Publications

  • Lunghi B, Morfini M, Martinelli N, Branchini A, Linari S, Castaman G, Bernardi F. Modulation of factor VIII pharmacokinetics by genetic components in factor VIII receptors. Haemophilia. 2023 Mar;29(2):479-487.
  • Testa MF, Lombardi S, Bernardi F, Ferrarese M, Belvini D, Radossi P, Castaman G, Pinotti M, Branchini A. Translational readthrough at F8 nonsense variants in factor VIII B domain contributes to residual expression and lowers inhibitor association. Haematologica. 2023 Feb 1;108(2):472-482.
  • Lombardi S, Testa MF, Pinotti M, Branchini A. Translation termination codons in protein synthesis and disease. Adv Protein Chem Struct Biol. 2022 Sep;132:1-48.
  • Sacco M, Lancellotti S, Branchini A, Tardugno M, Testa MF, Lunghi B, Bernardi F, Pinotti M, Giusti B, Castaman G, De Cristofaro R. The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: clinical phenotype and pathogenic mechanisms. J Thromb Haemost. 2022 Aug;20(8):1818-1829..
  • Branchini A, Morfini M, Lunghi B, Belvini D, Radossi P, Bury L, Serino ML, Giordano P, Cultrera D, Molinari AC, Napolitano M, Bigagli E, Castaman G, Pinotti M, Bernardi F; GePKHIS Study Group of AICE. F9 Missense mutations impairing factor ix activation are associated with pleiotropic plasma phenotypes. J Thromb Haemost. 2022 Jan;20(1):69-81.
  • Lunghi B, Morfini M, Martinelli N, Balestra D, Linari S, Frusconi S, Branchini A, Cervellera C, Marchetti G, Castaman G, Bernardi F. The asialoglycoprotein receptor minor subunit gene (ASGR2) contributes to pharmacokinetics of factor VIII concentrates in Hemophilia A. Thromb Haemost. 2021 Aug 18. doi: 10.1055/a-1591-7869. Epub ahead of print.
  • Lombardi S, Aaen KH, Nilsen J, Ferrarese M, Gjølberg TT, Bernardi F, Pinotti M, Andersen JT, Branchini A. Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity. Br J Haematol. 2021 Jul;194(2):453-462.
  • Branchini A. The carboxyl-terminal region of coagulation serine proteases: A matter of cut and change. J Thromb Haemost. 2021 Apr;19(4):917-919.
  • Lombardi S, Testa MF, Pinotti M, Branchini A. Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches. Int J Mol Sci. 2020 Dec 11;21(24):E9449.
  • Balestra D, Ferrarese M, Lombardi S, Ziliotto N, Branchini A, Petersen N, Bosma P, Pinotti M, van de Graaf SFJ. An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency. Int J Mol Sci. 2020 Nov 19;21(22):E8735.
  • 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. An engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics. Sci Transl Med. 2020 Oct 14;12(565):eabb0580. *Corresponding author.
  • Ziliotto N, Meneghetti S, Menegatti E, Baroni M, Lunghi B, Salvi F, Ferracin M, Branchini A, Gemmati D, Mascoli F, Zamboni P, Bernardi F, Marchetti G. Expression profiles of the internal jugular and saphenous veins: Focus on hemostasis genes. Thromb Res. 2020 Jul;191:113-124.
  • Branchini A, Pinotti M. A recoded view on the F9 p.Cys178Ter pathogenic mechanism. Thromb Res. 2020 Mar;187:88-90.
  • Lombardi S, Ferrarese M, Marchi S, Pinton P, Pinotti M, Bernardi F, Branchini A. Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants. RNA Biol. 2020 Feb;17(2):254-263.
  • Balestra D, Maestri I, Branchini A, Ferrarese M, Bernardi F, Pinotti M. An altered splicing registry explains the differential ExSpeU1-mediated rescue of splicing mutations causing haemophilia A. Front Genet. 2019 Oct 10;10:974.
  • Balestra D, Branchini A. Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies. Int J Mol Sci. 2019 Jun 21;20(12). pii: E3026.
  • Lunghi B, Bernardi F, Martinelli N, Frusconi S, Branchini A, Linari S, Marchetti G, Castaman G, Morfini M. Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates. J Thromb Haemost. 2019 Aug;17(8):1288-1296.
  • Pignani S, Zappaterra F, Barbon E, Follenzi A, Bovolenta M, Bernardi F, Branchini A*, Pinotti M. Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts. Biochim Biophys Acta Gene Regul Mech. 2019 Jun;1862(6):619-624. *Corresponding author.
  • Ferrarese M, Baroni M, Della Valle P, Spiga I, Poloniato A, D'Angelo A, Pinotti M, Bernardi F, Branchini A. Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition. Haemophilia. 2019 Jul;25(4):685-692.
  • 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. Akt-mediated phosphorylation of MICU1 regulates mitochondrial Ca(2+) levels and tumor growth. EMBO J. 2019 Jan 15;38(2). pii: e99435.
  • Ferrarese M, Pignani S, Lombardi S, Balestra D, Bernardi F, Pinotti M, Branchini A. The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies. Thromb Res. 2019 Jan;173:4-11.
  • Scalet D, Maestri I, Branchini A, Bernardi F, Pinotti M, Balestra D. Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs. Hum Mutat. 2019 Jan;40(1):48-52.
  • Pignani S, Todaro A, Ferrarese M, Marchi S, Lombardi S, Balestra D, Pinton P, Bernardi F, Pinotti M, Branchini A. The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation. J Thromb Haemost. 2018 Oct;16(10):2035-2043.
  • Ferrerese M, Testa MF, Balestra D, Bernardi F, Pinotti M, Branchini A. Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B. Hum Mutat. 2018 May;39(5):702-708.
  • Donadon I, McVey JH, Garagiola I, Branchini A, Mortarino M, Peyvandi F, Bernardi F, Pinotti M. Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity. Haematologica. 2018 Feb;103(2):344-350.
  • Branchini A, Ferrarese M, Campioni M, Castaman G, Mari R, Bernardi F, Pinotti M. Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations. Blood. 2017 Apr 20;129(16):2303-2307.
  • Branchini A, Ferrarese M, Lombardi S, Mari R, Bernardi F, Pinotti M. Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency. J Thromb Haemost. 2016 Oct; 14(10):1994-2000.
  • Barbon E, Pignani S, Branchini A, Bernardi F, Pinotti M, Bovolenta M. An engineered tale-trascription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes. Sci Rep. 2016 Jun 24;6:28304.
  • Martinelli N, Girelli D, Baroni M, Guarini P, Sandri M, Lunghi B, Tosi F, Branchini A, Sartori F, Woodhams B, Bernardi F, Olivieri O. Activated factor VII-antithrombin complex predicts mortality in patients with stable coronary artery disease: a cohort study. J Thromb Haemost. 2016 Apr;14(4):655-66.
  • Caselli E, D'Accolti M, Vandini A, Lanzoni L, Camerada MT, Coccagna M, Branchini A, Antonioli P, Balboni PG, Di Luca D, Mazzacane S. Impact of a Probiotic-Based Cleaning Intervention on the Microbiota Ecosystem of the Hospital Surfaces: Focus on the Resistome Remodulation. PLoS One. 2016 Feb 17;11(2):e0148857.
  • Baroni M, Pavani G, Pinotti M, Branchini A, Bernardi F, Camire RM. Asymmetric processing of mutant factor X Arg386Cys reveals differences between intrinsic and extrinsic pathway activation. Biochim Biophys Acta. 2015 Oct;1854(10 PtA):1351-6.
  • Branchini A, Baroni M, Burini F, Puzzo F, Nicolosi F, Mari R, Gemmati D, Bernardi F, Pinotti M. The carboxyl-terminal region is NOT essential for secreted and functional levels of coagulation factor X. J Thromb Haemost. 2015 Aug;13(8):1468-74.
  • Branchini A, Baroni M, Pfeiffer C, Batorova A, Giansily-Blaizot M, Schved JF, Mariani G, Bernardi F, Pinotti M. Coagulation factor VII variants resistant to inhibitory antibodies. Thromb Haemost. 2014 Nov 3;112(5): 972-80.
  • Vandini A, Temmerman R, Frabetti A, Caselli E, Antonioli P, Balboni PG, Platano D, Branchini A, Mazzacane S. Hard surface biocontrol in hospitals using microbial-based cleaning products. PLoS One. 2014 Sep 26;9(9):e108598.
  • Olivieri O, Martinelli N, Baroni M, Branchini A, Girelli D, Friso S, Pizzolo F, Bernardi F. Factor II activity is similarly increased in patients with elevated apolipoprotein CIII and in carriers of the Factor II 20210A allele. J Am Heart Assoc. 2013 Nov 15;2(6):e000440.
  • Branchini A, Campioni M, Mazzucconi MG, Biondo F, Mari R, Bicocchi MP, Bernardi F, Pinotti M. Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity. FEBS Lett. 2013 Oct 1;587(19):3249-53.
  • Cavallari N, Balestra D, Branchini A, Maestri I, Chuamsunrit A, Sasanakul W, Mariani G, Pagani F, Bernardi F, Pinotti M. Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant. Biochim Biophys Acta. 2012 Jul;1822(7):1109-1113.
  • Branchini A, Rizzotto L, Mariani G, Napolitano M, Lapecorella M, Giansily-Blaizot M, Mari R, Canella A, Pinotti M, Bernardi F. Natural and engineered carboxy-terminal variants: decreased secretion and increased activity result in asymptomatic coagulation factor VII deficiency. Haematologica. 2012 May;97(5):705-9.
  • Pinotti M, Bertolucci C, Frigato E, Branchini A, Cavallari N, Baba K,Contreras-Alcantara S, Ehlen JC, Bernardi F, Paul KN, Tosini G. Chronic sleep deprivation markedly reduces coagulation factor VII expression. Haematologica. 2010 Aug;95(8):1429-32.
  • Monti M, Borensztajn KS, Pinotti M, Canella A, Branchini A, Marchetti G, Reitsma PH, Bernardi F, Spek CA. Characterization of the intracellular signalling capacity of natural FXa mutants with reduced pro-coagulant activity. Thromb Res. 2009 Apr;123(6):914-8.