A double-hit in vivo model of GBA1 viral microRNA-mediated downregulation and human alpha-synuclein overexpression demonstrates nigrostriatal degeneration

Autor: Pablo Sardi S, Alexia Polissidis, Nikatou M, Nikolopoulou G, Koronaiou E, K. Vekrellis, Boyongo M, Maria Xilouri, Leonidas Stefanis, Viel C

Preclinical and clinical studies support a strong association between mutations in the GBA1 gene that encodes β-glucocerebrosidase (GCase) (EC 3.2.1.45; glucosylceramidase beta) and Parkinson’s disease (PD). Alpha-synuclein (AS), a key player in P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0ce076a0f939294ed83a42a2b8780bd8
https://doi.org/10.1101/2021.06.23.449545

Glucosylceramide synthase inhibition reduces α-synuclein pathology and improves cognition in murine models of synucleinopathy

Autor: Pablo Sardi, S., Viel, Catherine, Clarke, Jennifer, Treleaven, Christopher, Park, Hyejung, Dodge, James, Marshall, John, Cromwell, Mandy, Leonard, John, Wang, Bing, Cheng, Seng H., Shihabuddin, Lamya

Publikováno v: In Molecular Genetics and Metabolism February 2016 117(2):S102-S102

A sensitive method for determining UDP-glucose: ceramide glucosyltransferase (UGCG) activity in biological samples using deuterated glucosylceramide as acceptor substrate.

Autor: Cas MD; Department of Health Sciences, San Paolo Hospital, Università degli Studi di Milano, 20142 Milano, Italy., Casati S; Department of Biomedical, Surgical and Dental Sciences, Università degli Studi di Milano, 20133 Milan, Italy., Roda G; Department of Pharmaceutical Sciences, Università degli Studi di Milano, 20133 Milan, Italy., Pablo Sardi S; Rare and Neurologic Diseases Research, Sanofi, 350 Water St., Cambridge MA 02141, USA., Paroni R; Department of Health Sciences, San Paolo Hospital, Università degli Studi di Milano, 20142 Milano, Italy., di Fonzo A; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milan, Italy.; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, 20122 Milan, Italy., Trinchera M; Department of Medicine and Surgery (DMC), University of Insubria, 21100 Varese, Italy.

Publikováno v: Glycobiology [Glycobiology] 2023 Mar 06; Vol. 33 (2), pp. 88-94.