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Paolo Vezzoni
Researcher at National Research Council
Publications - 179
Citations - 8603
Paolo Vezzoni is an academic researcher from National Research Council. The author has contributed to research in topics: Gene & Osteopetrosis. The author has an hindex of 46, co-authored 179 publications receiving 8035 citations. Previous affiliations of Paolo Vezzoni include Icahn School of Medicine at Mount Sinai & Humanitas University.
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Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.
Annalisa Frattini,Paul J. Orchard,Cristina Sobacchi,Silvia Giliani,Mario Abinun,Jan P. Mattsson,David J. Keeling,Ann Katrin Andersson,Pia Wallbrandt,Luigi Zecca,Luigi D. Notarangelo,Paolo Vezzoni,Anna Villa +12 more
TL;DR: It is shown that TCIRG1, encoding the osteoclast-specific 116-kD subunit of the vacuolar proton pump, is mutated in five of nine patients with a diagnosis of infantile malignant osteopetrosis, indicating that mutations in TC IRG1 are a frequent cause of autosomal recessive osteopeterosis in humans.
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Partial V(D)J Recombination Activity Leads to Omenn Syndrome
Anna Villa,Sandro Santagata,Fabio Bozzi,Silvia Giliani,Annalisa Frattini,Luisa Imberti,Luisa Benerini Gatta,Hans D. Ochs,Klaus Schwarz,Luigi D. Notarangelo,Paolo Vezzoni,Eugenia Spanopoulou +11 more
TL;DR: It is reported here that patients with Omenn syndrome, a severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T cells, hypereosinophilia, and high IgE levels, bear missense mutations in either the Rag-1 or Rag-2 genes that result in partial activity of the two proteins.
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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
Antonio Musio,Angelo Selicorni,Maria Luisa Focarelli,Cristina Gervasini,Donatella Milani,Silvia Russo,Paolo Vezzoni,Lidia Larizza +7 more
TL;DR: It is reported here that mutations in SMC1L1 (also known asSMC1), which encodes a different subunit of the cohesin complex, are responsible for CdLS in three male members of an affected family and in one sporadic case.
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Iron, neuromelanin and ferritin content in the substantia nigra of normal subjects at different ages: consequences for iron storage and neurodegenerative processes.
Luigi Zecca,Mario Gallorini,Volker Schünemann,Alfred X. Trautwein,Manfred Gerlach,Peter Riederer,Paolo Vezzoni,Davide Tampellini +7 more
TL;DR: It is concluded that neuromelanin is the major iron storage in substantia nigra neurones in normal individuals.
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Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
Cristina Sobacchi,Annalisa Frattini,Matteo M Guerrini,Mario Abinun,Alessandra Pangrazio,Lucia Susani,Robbert G. M. Bredius,Grazia M.S. Mancini,Andrew J. Cant,Nick Bishop,Peter Grabowski,Andrea Del Fattore,Chiara Messina,Gabriella Errigo,Fraser P. Coxon,Debbie I Scott,Anna Teti,Michael J. Rogers,Paolo Vezzoni,Anna Villa,Miep H. Helfrich +20 more
TL;DR: In this paper, the authors reported mutations in the gene encoding RANKL (receptor activator of nuclear factor-KB ligand) in six individuals with SRO whose bone biopsy specimens lacked osteoclasts.