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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: nobbio l. 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.
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.
Veneri FA, Prada V, Mastrangelo R, Ferri C, Nobbio L, Passalacqua M, Milanesi M, Bianchi F, Del Carro U, Vallat JM, Duong P, Svaren J, Schenone A, Grandis M, D'Antonio M. Veneri FA, et al. Among authors: nobbio l. Hum Mol Genet. 2022 Dec 16;31(24):4255-4274. doi: 10.1093/hmg/ddac170. Hum Mol Genet. 2022. PMID: 35908287 Free PMC article.
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Fiorillo C, Capodivento G, Geroldi A, Tozza S, Moroni I, Mohassel P, Cataldi M, Campana C, Morando S, Panicucci C, Pedemonte M, Brolatti N, Siliquini S, Traverso M, Baratto S, Debellis D, Magri S, Prada V, Bellone E, Salpietro V, Donkervoort S, Gable K, Gupta SD, Dunn TM, Bönnemann CG, Taroni F, Bruno C, Schenone A, Mandich P, Nobbio L, Nolano M. Fiorillo C, et al. Among authors: nobbio l. Neuropathol Appl Neurobiol. 2022 Dec;48(7):e12842. doi: 10.1111/nan.12842. Epub 2022 Aug 10. Neuropathol Appl Neurobiol. 2022. PMID: 35904184 Free PMC article.
Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
Gemelli C, Geroldi A, Massucco S, Trevisan L, Callegari I, Marinelli L, Ursino G, Hamedani M, Mennella G, Stara S, Maggi G, Mori L, Schenone C, Gotta F, Patrone S, Mammi A, Origone P, Prada V, Nobbio L, Mandich P, Schenone A, Bellone E, Grandis M. Gemelli C, et al. Among authors: nobbio l. Life (Basel). 2022 Mar 10;12(3):402. doi: 10.3390/life12030402. Life (Basel). 2022. PMID: 35330153 Free PMC article.
CSF sphingomyelin: a new biomarker of demyelination in the diagnosis and management of CIDP and GBS.
Capodivento G, De Michelis C, Carpo M, Fancellu R, Schirinzi E, Severi D, Visigalli D, Franciotta D, Manganelli F, Siciliano G, Beronio A, Capello E, Lanteri P, Nobile-Orazio E, Schenone A, Benedetti L, Nobbio L. Capodivento G, et al. Among authors: nobbio l. J Neurol Neurosurg Psychiatry. 2021 Mar;92(3):303-310. doi: 10.1136/jnnp-2020-324445. Epub 2020 Oct 22. J Neurol Neurosurg Psychiatry. 2021. PMID: 33093191 Free PMC article.
Exploiting Sphingo- and Glycerophospholipid Impairment to Select Effective Drugs and Biomarkers for CMT1A.
Visigalli D, Capodivento G, Basit A, Fernández R, Hamid Z, Pencová B, Gemelli C, Marubbi D, Pastorino C, Luoma AM, Riekel C, Kirschner DA, Schenone A, Fernández JA, Armirotti A, Nobbio L. Visigalli D, et al. Among authors: nobbio l. Front Neurol. 2020 Aug 25;11:903. doi: 10.3389/fneur.2020.00903. eCollection 2020. Front Neurol. 2020. PMID: 32982928 Free PMC article.
46 results