M
Marcello Niceta
Researcher at Boston Children's Hospital
Publications - 80
Citations - 1521
Marcello Niceta is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Medicine & Exome sequencing. The author has an hindex of 19, co-authored 63 publications receiving 1093 citations. Previous affiliations of Marcello Niceta include Istituto Superiore di Sanità & National Institutes of Health.
Papers
More filters
Journal ArticleDOI
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
Michael T. Lam,Michael T. Lam,Simona Coppola,Oliver H.F. Krumbach,Giusi Prencipe,Antonella Insalaco,Cristina Cifaldi,Immacolata Brigida,Erika Zara,Serena Scala,Silvia Di Cesare,Simone Martinelli,Martina Di Rocco,Martina Di Rocco,Antonia Pascarella,Marcello Niceta,Francesca Pantaleoni,Andrea Ciolfi,Petra Netter,Alexandre F. Carisey,Alexandre F. Carisey,Michael R. Diehl,Mohammad Akbarzadeh,Francesca Conti,Pietro Merli,Anna Pastore,Stefano Levi Mortera,Serena Camerini,Luciapia Farina,Marcel Buchholzer,Luca Pannone,Tram N. Cao,Zeynep H. Coban-Akdemir,Zeynep H. Coban-Akdemir,Shalini N. Jhangiani,Donna M. Muzny,Richard A. Gibbs,Richard A. Gibbs,Luca Basso-Ricci,Maria Chiriaco,Radovan Dvorsky,Lorenza Putignani,Rita Carsetti,Petra Janning,Asbjørg Stray-Pedersen,Asbjørg Stray-Pedersen,Asbjørg Stray-Pedersen,Hans Christian Erichsen,AnnaCarin Horne,Yenan T. Bryceson,Yenan T. Bryceson,Lamberto Torralba-Raga,Kim Ramme,Vittorio Rosti,Claudia Bracaglia,Virginia Messia,Paolo Palma,Andrea Finocchi,Franco Locatelli,Ivan K. Chinn,James R. Lupski,Emily M. Mace,Caterina Cancrini,Alessandro Aiuti,Mohammad Reza Ahmadian,Jordan S. Orange,Jordan S. Orange,Fabrizio De Benedetti,Marco Tartaglia +68 more
TL;DR: In silico, in vitro, and in vivo analyses are used to correlate the molecular mechanisms altering CDC42 function to the observed phenotype and characterize a novel hematological/autoinflammatory disorder due to a de novo recurrent missense mutation of CDC42.
Journal ArticleDOI
Persistent episomal transgene expression in liver following delivery of a scaffold/matrix attachment region containing non-viral vector
Orestis Argyros,Suet-Ping Wong,Marcello Niceta,Simon N. Waddington,Steven J. Howe,Charles Coutelle,Andrew D. Miller,R P Harbottle,R P Harbottle +8 more
TL;DR: It is concluded that the combination of a mammalian, tissue-specific promoter with the S/MAR element is sufficient to drive long-term episomal pDNA expression of genes in vivo.
Journal ArticleDOI
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies
Marcello Niceta,Emilia Stellacci,Karen W. Gripp,Giuseppe Zampino,Maria Kousi,Massimiliano Anselmi,Alice Traversa,Alice Traversa,Andrea Ciolfi,Deborah L. Stabley,Alessandro Bruselles,Viviana Caputo,Serena Cecchetti,Sabrina Prudente,Maria Teresa Fiorenza,Carla Boitani,Nicole Philip,Dmitriy Niyazov,Chiara Leoni,Takaya Nakane,Kim M. Keppler-Noreuil,Stephen R. Braddock,Gabriele Gillessen-Kaesbach,Antonio Palleschi,Philippe M. Campeau,Brendan Lee,Celio Pouponnot,Lorenzo Stella,Gianfranco Bocchinfuso,Nicholas Katsanis,Katia Sol-Church,Marco Tartaglia +31 more
TL;DR: The findings nosologically and clinically delineate a previously poorly understood recognizable multisystem disorder, provide evidence for MAF governing a wider range of developmental programs than previously appreciated, and describe a novel instance of protein dosage effect severely perturbing development.
Journal ArticleDOI
A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome
Viviana Caputo,Luciano Cianetti,Marcello Niceta,Claudio Carta,Andrea Ciolfi,Gianfranco Bocchinfuso,Eugenio Carrani,Maria Lisa Dentici,Elisa Biamino,Elga Fabia Belligni,Livia Garavelli,Loredana Boccone,Daniela Melis,Generoso Andria,Bruce D. Gelb,Lorenzo Stella,Margherita Silengo,Bruno Dallapiccola,Marco Tartaglia +18 more
TL;DR: It is established that heterozygous mutations in SMAD4, which encodes for a transducer mediating transforming growth factor β and bone morphogenetic protein signaling branches, underlie this rare Mendelian trait Myhre syndrome.
Journal ArticleDOI
Development of S/MAR minicircles for enhanced and persistent transgene expression in the mouse liver
Orestis Argyros,Suet Ping Wong,Constantinos Fedonidis,Oleg Tolmachov,Simon N. Waddington,Steven J. Howe,Marcello Niceta,Charles Coutelle,Richard P. Harbottle +8 more
TL;DR: The development of a minimally sized S/MAR vector, which is devoid of extraneous bacterial sequences, providing higher and more sustained transgene expression for several months in the absence of selection, both in vitro and in vivo.