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Anna Caciotti
Researcher at Boston Children's Hospital
Publications - 41
Citations - 1053
Anna Caciotti is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: GLB1 & Gangliosidosis. The author has an hindex of 19, co-authored 36 publications receiving 893 citations. Previous affiliations of Anna Caciotti include University of Florence.
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Journal ArticleDOI
Fluctuation of bacteria isolated from elm tissues during different seasons and from different plant organs.
Stefano Mocali,Emanuela Bertelli,Francescopaolo Di Cello,Alessio Mengoni,A. Sfalanga,Francesca Viliani,Anna Caciotti,Stefania Tegli,Giuseppe Surico,Renato Fani +9 more
TL;DR: The fluctuations in the bacterial community, determined by different parameters (seasonal changes, plant organ, presence of phytoplasmas) were studied, revealing that they were influenced both by variations in temperature and by the organ examined (roots or stems).
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.
Journal ArticleDOI
Morquio A Syndrome-Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus-Specific Database
Amelia Morrone,Anna Caciotti,Robert Atwood,K. Davidson,Chaoyi Du,Patricia Francis-Lyon,Paul Harmatz,Matthew Mealiffe,Sean D. Mooney,Tal Ronnen Oron,April B. Ryles,Karl A Zawadzki,Nicole Miller +12 more
TL;DR: A locus‐specific database for the GAL NS gene is created that catalogs all reported alterations in GALNS to date and highlights the challenges both in alteration detection and genotype–phenotype interpretation caused in part by the heterogeneity of GALns alterations.
Journal ArticleDOI
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
Anna Caciotti,Maria Alice Donati,Avihu Boneh,Alessandra d'Azzo,Antonio Federico,Rossella Parini,Danielas Antuzzi,T Bardelli,Daniele Nosi,Virginia Kimonis,Enrico Zammarchi,Amelia Morrone +11 more
TL;DR: The presence of genetic lesions in both GLB1 and EBP coding region does not directly predict impaired elastogenesis and that elastic fiber assembly has to be evaluated specifically in each case, Nevertheless, the degree of EBP involvement may be linked to specific clinical findings.
Journal ArticleDOI
Functional studies of new gla gene mutations leading to conformational fabry disease
C. Filoni,Anna Caciotti,Laura Carraresi,Catia Cavicchi,Rossella Parini,Daniela Antuzzi,Anna Zampetti,Sandro Feriozzi,P. Poisetti,Scott C. Garman,Renzo Guerrini,Enrico Zammarchi,M.A. Donati,Amelia Morrone +13 more
TL;DR: The hypothesis that an active site-specific chemical chaperone, which could be administered orally, might be effective in treating GAL-A conformational defects is endorsed, paving the way for conformational FD.