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Your search keyword '"Mancini, Grazia M.S."' showing total 7 results
Start Over Author "Mancini, Grazia M.S." Journal human mutation
7 results on '"Mancini, Grazia M.S."'

1. Germline BRAF Mutations in Noonan, LEOPARD, and Cardiofaciocutaneous Syndromes: Molecular Diversity and Associated Phenotypic Spectrum

Author

Sarkozy, Anna, Carta, Claudio, Moretti, Sonia, Zampino, Giuseppe, Digilio, Maria C., Pantaleoni, Francesca, Scioletti, Anna Paola, Esposito, Giorgia, Cordeddu, Viviana, Lepri, Francesca, Petrangeli, Valentina, Dentici, Maria L., Mancini, Grazia M.S., Selicorni, Angelo, Rossi, Cesare, Mazzanti, Laura, Marino, Bruno, Ferrero, Giovanni B., Silengo, Margherita Cirillo, Memo, Luigi, Stanzial, Franco, Faravelli, Francesca, Stuppia, Liborio, Puxeddu, Efisio, Gelb, Bruce D., Dallapiccola, Bruno, and Tartaglia, Marco

Published
2009
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3. Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

Author

Saunier, Chloé, primary, Støve, Svein Isungset, additional, Popp, Bernt, additional, Gérard, Bénédicte, additional, Blenski, Marina, additional, AhMew, Nicholas, additional, Bie, Charlotte, additional, Goldenberg, Paula, additional, Isidor, Bertrand, additional, Keren, Boris, additional, Leheup, Bruno, additional, Lampert, Laetitia, additional, Mignot, Cyril, additional, Tezcan, Kamer, additional, Mancini, Grazia M.S., additional, Nava, Caroline, additional, Wasserstein, Melissa, additional, Bruel, Ange‐Line, additional, Thevenon, Julien, additional, Masurel, Alice, additional, Duffourd, Yannis, additional, Kuentz, Paul, additional, Huet, Frédéric, additional, Rivière, Jean‐Baptiste, additional, Slegtenhorst, Marjon, additional, Faivre, Laurence, additional, Piton, Amélie, additional, Reis, André, additional, Arnesen, Thomas, additional, Thauvin‐Robinet, Christel, additional, and Zweier, Christiane, additional

Published
2016
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4. GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Author

Sarkozy, Anna, primary, Carta, Claudio, additional, Moretti, Sonia, additional, Zampino, Giuseppe, additional, Digilio, Maria C., additional, Pantaleoni, Francesca, additional, Scioletti, Anna Paola, additional, Esposito, Giorgia, additional, Cordeddu, Viviana, additional, Lepri, Francesca, additional, Petrangeli, Valentina, additional, Dentici, Maria L., additional, Mancini, Grazia M.S., additional, Selicorni, Angelo, additional, Rossi, Cesare, additional, Mazzanti, Laura, additional, Marino, Bruno, additional, Ferrero, Giovanni B., additional, Silengo, Margherita Cirillo, additional, Memo, Luigi, additional, Stanzial, Franco, additional, Faravelli, Francesca, additional, Stuppia, Liborio, additional, Puxeddu, Efisio, additional, Gelb, Bruce D., additional, Dallapiccola, Bruno, additional, and Tartaglia, Marco, additional

Published
2009
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5. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants ofCOH1

Author

Seifert, Wenke, primary, Holder-Espinasse, Muriel, additional, Kühnisch, Jirko, additional, Kahrizi, Kimia, additional, Tzschach, Andreas, additional, Garshasbi, Masoud, additional, Najmabadi, Hossein, additional, Walter Kuss, Andreas, additional, Kress, Wolfram, additional, Laureys, Geneviève, additional, Loeys, Bart, additional, Brilstra, Eva, additional, Mancini, Grazia M.S., additional, Dollfus, Hélène, additional, Dahan, Karin, additional, Apse, Kira, additional, Christian Hennies, Hans, additional, and Horn, Denise, additional

Published
2008
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6. Molecular and functional analysis ofSUMF1 mutations in multiple sulfatase deficiency

Author

Cosma, Maria Pia, primary, Pepe, Stefano, additional, Parenti, Giancarlo, additional, Settembre, Carmine, additional, Annunziata, Ida, additional, Wade-Martins, Richard, additional, Domenico, Carmela Di, additional, Natale, Paola Di, additional, Mankad, Anuj, additional, Cox, Barbara, additional, Uziel, Graziella, additional, Mancini, Grazia M.S., additional, Zammarchi, Enrico, additional, Donati, Maria Alice, additional, Kleijer, Wim J., additional, Filocamo, Mirella, additional, Carrozzo, Romeo, additional, Carella, Massimo, additional, and Ballabio, Andrea, additional

Published
2004
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7. Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

Author

Cosma, Maria Pia, Pepe, Stefano, Parenti, Giancarlo, Settembre, Carmine, Annunziata, Ida, Wade-Martins, Richard, Domenico, Carmela Di, Natale, Paola Di, Mankad, Anuj, Cox, Barbara, Uziel, Graziella, Mancini, Grazia M.S., Zammarchi, Enrico, Donati, Maria Alice, Kleijer, Wim J., Filocamo, Mirella, Carrozzo, Romeo, Carella, Massimo, and Ballabio, Andrea

Abstract

Multiple sulfatase deficiency (MSD) is a rare disorder characterized by impaired activity of all known sulfatases. The gene mutated in this disease is SUMF1, which encodes a protein involved in a post-translational modification at the catalytic site of all sulfatases that is necessary for their function. SUMF1 strongly enhances the activity of sulfatases when coexpressed with sulfatase in Cos-7 cells. We performed a mutational analysis of SUMF1 in 20 MSD patients of different ethnic origin. The clinical presentation of these patients was variable, ranging from severe neonatal forms to mild phenotypes showing mild neurological involvement. A total of 22 SUMF1 mutations were identified, including missense, nonsense, microdeletion, and splicing mutations. We expressed all missense mutations in culture to study their ability to enhance the activity of sulfatases. Of the predicted amino acid changes, 11 (p.R349W, p.R224W, p.L20F, p.A348P, p.S155P, p.C218Y, p.N259I, p.A279V, p.R349Q, p.C336R, p.A177P) resulted in severely impaired sulfatase-enhancing activity. Two (p.R345C and p.P266L) showed a high residual activity on some, but not all, of the nine sulfatases tested, suggesting that some SUMF1 mutations may have variable effects on the activity of each sulfatase. This study compares, for the first time, clinical, biochemical, and molecular data in MSD patients. Our results show lack of a direct correlation between the type of molecular defect and the severity of phenotype. Hum Mutat 23:576-581, 2004. © 2004 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

Published
2004
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