Studio di meccanismi molecolari

An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B. Sacco M, Testa MF, Ferretti A*, Basso M, Lancellotti S, Tardugno M, Di Gennaro L, Concolino P, Minucci A, Spoliti C, Branchini A, De Cristofaro R.

J Thromb Haemost. 2024 Oct;22(10):2724-2738.

doi: 10.1016/j.jtha.2024.07.008.

The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms. Sacco M, Lancellotti S, Branchini A, Tardugno M, Testa MF, Lunghi B, Bernardi F, Pinotti M, Giusti B, Castaman G, De Cristofaro R.

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

doi: 10.1111/jth.15765.

F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes. 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.

J Thromb Haemost. 2022 Jan;20(1):69-81.

doi: 10.1111/jth.15552.

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.

An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency. Balestra D, Ferrarese M, Lombardi S, Ziliotto N, Branchini A, Petersen N, Bosma P, Pinotti M, van de Graaf SFJ.

Int J Mol Sci. 2020 Nov 19;21(22):8735.

doi: 10.3390/ijms21228735.

An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A. Balestra D1, Maestri I, Branchini A, Ferrarese M, Bernardi F, Pinotti M.

Front Genet. 2019 Oct 10;10:974.

doi: 10.3389/fgene.2019.00974

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.

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.

Hum Mutat. 2019 Jan;40(1):48-52.

doi: 10.1002/humu.23680

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.

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.

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.

Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant. Cavallari N, Balestra D, Branchini A, Maestri I, Chuamsunrit A, Sasanakul W, Mariani G, Pagani F, Bernardi F, Pinotti M.

Biochim Biophys Acta. 2012 Jul;1822(7):1109-13.

doi: 10.1016/j.bbadis.2012.03.001

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.