Zobrazeno 1 - 10
of 189
pro vyhledávání: '"Valentina Medici"'
Publikováno v:
Frontiers in Gastroenterology, Vol 3 (2024)
BackgroundWilson disease (WD) is a rare and potentially fatal genetic disorder caused by accumulation of toxic levels of copper. Current treatments include chelating agents and/or zinc. We characterized real-world US treatment patterns in patients wi
Externí odkaz:
https://doaj.org/article/9e13711345fe47a3be21442b88e9d97a
Publikováno v:
Frontiers in Gastroenterology, Vol 2 (2024)
IntroductionThere are limited data from the United States regarding the real-world signs and symptoms of Wilson disease (WD). This retrospective, observational medical chart review was conducted to identify real-world characteristics of patients with
Externí odkaz:
https://doaj.org/article/1fdf5400e80f4bf7819aa3c0c2c2cdc8
Publikováno v:
Magna Scientia UCEVA, Vol 3, Iss 1 (2023)
La EW es causada por las variantes de ATP7B que alteran el eflujo de cobre y provocan una acumulación excesiva de cobre, principalmente en el hígado y el cerebro. El diagnóstico de la EW se ve dificultado por su evolución clínica variable, su ap
Externí odkaz:
https://doaj.org/article/7806f284186c4509bb4b01e82fe7003a
Autor:
Bettina Hieronimus, Valentina Medici, Vivien Lee, Marinelle V. Nunez, Desiree M. Sigala, Andrew A. Bremer, Chad L. Cox, Nancy L. Keim, Jean-Marc Schwarz, Giovanni Pacini, Andrea Tura, Peter J. Havel, Kimber L. Stanhope
Publikováno v:
Nutrients, Vol 16, Iss 1, p 151 (2024)
(1) Background: Clinical results on the effects of excess sugar consumption on insulin sensitivity are conflicting, possibly due to differences in sugar type and the insulin sensitivity index (ISI) assessed. Therefore, we compared the effects of cons
Externí odkaz:
https://doaj.org/article/61c9cbb4b6d8413687a44614a434bdde
Autor:
Antonio Malvaso, Alberto Gatti, Giulia Negro, Chiara Calatozzolo, Valentina Medici, Tino Emanuele Poloni
Publikováno v:
Cells, Vol 12, Iss 24, p 2824 (2023)
The greatest risk factor for neurodegeneration is the aging of the multiple cell types of human CNS, among which microglia are important because they are the “sentinels” of internal and external perturbations and have long lifespans. We aim to em
Externí odkaz:
https://doaj.org/article/40819c91f41f4b4a881d622f6a1f61ac
Autor:
Antonio Chiariello, Sabrina Valente, Gianandrea Pasquinelli, Alessandra Baracca, Gianluca Sgarbi, Giancarlo Solaini, Valentina Medici, Valentina Fantini, Tino Emanuele Poloni, Monica Tognocchi, Marina Arcaro, Daniela Galimberti, Claudio Franceschi, Miriam Capri, Stefano Salvioli, Maria Conte
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2023)
IntroductionGrowth Differentiation Factor 15 (GDF15) is a mitochondrial-stress-responsive molecule whose expression strongly increases with aging and age-related diseases. However, its role in neurodegenerative diseases, including Alzheimer’s disea
Externí odkaz:
https://doaj.org/article/bf4c52ee105f4d32b51aac9d0b5a6de8
Publikováno v:
Neural Regeneration Research, Vol 17, Iss 12, Pp 2679-2681 (2022)
Externí odkaz:
https://doaj.org/article/16f741d89fea49b499880ad8912a44b1
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 293-294 (2022)
Externí odkaz:
https://doaj.org/article/ab5caa12b99a44fb813ec0eacacbef19
Autor:
Louis C. Penning, Marina Berenguer, Anna Czlonkowska, Kay L. Double, Petr Dusek, Carmen Espinós, Svetlana Lutsenko, Valentina Medici, Wiebke Papenthin, Wolfgang Stremmel, Jose Willemse, Ralf Weiskirchen
Publikováno v:
Biomedicines, Vol 11, Iss 2, p 420 (2023)
Wilson disease (WD) is a rare, inherited metabolic disorder manifested with varying clinical presentations including hepatic, neurological, psychiatric, and ophthalmological features, often in combination. Causative mutations in the ATP7B gene result
Externí odkaz:
https://doaj.org/article/acc995f2df7b45f3959c8fccf8a57327
Autor:
Gaurav V. Sarode, Kari Neier, Noreene M. Shibata, Yuanjun Shen, Dmitry A. Goncharov, Elena A. Goncharova, Tagreed A. Mazi, Nikhil Joshi, Matthew L. Settles, Janine M. LaSalle, Valentina Medici
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 12, Iss 4, Pp 1457-1477 (2021)
Background & Aims: The pathogenesis of Wilson disease (WD) involves hepatic and brain copper accumulation resulting from pathogenic variants affecting the ATP7B gene and downstream epigenetic and metabolic mechanisms. Prior methylome investigations i
Externí odkaz:
https://doaj.org/article/c5ffc517af1647e8b7ee2257791baec3