca è incentrata sullo studio del processo di readthrough, durante il quale il ribosoma introduce un aminoacido “by-passando” il codone di stop prematuro e portando alla sintesi di una proteina a lunghezza normale. Questi studi permettono di dettagliare i determinanti molecolari del readthrough, sia basale che indotto da farmaci.

Meccanismi del readthrough e modulazione -Leggi il resto

J Thromb Haemost. 2022 Aug;20(8):1818-1829.

doi: 10.1111/jth.15765.

The carboxyl-terminal region of coagulation serine proteases: A matter of cut and change. Branchini A.

J Thromb Haemost. 2021 Apr;19(4):917-919.

doi: 10.1111/jth.15237.

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

Thromb Res. 2020 Mar;187:88-90.

doi: 10.1016/j.thromres.2020.01.016.

Spostare articolo “The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII” presente nella sezione “Fattori della coagulazione, apolipoproteine e rischio cardiovascolare” a questa nuova sezione.

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.

J Thromb Haemost. 2018 Oct;16(10):2035-2043.

doi: 10.1111/jth.14236.

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity. Donadon I, McVey JH, Garagiola I, Branchini A, Mortarino M, Peyvandi F, Bernardi F, Pinotti M.

Haematologica. 2018 Feb;103(2):344-350.

doi: 10.3324/haematol.2017.178327.

The carboxyl-terminal region is NOT essential for secreted and functional levels of coagulation factor X. Branchini A, Baroni M, Burini F, Puzzo F, Nicolosi F, Mari R, Gemmati D, Bernardi F, Pinotti M.

J Thromb Haemost. 2015 Aug;13(8):1468-74.

doi: 10.1111/jth.13034.

Asymmetric processing of mutant factor X Arg386Cys reveals differences between intrinsic and extrinsic pathway activation. Baroni M, Pavani G, Pinotti M, Branchini A, Bernardi F, Camire RM.

Biochim Biophys Acta. 2015 Oct;1854(10 Pt A):1351-6.

doi: 10.1016/j.bbapap.2015.05.012.

Coagulation factor VII variants resistant to inhibitory antibodies. Branchini A, Baroni M, Pfeiffer C, Batorova A, Giansily-Blaizot M, Schved JF, Mariani G, Bernardi F, Pinotti M.

Thromb Haemost. 2014 Nov;112(5):972-80.

doi: 10.1160/TH14-03-0198.

Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity. Branchini A, Campioni M, Mazzucconi MG, Biondo F, Mari R, Bicocchi MP, Bernardi F, Pinotti M.

FEBS Lett. 2013 Oct 1;587(19):3249-53.

doi: 10.1016/j.febslet.2013.08.019.

Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency. Branchini A, Rizzotto L, Mariani G, Napolitano M, Lapecorella M, Giansily-Blaizot M, Mari R, Canella A, Pinotti M, Bernardi F.

Haematologica. 2012 May;97(5):705-9.

doi: 10.3324/haematol.2011.049403.

Characterization of the intracellular signalling capacity of natural FXa mutants with reduced pro-coagulant activity. Monti M, Borensztajn KS, Pinotti M, Canella A, Branchini A, Marchetti G, Reitsma PH, Bernardi F, Spek CA.

Thromb Res. 2009 Apr;123(6):914-8.

doi: 10.1016/j.thromres.2008.10.012.

Adv Protein Chem Struct Biol. 2022.

doi: 10.1016/bs.apcsb.2022.06.001. Epub ahead of print.

Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches. Lombardi S, Testa MF, Pinotti M, Branchini A.

Int J Mol Sci. 2020 Dec 11;21(24):9449.

doi: 10.3390/ijms21249449.

Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies. Balestra D, Branchini A.

Int J Mol Sci. 2019 Jun 21;20(12):3036.

doi: 10.3390/ijms20123036.

Pubblicazioni:

Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity. Lombardi S, Aaen KH, Nilsen J, Ferrarese M, Gjølberg TT, Bernardi F, Pinotti M, Andersen JT, Branchini A.

Br J Haematol. 2021 Jul;194(2):453-462.

doi: 10.1111/bjh.17559.

An engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics. Bern M, Nilsen J, Ferrarese M, Sand KMK, Gjølberg TT, Lode HE, Davidson RJ, Camire RM, Bækkevold ES, Foss S, Grevys A, Dalhus B, Wilson J, Høydahl LS, Christianson GJ, Roopenian DC, Schlothauer T, Michaelsen TE, Moe MC, Lombardi S, Pinotti M, Sandlie I, Branchini A, Andersen JT.

Sci Transl Med. 2020 Oct 14;12(565):eabb0580.

doi: 10.1126/scitranslmed.abb0580.

The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies. Ferrarese M, Pignani S, Lombardi S, Balestra D, Bernardi F, Pinotti M, Branchini A.

Thromb Res. 2019 Jan;173:4-11

doi: 10.1016/j.thromres.2018.11.007

Pubblicazioni:

Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants. Lombardi S, Ferrarese M, Marchi S, Pinton P, Pinotti M, Bernardi F, Branchini A.

RNA Biol.2020 Feb;17(2):254-263.

doi: 10.1080/15476286.2019.1676115

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.

Haemophilia. 2019 Jul;25(4):685-692.

doi: 10.1111/hae.13761.

Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B. Ferrarese M, Testa MF, Balestra D, Bernardi F, Pinotti M, Branchini A.
Hum Mutat. 2018 May;39(5):702-708.

doi: 10.1002/humu.23404

Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations. Branchini A, Ferrarese M, Campioni M, Castaman G, Mari R, Bernardi F, Pinotti M.
Blood. 2017 Apr 20;129(16):2303-2307.

doi: 10.1182/blood-2016-09-738641

Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency. Branchini A, Ferrarese M, Lombardi S, Mari R, Bernardi F, Pinotti M.

J Thromb Haemost. 2016 Oct;14(10):1994-2000.

doi: 10.1111/jth.13443

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