A
Amelia Morrone
Researcher at University of Florence
Publications - 138
Citations - 3550
Amelia Morrone is an academic researcher from University of Florence. The author has contributed to research in topics: Gene & Medicine. The author has an hindex of 27, co-authored 126 publications receiving 2868 citations. Previous affiliations of Amelia Morrone include University of Pittsburgh & The Cyprus Institute of Neurology and Genetics.
Papers
More filters
Journal ArticleDOI
Senescence‐associated β‐galactosidase is lysosomal β‐galactosidase
Bo Yun Lee,Jung A. Han,Jun Sub Im,Amelia Morrone,Kimberly L. Johung,Edward C. Goodwin,Wim J. Kleijer,Daniel DiMaio,Eun Seong Hwang,Eun Seong Hwang +9 more
TL;DR: It is demonstrated here that SA‐β‐gal activity is expressed from GLB1, the gene encoding lysosomal β‐D‐galactosidase, the activity of which is typically measured at acidic pH 4.5.
Journal ArticleDOI
The enigmatic role of tafazzin in cardiolipin metabolism.
Riekelt H. Houtkooper,Marjolein Turkenburg,Bwee Tien Poll-The,Daniela Karall,Celia Pérez-Cerdá,Amelia Morrone,Sabrina Malvagia,Ronald J.A. Wanders,Willem Kulik,Frédéric M. Vaz +9 more
TL;DR: Transient expression of selected human tAFazzin variants in BTHS fibroblasts showed for the first time in a human cell system that tafazzin lacking exon5 indeed functions in cardiolipin remodeling.
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
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
Rna metabolism in myotonic dystrophy : patient muscle shows decreased insulin receptor rna and protein consistent with abnormal insulin resistance
TL;DR: The results reinforce the concept of a generalized RNA metabolism defect in myotonic dystrophy, and offer a possible molecular mechanism for the increased insulin resistance observed in many myOTonic dystrophy patients.