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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. eCollection 2019.


Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy.

Balestra D, Giorgio D, Bizzotto M, Fazzari M, Ben Zeev B, Pinotti M, Landsberger N, Frasca A.

Int J Mol Sci. 2019 Aug 24;20(17). pii: E4130. doi: 10.3390/ijms20174130.


Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.

Ferraresi P, Balestra D, Guittard C, Buthiau D, Pan-Petesh B, Maestri I, Farah R, Pinotti M, Giansily-Blaizot M.

Haematologica. 2019 Jul 4. pii: haematol.2019.217539. doi: 10.3324/haematol.2019.217539. [Epub ahead of print]


Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA.

Donadon I, Bussani E, Riccardi F, Licastro D, Romano G, Pianigiani G, Pinotti M, Konstantinova P, Evers M, Lin S, Rüegg MA, Pagani F.

Nucleic Acids Res. 2019 Aug 22;47(14):7618-7632. doi: 10.1093/nar/gkz469.


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. Epub 2019 Apr 18.


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. Epub 2019 Apr 17.


Akt-mediated phosphorylation of MICU1 regulates mitochondrial Ca2+ 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.

EMBO J. 2019 Jan 15;38(2). pii: e99435. doi: 10.15252/embj.201899435. Epub 2018 Nov 30.


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. Epub 2018 Nov 9.


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. Epub 2018 Nov 19.


Fasting/Refeeding Cycles Prevent Myocardial Dysfunction and Morphology Damage in the Spontaneously Hypertensive Rats.

Pinotti MF, Matias AM, Sugizaki MM, Nascimento AFD, Pai MD, Leopoldo APL, Cicogna AC, Leopoldo AS.

Arq Bras Cardiol. 2018 Sep;111(3):400-409. doi: 10.5935/abc.20180152. Epub 2018 Aug 20. English, Portuguese.


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. Epub 2018 Aug 9.


Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.

Donadon I, Pinotti M, Rajkowska K, Pianigiani G, Barbon E, Morini E, Motaln H, Rogelj B, Mingozzi F, Slaugenhaupt SA, Pagani F.

Hum Mol Genet. 2018 Jul 15;27(14):2466-2476. doi: 10.1093/hmg/ddy151.


Activation of Endoplasmic Reticulum Stress and Unfolded Protein Response in Congenital Factor VII Deficiency.

Andersen E, Chollet ME, Myklebust CF, Pinotti M, Bernardi F, Chuansumrit A, Skarpen E, Sandset PM, Skretting G.

Thromb Haemost. 2018 Apr;118(4):664-675. doi: 10.1055/s-0038-1637690. Epub 2018 Apr 4.


Community-acquired methicillin-resistant Staphylococcus aureus infections: 10-years' experience in a children's hospital in the city of Rosario, Argentina.

Ensinck G, Ernst A, Lazarte G, Romagnoli A, Sguassero Y, Míguez N, López Papucci S, Aletti A, Chiossone A, Pigozzi F, Pinotti M, Cantador A.

Arch Argent Pediatr. 2018 Apr 1;116(2):119-125. doi: 10.5546/aap.2018.eng.119. English, Spanish.


The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.

Scalet D, Sacchetto C, Bernardi F, Pinotti M, van de Graaf SFJ, Balestra D.

J Hum Genet. 2018 May;63(5):683-686. doi: 10.1038/s10038-018-0427-x. Epub 2018 Mar 1.


Influence of light transmission through fiber posts: Quantitative analysis, microhardness, and on bond strength of a resin cement.

Alves Morgan LFDS, Pinotti MB, Ferreira FM, Gomes GM, Silva GC, Albuquerque RC, Moreira AN.

Indian J Dent Res. 2018 Jan-Feb;29(1):74-80. doi: 10.4103/ijdr.IJDR_792_16.


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. Epub 2018 Feb 17.


Factor VII deficiency: Unveiling the cellular and molecular mechanisms underlying three model alterations of the enzyme catalytic domain.

Chollet ME, Andersen E, Skarpen E, Myklebust CF, Koehler C, Morth JP, Chuansumrit A, Pinotti M, Bernardi F, Thiede B, Sandset PM, Skretting G.

Biochim Biophys Acta Mol Basis Dis. 2018 Mar;1864(3):660-667. doi: 10.1016/j.bbadis.2017.12.016. Epub 2017 Dec 12.


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. Epub 2017 Nov 23.


Treatment of a Large Traumatic Encephalocele with Titanium Mesh.

Canto AMD, Pinotti MM, Maciel FA, Todeschini AB, Aguiar GB, Freitas RR.

Craniomaxillofac Trauma Reconstr. 2017 Jun;10(2):145-150. doi: 10.1055/s-0036-1582452. Epub 2016 May 5.


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. Epub 2017 Feb 14.


Clinical evaluation of a low-cost robot for use in physiotherapy and gait training.

Volpini M, Bartenbach V, Pinotti M, Riener R.

J Rehabil Assist Technol Eng. 2017 Jan 1;4:2055668316688410. doi: 10.1177/2055668316688410. eCollection 2017 Jan-Dec.


Quantification and Analysis of Leaflet Flutter on Biological Prosthetic Cardiac Valves.

Avelar AHF, Canestri JA, Bim C, Silva MGM, Huebner R, Pinotti M.

Artif Organs. 2017 Sep;41(9):835-844. doi: 10.1111/aor.12856. Epub 2016 Dec 7.


Transposon-mediated Generation of Cellular and Mouse Models of Splicing Mutations to Assess the Efficacy of snRNA-based Therapeutics.

Barbon E, Ferrarese M, van Wittenberghe L, Sanatine P, Ronzitti G, Collaud F, Colella P, Pinotti M, Mingozzi F.

Mol Ther Nucleic Acids. 2016 Nov 29;5(11):e392. doi: 10.1038/mtna.2016.97.


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. Epub 2016 Sep 19.


An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.

Balestra D, Scalet D, Pagani F, Rogalska ME, Mari R, Bernardi F, Pinotti M.

Mol Ther Nucleic Acids. 2016 Oct 4;5(10):e370. doi: 10.1038/mtna.2016.77.


Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.

Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M.

Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):15-20. doi: 10.1016/j.bbadis.2016.09.011. Epub 2016 Sep 14.


Fo ATP synthase C subunit serum levels in patients with ST-segment Elevation Myocardial Infarction: Preliminary findings.

Campo G, Morciano G, Pavasini R, Bonora M, Sbano L, Biscaglia S, Bovolenta M, Pinotti M, Punzetti S, Rizzo P, Aquila G, Giorgi C, Ferrari R, Pinton P.

Int J Cardiol. 2016 Oct 15;221:993-7. doi: 10.1016/j.ijcard.2016.07.125. Epub 2016 Jul 9.


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.


Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function.

Tajnik M, Rogalska ME, Bussani E, Barbon E, Balestra D, Pinotti M, Pagani F.

PLoS Genet. 2016 May 26;12(5):e1006082. doi: 10.1371/journal.pgen.1006082. eCollection 2016 May.


Motivational Interviewing to Treat Overweight Children: 24-Month Follow-Up of a Randomized Controlled Trial.

Broccoli S, Davoli AM, Bonvicini L, Fabbri A, Ferrari E, Montagna G, Panza C, Pinotti M, Storani S, Tamelli M, Candela S, Bellocchio E, Giorgi Rossi P.

Pediatrics. 2016 Jan;137(1). doi: 10.1542/peds.2015-1979. Epub 2015 Dec 23.


Sodium alginate as a potential carrier in solid dispersion formulations to enhance dissolution rate and apparent water solubility of BCS II drugs.

Borba PAA, Pinotti M, de Campos CEM, Pezzini BR, Stulzer HK.

Carbohydr Polym. 2016 Feb 10;137:350-359. doi: 10.1016/j.carbpol.2015.10.070. Epub 2015 Oct 23.


Mcl-1 involvement in mitochondrial dynamics is associated with apoptotic cell death.

Morciano G, Giorgi C, Balestra D, Marchi S, Perrone D, Pinotti M, Pinton P.

Mol Biol Cell. 2016 Jan 1;27(1):20-34. doi: 10.1091/mbc.E15-01-0028. Epub 2015 Nov 4.


The effect of mechanical grinding on the formation, crystalline changes and dissolution behaviour of the inclusion complex of telmisartan and β-cyclodextrins.

Borba PA, Pinotti M, Andrade GR, da Costa NB Jr, Olchanheski Junior LR, Fernandes D, de Campos CE, Stulzer HK.

Carbohydr Polym. 2015 Nov 20;133:373-83. doi: 10.1016/j.carbpol.2015.06.098. Epub 2015 Jul 9.


Myocardial contractility impairment with racemic bupivacaine, non-racemic bupivacaine and ropivacaine. A comparative study.

Pinotti MF, Hepner A, Campos DH, Silva LM, Cicogna AC, Ganem EM.

Acta Cir Bras. 2015 Jul;30(7):484-90. doi: 10.1590/S0102-865020150070000006.


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. Epub 2015 Jul 14.


Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides.

Balestra D, Barbon E, Scalet D, Cavallari N, Perrone D, Zanibellato S, Bernardi F, Pinotti M.

Hum Mol Genet. 2015 Sep 1;24(17):4809-16. doi: 10.1093/hmg/ddv205. Epub 2015 Jun 10.


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. Epub 2015 May 23.


Factor XIII-A dynamics in acute myocardial infarction: a novel prognostic biomarker?

Gemmati D, Zeri G, Orioli E, Mari R, Moratelli S, Vigliano M, Marchesini J, Grossi ME, Pecoraro A, Cuneo A, Ferrari R, Pinotti M, Serino ML, Ansani L.

Thromb Haemost. 2015 Jul;114(1):123-32. doi: 10.1160/TH14-11-0952. Epub 2015 May 7.


Melanin protects Paracoccidioides brasiliensis from the effects of antimicrobial photodynamic inhibition and antifungal drugs.

Baltazar LM, Werneck SM, Soares BM, Ferreira MV, Souza DG, Pinotti M, Santos DA, Cisalpino PS.

Antimicrob Agents Chemother. 2015 Jul;59(7):4003-11. doi: 10.1128/AAC.04917-14. Epub 2015 Apr 20.


Photodynamic therapy efficiently controls dermatophytosis caused by Trichophyton rubrum in a murine model.

Baltazar LM, Werneck SM, Carneiro HC, Gouveia LF, de Paula TP, Byrro RM, Cunha Júnior AS, Soares BM, Ferreira MV, Souza DG, Pinotti M, Cisalpino PS, Santos DA.

Br J Dermatol. 2015 Mar;172(3):801-4. doi: 10.1111/bjd.13494. Epub 2015 Feb 8. No abstract available.


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. Epub 2014 Aug 7.


Effects of low-power light therapy on wound healing: LASER x LED.

Chaves ME, Araújo AR, Piancastelli AC, Pinotti M.

An Bras Dermatol. 2014 Jul-Aug;89(4):616-23. Review.


Pharmacokinetic properties of recombinant FVIIa in inherited FVII deficiency account for a large volume of distribution at steady state and a prolonged pharmacodynamic effect.

Morfini M, Batorova A, Mariani G, Auerswald G, Bernardi F, Di Minno G, Dolce A, Fede C, Giansily-Blaizot M, Ingerslev J, Martinowitz U, Napolitano M, Pinotti M, Schved JF; International FVII [IF7] and Seven Treatment Evaluation Registry [STER] Study Groups.

Thromb Haemost. 2014 Aug;112(2):424-5. doi: 10.1160/TH13-12-1045. Epub 2014 Apr 24. No abstract available.


An engineered U1 small nuclear RNA rescues splicing defective coagulation F7 gene expression in mice.

Balestra D, Faella A, Margaritis P, Cavallari N, Pagani F, Bernardi F, Arruda VR, Pinotti M.

J Thromb Haemost. 2014 Feb;12(2):177-85. doi: 10.1111/jth.12471.


The influence of dynamic orthosis training on upper extremity function after stroke: a pilot study.

de Araújo RC, Rocha DN, Pitangui AC, Pinotti M.

J Healthc Eng. 2014;5(1):55-66. doi: 10.1260/2040-2295.5.1.55.


Inhibitors to factor VII in congenital factor VII deficiency.

Batorova A, Mariani G, Kavakli K, de Saez AR, Caliskan U, Karimi M, Pinotti M, Napolitano M, Dolce A, Sørensen B, Ingerslev J; STER Study Group.

Haemophilia. 2014 Mar;20(2):e188-91. doi: 10.1111/hae.12376. No abstract available.


A computational model for dynamic analysis of the human gait.

Vimieiro C, Andrada E, Witte H, Pinotti M.

Comput Methods Biomech Biomed Engin. 2015;18(7):799-804. doi: 10.1080/10255842.2013.848859. Epub 2013 Oct 25.


Pediatrician-led motivational interviewing to treat overweight children: an RCT.

Davoli AM, Broccoli S, Bonvicini L, Fabbri A, Ferrari E, D'Angelo S, Di Buono A, Montagna G, Panza C, Pinotti M, Romani G, Storani S, Tamelli M, Candela S, Giorgi Rossi P.

Pediatrics. 2013 Nov;132(5):e1236-46. doi: 10.1542/peds.2013-1738. Epub 2013 Oct 21.


Cationic lipid nanosystems as carriers for nucleic acids.

Cortesi R, Campioni M, Ravani L, Drechsler M, Pinotti M, Esposito E.

N Biotechnol. 2014 Jan 25;31(1):44-54. doi: 10.1016/j.nbt.2013.10.001. Epub 2013 Oct 11.


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