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Tezacaftor is a direct inhibitor of sphingolipid delta-4 desaturase enzyme (DEGS).
Ciobanu DZ, Liessi N, Tomati V, Capurro V, Bertozzi SM, Summa M, Bertorelli R, Loberto N, Dobi D, Aureli M, Nobbio L, Bandiera T, Pedemonte N, Bassi R, Armirotti A. Ciobanu DZ, et al. Among authors: aureli m. J Cyst Fibros. 2024 Nov;23(6):1167-1172. doi: 10.1016/j.jcf.2024.05.004. Epub 2024 May 24. J Cyst Fibros. 2024. PMID: 38789319 Free article.
iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis.
Schöndorf DC, Aureli M, McAllister FE, Hindley CJ, Mayer F, Schmid B, Sardi SP, Valsecchi M, Hoffmann S, Schwarz LK, Hedrich U, Berg D, Shihabuddin LS, Hu J, Pruszak J, Gygi SP, Sonnino S, Gasser T, Deleidi M. Schöndorf DC, et al. Among authors: aureli m. Nat Commun. 2014 Jun 6;5:4028. doi: 10.1038/ncomms5028. Nat Commun. 2014. PMID: 24905578 Free article.
The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD.
Straniero L, Asselta R, Bonvegna S, Rimoldi V, Melistaccio G, Soldà G, Aureli M, Della Porta M, Lucca U, Di Fonzo A, Zecchinelli A, Pezzoli G, Cilia R, Duga S. Straniero L, et al. Among authors: aureli m. Neurol Genet. 2020 Oct 20;6(6):e523. doi: 10.1212/NXG.0000000000000523. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33209983 Free PMC article.
Serum Antibodies to Glycans in Peripheral Neuropathies.
Sonnino S, Chiricozzi E, Ciampa MG, Mauri L, Prinetti A, Toffano G, Aureli M. Sonnino S, et al. Among authors: aureli m. Mol Neurobiol. 2017 Mar;54(2):1564-1567. doi: 10.1007/s12035-016-9775-8. Epub 2016 Feb 11. Mol Neurobiol. 2017. PMID: 26867654 Review.
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L, Rimoldi V, Monfrini E, Bonvegna S, Melistaccio G, Lake J, Soldà G, Aureli M, Shankaracharya, Keagle P, Foroud T, Landers JE, Blauwendraat C, Zecchinelli A, Cilia R, Di Fonzo A, Pezzoli G, Duga S, Asselta R. Straniero L, et al. Among authors: aureli m. Mov Disord. 2022 Jun;37(6):1202-1210. doi: 10.1002/mds.28987. Epub 2022 Mar 9. Mov Disord. 2022. PMID: 35262230 Free PMC article.
Lipid membrane domains in the brain.
Aureli M, Grassi S, Prioni S, Sonnino S, Prinetti A. Aureli M, et al. Biochim Biophys Acta. 2015 Aug;1851(8):1006-16. doi: 10.1016/j.bbalip.2015.02.001. Epub 2015 Feb 10. Biochim Biophys Acta. 2015. PMID: 25677824 Review.
LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson's disease.
Kedariti M, Frattini E, Baden P, Cogo S, Civiero L, Ziviani E, Zilio G, Bertoli F, Aureli M, Kaganovich A, Cookson MR, Stefanis L, Surface M, Deleidi M, Di Fonzo A, Alcalay RN, Rideout H, Greggio E, Plotegher N. Kedariti M, et al. Among authors: aureli m. NPJ Parkinsons Dis. 2022 Jul 19;8(1):92. doi: 10.1038/s41531-022-00354-3. NPJ Parkinsons Dis. 2022. PMID: 35853899 Free PMC article.
92 results