Stefania Petrini

Research Area for Multi-factorial Diseases, Obesity and Diabetes, Bambino Gesù Children's Research Hospital, IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), viale di San Paolo 15, 00146 Rome, Italy.

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October 2019

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.

Authors:

Marialetizia Motta Antonella Giancotti Gioia Mastromoro Balasubramanian Chandramouli Valentina Pinna Francesca Pantaleoni Niccolò Di Giosaffatte Stefania Petrini Tommaso Mazza Valentina D'Ambrosio Paolo Versacci Flavia Ventriglia Giovanni Chillemi Antonio Pizzuti Marco Tartaglia Alessandro De Luca

Hum Mutat 2019 08 6;40(8):1046-1056. Epub 2019 May 6.

Molecular Genetics Unit, Fondazione Casa Sollievo della Sofferenza, IRCCS, San Giovanni Rotondo, Italy.

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August 2019

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.

Hum Mutat 2019 05 9;40(5):601-618. Epub 2019 Mar 9.

Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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May 2019

PD-1 in human NK cells: evidence of cytoplasmic mRNA and protein expression.

Authors:

Francesca R Mariotti Stefania Petrini Tiziano Ingegnere Nicola Tumino Francesca Besi Francesca Scordamaglia Enrico Munari Silvia Pesce Emanuela Marcenaro Alessandro Moretta Paola Vacca Lorenzo Moretta

Oncoimmunology 2019;8(3):1557030. Epub 2018 Dec 25.

Department of Immunology, IRCSS Bambino Gesù Children's Hospital, Rome, Italy.

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December 2018

Dysregulated miR-155 and miR-125b Are Related to Impaired B-cell Responses in Down Syndrome.

Authors:

Chiara Farroni Emiliano Marasco Valentina Marcellini Ezio Giorda Diletta Valentini Stefania Petrini Valentina D'Oria Marco Pezzullo Simona Cascioli Marco Scarsella Alberto G Ugazio Giovanni C De Vincentiis Ola Grimsholm Rita Carsetti

Front Immunol 2018 20;9:2683. Epub 2018 Nov 20.

B cell Pathophysiology Unit, Immunology Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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October 2019

Exploiting novel tailored immunotherapies of type 1 diabetes: Short interfering RNA delivered by cationic liposomes enables efficient down-regulation of variant PTPN22 gene in T lymphocytes.

Authors:

Marsha Pellegrino Francesca Ceccacci Stefania Petrini Anita Scipioni Serena De Santis Marco Cappa Giovanna Mancini Alessandra Fierabracci

Nanomedicine 2019 06 12;18:371-379. Epub 2018 Nov 12.

Infectivology and Clinical Trials Research Area. Electronic address:

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June 2019

Choice of costimulatory domains and of cytokines determines CAR T-cell activity in neuroblastoma.

Authors:

Concetta Quintarelli Domenico Orlando Iolanda Boffa Marika Guercio Vinicia Assunta Polito Andrea Petretto Chiara Lavarello Matilde Sinibaldi Gerrit Weber Francesca Del Bufalo Ezio Giorda Marco Scarsella Stefania Petrini Daria Pagliara Franco Locatelli Biagio De Angelis Ignazio Caruana

Oncoimmunology 2018;7(6):e1433518. Epub 2018 Mar 15.

Department of Pediatric Hematology and Oncology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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March 2018

Spleen development is modulated by neonatal gut microbiota.

Authors:

M Manuela Rosado Alaitz Aranburu Marco Scarsella Simona Cascioli Ezio Giorda Federica Del Chierico Stefano Levi Mortera Eva Piano Mortari Stefania Petrini Lorenza Putignani Rita Carsetti

Immunol Lett 2018 07 30;199:1-15. Epub 2018 Apr 30.

B Cell Physiopathology Unit, Immunology Research Area, Bambino Gesù Children Hospital, Rome, Italy.

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July 2018

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

Authors:

Antonella Sferra Fabiana Fattori Teresa Rizza Elsabetta Flex Emanuele Bellacchio Alessandro Bruselles Stefania Petrini Serena Cecchetti Massimo Teson Fabrizia Restaldi Andrea Ciolfi Filippo M Santorelli Ginevra Zanni Sabina Barresi Claudia Castiglioni Marco Tartaglia Enrico Bertini

Hum Mol Genet 2018 06;27(11):1892-1904

Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.

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June 2018

Identifying the dynamics of actin and tubulin polymerization in iPSCs and in iPSC-derived neurons.

Authors:

Valentina Magliocca Stefania Petrini Tiziana Franchin Rossella Borghi Alessia Niceforo Zeinab Abbaszadeh Enrico Bertini Claudia Compagnucci

Oncotarget 2017 Dec 15;8(67):111096-111109. Epub 2017 Nov 15.

Department of Neuroscience, Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Bambino Gesủ Children's Research Hospital, IRCCS, Rome 00146, Italy.

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December 2017

Osteosarcoma-derived extracellular vesicles induce a tumor-like phenotype in normal recipient cells.

Authors:

Enrica Urciuoli Ezio Giorda Marco Scarsella Stefania Petrini Barbara Peruzzi

J Cell Physiol 2018 08 7;233(8):6158-6172. Epub 2018 Mar 7.

Multifactorial Diseases Unit-Research Laboratories, Bambino Gesù Children's Hospital, Rome, Italy.

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August 2018

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

Authors:

Adele D'Amico Fabiana Fattori Giorgio Tasca Stefania Petrini Francesca Gualandi Alessandro Bruselles Valentina D'Oria Margherita Verardo Rosalba Carrozzo Marcello Niceta Bjarne Udd Alessandra Ferlini Marco Tartaglia Enrico Bertini

Eur J Paediatr Neurol 2017 Nov 22;21(6):873-883. Epub 2017 Jul 22.

Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, Rome, Italy.

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November 2017

Src nuclear localization and its prognostic relevance in human osteosarcoma.

Authors:

Enrica Urciuoli Ilenia Coletta Emanuele Rizzuto Rita De Vito Stefania Petrini Valentina D'Oria Marco Pezzullo Giuseppe Maria Milano Raffaele Cozza Franco Locatelli Barbara Peruzzi

J Cell Physiol 2018 Feb 17;233(2):1658-1670. Epub 2017 Aug 17.

Research Laboratories, Bambino Gesù Children's Hospital, Rome, Italy.

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February 2018

Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging.

Authors:

Stefania Petrini Rossella Borghi Valentina D'Oria Fabrizia Restaldi Sandra Moreno Antonio Novelli Enrico Bertini Claudia Compagnucci

Aging (Albany NY) 2017 05;9(5):1453-1469

Department of Neuroscience, Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, 00146, Italy.

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May 2017

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.

Authors:

Sara Petrillo Laura Pelosi Fiorella Piemonte Lorena Travaglini Laura Forcina Michela Catteruccia Stefania Petrini Margherita Verardo Adele D'Amico Antonio Musarò Enrico Bertini

Hum Mol Genet 2017 07;26(14):2781-2790

Unit of Muscular and Neurodegenerative Diseases, Children's Hospital and Research Institute Bambino Gesú, 00146 Rome, Italy.

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July 2017

Use of short interfering RNA delivered by cationic liposomes to enable efficient down-regulation of PTPN22 gene in human T lymphocytes.

Authors:

Valentina Perri Marsha Pellegrino Francesca Ceccacci Anita Scipioni Stefania Petrini Elena Gianchecchi Anna Lo Russo Serena De Santis Giovanna Mancini Alessandra Fierabracci

PLoS One 2017 24;12(4):e0175784. Epub 2017 Apr 24.

Type 1 Diabetes Centre, Infectivology and Clinical Trials Area, Children's Hospital Bambino Gesù, Rome, Italy.

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September 2017

Cytoskeletal dynamics during in vitro neurogenesis of induced pluripotent stem cells (iPSCs).

Authors:

Claudia Compagnucci Emanuela Piermarini Antonella Sferra Rossella Borghi Alessia Niceforo Stefania Petrini Fiorella Piemonte Enrico Bertini

Mol Cell Neurosci 2016 12 15;77:113-124. Epub 2016 Oct 15.

Department of Neuroscience, Unit of Neuromuscular and Neurodegenerative Diseases, Children's Research Hospital Bambino Gesù, IRCCS, Rome 00146, Italy.

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December 2016

Cystinosin-LKG rescues cystine accumulation and decreases apoptosis rate in cystinotic proximal tubular epithelial cells.

Authors:

Anna Taranta Francesco Bellomo Stefania Petrini Elena Polishchuk Ester De Leo Laura Rita Rega Anna Pastore Roman Polishchuk Maria Antonietta De Matteis Francesco Emma

Pediatr Res 2017 01 22;81(1-1):113-119. Epub 2016 Sep 22.

Department of Nephrology and Urology, Division of Nephrology, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.

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January 2017

Histological effects of givinostat in boys with Duchenne muscular dystrophy.

Neuromuscul Disord 2016 10 11;26(10):643-649. Epub 2016 Jul 11.

Department of Paediatric Neurology, Catholic University, Rome, Italy.

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October 2016

Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia.

Authors:

Emanuela Piermarini Daniele Cartelli Anna Pastore Giulia Tozzi Claudia Compagnucci Ezio Giorda Jessica D'Amico Stefania Petrini Enrico Bertini Graziella Cappelletti Fiorella Piemonte

Hum Mol Genet 2016 10 11;25(19):4288-4301. Epub 2016 Aug 11.

Unit of Muscular and Neurodegenerative Diseases

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October 2016

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.

Authors:

Claudia Compagnucci Sabina Barresi Stefania Petrini Pierre Billuart Giorgia Piccini Pietro Chiurazzi Paolo Alfieri Enrico Bertini Ginevra Zanni

Stem Cells Transl Med 2016 Jul 9;5(7):860-9. Epub 2016 May 9.

Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Rome, Italy

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July 2016

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