M
Mirella Filocamo
Researcher at Istituto Giannina Gaslini
Publications - 177
Citations - 5574
Mirella Filocamo is an academic researcher from Istituto Giannina Gaslini. The author has contributed to research in topics: Gene & Missense mutation. The author has an hindex of 36, co-authored 177 publications receiving 4983 citations. Previous affiliations of Mirella Filocamo include University of Genoa & International Centre for Genetic Engineering and Biotechnology.
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Journal ArticleDOI
Germline mutations in HRAS proto-oncogene cause Costello syndrome
Yoko Aoki,Tetsuya Niihori,Hiroshi Kawame,Kenji Kurosawa,Hirofumi Ohashi,Yukichi Tanaka,Mirella Filocamo,Kumi Kato,Yoichi Suzuki,Shigeo Kure,Yoichi Matsubara +10 more
TL;DR: Four heterozygous de novo mutations of HRAS are identified in 12 of 13 affected individuals, suggesting that germline mutations in HRAS perturb human development and increase susceptibility to tumors.
Journal ArticleDOI
Lysosomal storage disorders: molecular basis and laboratory testing.
Mirella Filocamo,Amelia Morrone +1 more
TL;DR: BGT and MGT are mostly complementary for post- and prenatal diagnosis of LSDs, and whenever genotype/phenotype correlations are available, they can be helpful in predicting prognosis and in making decisions about therapy.
Journal ArticleDOI
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Anna Lisa E. Montalvo,Bruno Bembi,M. Donnarumma,Mirella Filocamo,Giancarlo Parenti,Miriam Rossi,Luciano Merlini,Emanuele Buratti,P. De Filippi,Andrea Dardis,Marina Stroppiano,Giovanni Ciana,Maria Gabriela Pittis +12 more
TL;DR: The complete molecular analysis of the GAA gene performed on 40 Italian patients with late onset GSDII is reported here, with particular emphasis on the subgroup carrying the c.‐32‐13T>G/c.2237G>A genotype.
Journal ArticleDOI
Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase.
TL;DR: It is shown that ambroxol increases both the lysosomal fraction and the enzymatic activity of several mutant GCase variants in skin fibroblasts derived from Type 1 and Type 2 GD patients.
Journal ArticleDOI
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
Anna Caciotti,Scott C. Garman,Yadilette Rivera-Colón,Elena Procopio,Serena Catarzi,Lorenzo Ferri,Carmen Guido,Paola Martelli,Rossella Parini,Daniela Antuzzi,Roberta Battini,Michela Sibilio,Alessandro Simonati,Elena Fontana,Alessandro Salviati,Gulcin Akinci,Cristina Cereda,Carlo Dionisi-Vici,Francesca Deodato,Adele D'Amico,Alessandra d'Azzo,Enrico Bertini,Mirella Filocamo,Maurizio Scarpa,Maja Di Rocco,Cynthia J. Tifft,Federica Ciani,Serena Gasperini,Elisabetta Pasquini,Renzo Guerrini,Maria Alice Donati,Amelia Morrone +31 more
TL;DR: A critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease is undertaken, which shows 27 mutations, 9 of which are new: 5 missense, 3 microdeletions and a nonsense mutation and four new genetic variants with a predicted polymorphic nature are identified.