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Lysosomal positioning diseases: beyond substrate storage.
Scerra G, De Pasquale V, Scarcella M, Caporaso MG, Pavone LM, D'Agostino M. Scerra G, et al. Open Biol. 2022 Oct;12(10):220155. doi: 10.1098/rsob.220155. Epub 2022 Oct 26. Open Biol. 2022. PMID: 36285443 Free PMC article. Review.
N-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome.
De Pasquale V, Esposito A, Scerra G, Scarcella M, Ciampa M, Luongo A, D'Alonzo D, Guaragna A, D'Agostino M, Pavone LM. De Pasquale V, et al. J Med Chem. 2023 Feb 9;66(3):1790-1808. doi: 10.1021/acs.jmedchem.2c01617. Epub 2023 Jan 25. J Med Chem. 2023. PMID: 36696678 Free PMC article.
Methylmalonic acidemia triggers lysosomal-autophagy dysfunctions.
Costanzo M, Cevenini A, Kollipara L, Caterino M, Bianco S, Pirozzi F, Scerra G, D'Agostino M, Pavone LM, Sickmann A, Ruoppolo M. Costanzo M, et al. Among authors: d agostino m. Cell Biosci. 2024 May 17;14(1):63. doi: 10.1186/s13578-024-01245-1. Cell Biosci. 2024. PMID: 38760822 Free PMC article.
PSMC5 insufficiency and P320R mutation impair proteasome function.
Yu ZQ, Carmichael J, Collins GA, D'Agostino MD, Lessard M, Firth HV, Harijan P, Fry AE, Dean J, Zhang J, Kini U, Goldberg AL, Rubinsztein DC. Yu ZQ, et al. Among authors: d agostino md. Hum Mol Genet. 2024 May 22:ddae085. doi: 10.1093/hmg/ddae085. Online ahead of print. Hum Mol Genet. 2024. PMID: 38776958
677 results