R
Rosa Carbone
Researcher at University of Naples Federico II
Publications - 7
Citations - 213
Rosa Carbone is an academic researcher from University of Naples Federico II. The author has contributed to research in topics: CYP7B1 & Mutation frequency. The author has an hindex of 5, co-authored 7 publications receiving 178 citations.
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Journal ArticleDOI
Cholestenoic acids regulate motor neuron survival via liver X receptors
Spyridon Theofilopoulos,William J. Griffiths,Peter J. Crick,Shanzheng Yang,Anna Meljon,Michael Ogundare,Satish Srinivas Kitambi,Andrew Lockhart,Karin Tuschl,Peter E. Clayton,Andrew A. M. Morris,Adelaida Martinez,M. Ashwin Reddy,Andrea Martinuzzi,Maria Teresa Bassi,Akira Honda,Tatsuki Mizuochi,Akihiko Kimura,Hiroshi Nittono,Giuseppe De Michele,Rosa Carbone,Chiara Criscuolo,Joyce L.W. Yau,Jonathan R. Seckl,Rebecca Schüle,Ludger Schöls,Andreas W. Sailer,Jens Kuhle,Matthew J. Fraidakis,Jan-Ake Gustafsson,Knut R. Steffensen,Ingemar Björkhem,Patrik Ernfors,Jan Sjövall,Ernest Arenas,Yuqin Wang +35 more
TL;DR: The results indicate that specific cholestenoic acids selectively work on motor neurons, via LXR, to regulate the balance between survival and death.
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A randomized clinical trial of lithium in multiple system atrophy
Francesco Saccà,Angela Marsili,Mario Quarantelli,Vincenzo Brescia Morra,Arturo Brunetti,Rosa Carbone,Chiara Pane,Giorgia Puorro,Cinzia Valeria Russo,Elena Salvatore,Tecla Tucci,Giuseppe De Michele,Alessandro Filla +12 more
TL;DR: Overall, lithium was not well tolerated, and the trial was stopped by the Data Monitoring Committee, and future studies with lithium in MSA patients are discouraged.
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Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Chiara Criscuolo,Claudio Procaccini,Maria Chiara Meschini,Alessandra Cianflone,Rosa Carbone,Stefano Doccini,David Devos,Claudia Nesti,Isabelle Vuillaume,M. Pellegrino,A. Filla,G. De Michele,Giuseppe Matarese,Filippo M. Santorelli +13 more
TL;DR: The results suggest that loss of sacsin is associated with oxidative stress and mitochondrial dysfunction, and thus highlight a novel mechanism in the pathogenesis of ARSACS.
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Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study
Chiara Criscuolo,Alessandro Filla,Giovanni Coppola,Carlo Rinaldi,Rosa Carbone,Stefano Pinto,Q. Wang,Maria Fulvia de Leva,Elena Salvatore,Sandro Banfi,Arturo Brunetti,Mario Quarantelli,Daniel H. Geschwind,Sabina Pappatà,Giuseppe De Michele +14 more
TL;DR: The recessive character, the truncating nature of the mutations, and the reduced peripheral blood CYP7B1 mRNA levels suggest that the development of the disease is associated with a loss of function.
Journal ArticleDOI
Genetic screening for the LRRK2 R1441C and G2019S mutations in Parkinsonian patients from Campania.
Anna De Rosa,Giuseppe De Michele,Anna Guacci,Rosa Carbone,Maria Lieto,Silvio Peluso,Marina Picillo,Paolo Barone,Fabrizio Salemi,Antonio Laiso,Francesco Saccà,Alessandro Tessitore,Maria Teresa Pellecchia,Vincenzo Bonifati,Chiara Criscuolo +14 more
TL;DR: The R1441C and G2019S mutations are not rare causes of PD in Campania, especially in the province of Naples and among the familial cases, where the overall mutation prevalence is 6.8%.