Enrico Cappelli

Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia.

Authors:

Roberta Bottega Silvia Ravera Luisa M R Napolitano Viviana Chiappetta Nicoletta Zini Barbara Crescenzi Silvia Arniani Michela Faleschini Giuseppe Cortone Flavio Faletra Barbara Medagli Fabio Sirchia Martina Moretti Job de Lange Enrico Cappelli Cristina Mecucci Silvia Onesti Francesca M Pisani Anna Savoia

J Cell Physiol 2021 Jan 11. Epub 2021 Jan 11.

Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy.

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January 2021

The passage from bone marrow niche to bloodstream triggers the metabolic impairment in Fanconi Anemia mononuclear cells.

Authors:

Enrico Cappelli Paolo Degan Silvia Bruno Filomena Pierri Maurizio Miano Federica Raggi Piero Farruggia Cristina Mecucci Barbara Crescenzi Valeria Naim Carlo Dufour Silvia Ravera

Redox Biol 2020 09 23;36:101618. Epub 2020 Jun 23.

Experimental Medicine Department, University of Genova, Genoa, Italy.

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September 2020

Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease.

Authors:

Maurizio Miano Annalisa Madeo Enrico Cappelli Federica Lanza Tiziana Lanza Marina Stroppiano Paola Terranova Roberta Venè Jack J H Bleesing Maja Di Rocco

J Allergy Clin Immunol Pract 2020 Nov - Dec;8(10):3535-3542. Epub 2020 Jul 21.

Unit of Rare Diseases, Department of Pediatrics, Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Giannina Gaslini, Genoa, Italy. Electronic address:

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July 2020

Unusual Late-onset Enteropathy in a Patient With Lipopolysaccharide-responsive Beige-like Anchor Protein Deficiency.

Authors:

Rosario Maggiore Alice Grossi Francesca Fioredda Elena Palmisani Paola Terranova Enrico Cappelli Tiziana Lanza Filomena Pierri Daniela Guardo Michaela Calvillo Concetta Micalizzi Andrea Beccaria Maria C Coccia Serena Arrigo Carlo Dufour Isabella Ceccherini Maurizio Miano

J Pediatr Hematol Oncol 2020 Nov;42(8):e768-e771

Haematology Unit.

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November 2020

Characterization of C2C12 cells in simulated microgravity: Possible use for myoblast regeneration.

Authors:

Daniela Calzia Laura Ottaggio Alessandro Cora Giorgia Chiappori Paola Cuccarolo Enrico Cappelli Alberto Izzotti Sara Tavella Paolo Degan

J Cell Physiol 2020 Apr 24;235(4):3508-3518. Epub 2019 Sep 24.

Mutagenesis and Preventive Oncology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.

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April 2020

FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene.

Br J Haematol 2019 11 15;187(4):502-508. Epub 2019 Jul 15.

Haematology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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November 2019

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

Authors:

Roberta Bottega Luisa M R Napolitano Anna Carbone Enrico Cappelli Fabio Corsolini Silvia Onesti Anna Savoia Paolo Gasparini Flavio Faletra

Mol Genet Genomic Med 2019 05 28;7(5):e639. Epub 2019 Mar 28.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.

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May 2019

A Global MicroRNA Profile in Fanconi Anemia: A Pilot Study.

Authors:

Paolo Degan Enrico Cappelli MariaGrazia Longobardi Alessandra Pulliero Paola Cuccarolo Carlo Dufour Silvia Ravera Daniela Calzia Alberto Izzotti

Metab Syndr Relat Disord 2019 02 30;17(1):53-59. Epub 2018 Oct 30.

1 Mutagenesis and Preventive Oncology, Ospedale Policlinico San Martino, Genova, Italy.

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February 2019

Aerobic metabolism dysfunction as one of the links between Fanconi anemia-deficient pathway and the aggressive cell invasion in head and neck cancer cells.

Authors:

Enrico Cappelli Paolo Degan Carlo Dufour Silvia Ravera

Oral Oncol 2018 12 21;87:210-211. Epub 2018 Oct 21.

Biochemistry Laboratory, Department of Pharmacy, University of Genova, 16132 Genova, Italy.

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December 2018

Sirolimus as a rescue therapy in children with immune thrombocytopenia refractory to mycophenolate mofetil.

Authors:

Maurizio Miano Gioacchino Andrea Rotulo Elena Palmisani Mariateresa Giaimo Francesca Fioredda Filomena Pierri Agnese Pezzulla Maria Licciardello Paola Terranova Tiziana Lanza Enrico Cappelli Rosario Maggiore Michaela Calvillo Concetta Micalizzi Giovanna Russo Carlo Dufour

Am J Hematol 2018 07 6;93(7):E175-E177. Epub 2018 May 6.

Hematology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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July 2018

Altered lipid metabolism could drive the bone marrow failure in fanconi anaemia.

Authors:

Silvia Ravera Paolo Degan Federica Sabatini Marta Columbaro Carlo Dufour Enrico Cappelli

Br J Haematol 2019 02 12;184(4):693-696. Epub 2018 Mar 12.

Haematology Unit, Istituto Giannina Gaslini, Genova, Italy.

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February 2019

Fanconi anemia: from DNA repair to metabolism.

Authors:

Silvia Ravera Carlo Dufour Paolo Degan Enrico Cappelli

Eur J Hum Genet 2018 04 2;26(4):475-476. Epub 2018 Feb 2.

Hematology Unit, Istituto Giannina Gaslini, Genova, Italy.

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April 2018

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.

Authors:

Roberta Bottega Elena Nicchia Enrico Cappelli Silvia Ravera Daniela De Rocco Michela Faleschini Fabio Corsolini Filomena Pierri Michaela Calvillo Giovanna Russo Gabriella Casazza Ugo Ramenghi Piero Farruggia Carlo Dufour Anna Savoia

Haematologica 2018 03 21;103(3):417-426. Epub 2017 Dec 21.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy

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March 2018

RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant.

Authors:

Emma Westermann-Clark Alice Grossi Francesca Fioredda Stefano Giardino Enrico Cappelli Paola Terranova Elena Palmisani Jocelyn R Farmer Zsofia Foldvari Yasuhiro Yamazaki Maura Faraci Edoardo Lanino Luigi D Notarangelo Carlo Dufour Isabella Ceccherini Jolan E Walter Maurizio Miano

Clin Immunol 2018 02 20;187:102-103. Epub 2017 Nov 20.

Hematology Unit, Istituto Giannina Gaslini, Genoa, Italy. Electronic address:

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February 2018

Concentration-dependent metabolic effects of metformin in healthy and Fanconi anemia lymphoblast cells.

Authors:

Silvia Ravera Vanessa Cossu Barbara Tappino Elena Nicchia Carlo Dufour Simona Cavani Andrea Sciutto Claudia Bolognesi Marta Columbaro Paolo Degan Enrico Cappelli

J Cell Physiol 2018 Feb 23;233(2):1736-1751. Epub 2017 Aug 23.

Hematology Unit, Istituto Giannina Gaslini, Genova, Italy.

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February 2018

Defects in mitochondrial energetic function compels Fanconi Anaemia cells to glycolytic metabolism.

Authors:

Enrico Cappelli Paola Cuccarolo Giorgia Stroppiana Maurizio Miano Roberta Bottega Vanessa Cossu Paolo Degan Silvia Ravera

Biochim Biophys Acta Mol Basis Dis 2017 06 14;1863(6):1214-1221. Epub 2017 Mar 14.

Laboratorio di Biochimica, Dipartimento di Farmacia, Università di Genova, Genova, Italy.

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June 2017

Why is an energy metabolic defect the common outcome in BMFS?

Authors:

Paolo Degan Silvia Ravera Enrico Cappelli

Cell Cycle 2016 Oct 11;15(19):2571-2575. Epub 2016 Aug 11.

c Hematology Unit, Istituto Giannina Gaslini , Genova , Italy.

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October 2016

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome.

Authors:

Silvia Ravera Carlo Dufour Simone Cesaro Roberta Bottega Michela Faleschini Paola Cuccarolo Fabio Corsolini Cesare Usai Marta Columbaro Marco Cipolli Anna Savoia Paolo Degan Enrico Cappelli

Sci Rep 2016 05 5;6:25441. Epub 2016 May 5.

Haematology Unit, Istituto Giannina Gaslini, 16148 Genova, Italy.

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May 2016

Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology-Oncology).

Am J Hematol 2016 07 24;91(7):666-71. Epub 2016 Apr 24.

Hematology Unit, Gaslini Institute, Genova, Italy.

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July 2016

Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.

Authors:

Elena Nicchia Chiara Greco Daniela De Rocco Vanna Pecile Angela D'Eustacchio Enrico Cappelli Paola Corti Nicoletta Marra Ugo Ramenghi Marta Pillon Piero Farruggia Carlo Dufour Alberto Pallavicini Lucio Torelli Anna Savoia

Mol Genet Genomic Med 2015 Nov 2;3(6):500-12. Epub 2015 Jul 2.

Department of Medical SciencesUniversity of TriesteTriesteItaly; Institute for Maternal and Child Health - IRCCS Burlo GarofoloTriesteItaly.

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November 2015

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