S
Stefania Zampieri
Researcher at International Centre for Genetic Engineering and Biotechnology
Publications - 33
Citations - 932
Stefania Zampieri is an academic researcher from International Centre for Genetic Engineering and Biotechnology. The author has contributed to research in topics: Gene & NPC1. The author has an hindex of 17, co-authored 33 publications receiving 738 citations.
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Journal ArticleDOI
Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone
Stefania Zampieri,Synthia H. Mellon,Terry D. Butters,Marco Nevyjel,Douglas F. Covey,Bruno Bembi,Andrea Dardis +6 more
TL;DR: It is suggested that oxidative stress might contribute to the NPC disease and allopregnanolone might be beneficial in the treatment of the disease, at least in part, due to its ability to restore the intracellular redox state.
Journal ArticleDOI
Cerebrospinal fluid β‐glucocerebrosidase activity is reduced in parkinson's disease patients
Lucilla Parnetti,Silvia Paciotti,Paolo Eusebi,Andrea Dardis,Stefania Zampieri,Davide Chiasserini,Anna Tasegian,Nicola Tambasco,Bruno Bembi,Paolo Calabresi,Tommaso Beccari +10 more
TL;DR: The objectives of this study were to confirm whether there is reduced β‐glucocerebrosidase activity in the CSF of GBA1 mutation carrier and noncarrier PD patients and verify if other lysosomal enzymes show altered activity inThe CSF.
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SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
Stefania Zampieri,Mirella Filocamo,Annalisa Pianta,Susanna Lualdi,Laura Gort,Maria Jose Coll,Richard O. Sinnott,Tarekegn Geberhiwot,Bruno Bembi,Andrea Dardis +9 more
TL;DR: The information reviewed in this article, providing new insights into the genotype/phenotype correlation, is extremely valuable to facilitate diagnosis and genetic counseling of families affected by NPA/B.
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Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents
Andrea Dardis,Irene Zanin,Stefania Zampieri,Cristiana Stuani,Annalisa Pianta,Milena Romanello,Francisco E. Baralle,Bruno Bembi,Emanuele Buratti +8 more
TL;DR: It is demonstrated that resveratrol treatment resulted in a significant increase of normal spliced GAA mRNA, GAA protein content and activity in cells transfected with a mutant minigene and in fibroblasts from patients carrying the c-32-13T>G mutation.
Journal ArticleDOI
Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease.
Sonia Canterini,Jessica Dragotto,Andrea Dardis,Stefania Zampieri,Maria Egle De Stefano,Franco Mangia,Robert P. Erickson,Maria Teresa Fiorenza +7 more
TL;DR: The findings indicate that defective Shh signaling is responsible for abnormal morphogenesis of the cerebellum of Npc1-deficient mice and show, for the first time, that the formation of the primary cilium is altered in NPC1 disease.