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.
Papers
More filters
Journal ArticleDOI
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
Snježana Miočić,Mirella Filocamo,Silvia Dominissini,Anna Lisa E. Montalvo,Kristian Vlahoviček,Marta Deganuto,Raffaella Mazzotti,Roberta Cariati,Bruno Bembi,Maria Gabriela Pittis +9 more
TL;DR: The molecular analysis of the glucocerebrosidase gene (GBA) in 58 unrelated patients with GD type 1 was carried out, identifying five novel genetic alterations and a crossover involving the GBA gene and pseudogene between intron 5 and exon 7.
Journal ArticleDOI
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts
Susanna Lualdi,Maria Gabriela Pittis,Stefano Regis,Rossella Parini,Anna E. Allegri,Francesca Furlan,Bruno Bembi,Mirella Filocamo +7 more
TL;DR: The molecular characterisation of three MPS II patients with multiple aberrant transcripts due to three different point mutations emphasised the importance of cloning and sequencing independent transcripts to reveal less abundant, aberrant products, which often could not be detected by direct sequencing.
Journal ArticleDOI
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease
Francesco Caroli,Roberta Biancheri,Marco Seri,Andrea Rossi,A. Pessagno,Marianna Bugiani,Fabio Corsolini,Salvatore Savasta,Silvia Romano,C Antonelli,A Romano,Davide Pareyson,P Gambero,Graziella Uziel,Roberto Ravazzolo,Isabella Ceccherini,Mirella Filocamo +16 more
TL;DR: The sequence analysis detected six different single nucleotide polymorphic variants, including two previously unreported ones, spread throughout non‐coding regions (introns 2, 3, 5, 6, and 3′UTR) of the gene.
Journal ArticleDOI
Craniosynostosis: A rare complication of pycnodysostosis
Sara Osimani,Isabelle Husson,Sandrine Passemard,Monique Elmaleh,Laurence Perrin,Chloé Quélin,Isabelle Marey,Olivier Delalande,Mirella Filocamo,Alain Verloes +9 more
TL;DR: It is confirmed that intracranial hypertension represents a rare but life-threatening complication of pycnodysostosis, and strongly suggest including systematic examination of fundus oculi and monitoring of OFC in the systematic clinical follow-up of these patients.
Book ChapterDOI
Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.
TL;DR: In vitro characterized the pathogenic effect of 7 NPC1 missense mutations and showed that it is possible to correct the NPC cellular phenotype by increasing the amount of endogenous NPC1 mutated protein, suggesting that at least some NPC1 mutations might be potentially rescued by small molecules-based chaperone therapy.