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TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A, Krogsaeter EK, Jaślan D, Abrahamian C, Montefusco S, Soldati C, Spix B, Pizzo MT, Grieco G, Böck J, Wyatt A, Wünkhaus D, Passon M, Stieglitz M, Keller M, Hermey G, Markmann S, Gruber-Schoffnegger D, Cotman S, Johannes L, Crusius D, Boehm U, Wahl-Schott C, Biel M, Bracher F, De Leonibus E, Polishchuk E, Medina DL, Paquet D, Grimm C. Scotto Rosato A, et al. Among authors: medina dl. EMBO Mol Med. 2022 Sep 7;14(9):e15377. doi: 10.15252/emmm.202115377. Epub 2022 Aug 5. EMBO Mol Med. 2022. PMID: 35929194 Free PMC article.
A block of autophagy in lysosomal storage disorders.
Settembre C, Fraldi A, Jahreiss L, Spampanato C, Venturi C, Medina D, de Pablo R, Tacchetti C, Rubinsztein DC, Ballabio A. Settembre C, et al. Hum Mol Genet. 2008 Jan 1;17(1):119-29. doi: 10.1093/hmg/ddm289. Epub 2007 Oct 3. Hum Mol Genet. 2008. PMID: 17913701
FGF signalling regulates bone growth through autophagy.
Cinque L, Forrester A, Bartolomeo R, Svelto M, Venditti R, Montefusco S, Polishchuk E, Nusco E, Rossi A, Medina DL, Polishchuk R, De Matteis MA, Settembre C. Cinque L, et al. Among authors: medina dl. Nature. 2015 Dec 10;528(7581):272-5. doi: 10.1038/nature16063. Epub 2015 Nov 23. Nature. 2015. PMID: 26595272
TRPML1: The Ca(2+)retaker of the lysosome.
Di Paola S, Scotto-Rosato A, Medina DL. Di Paola S, et al. Among authors: medina dl. Cell Calcium. 2018 Jan;69:112-121. doi: 10.1016/j.ceca.2017.06.006. Epub 2017 Jun 24. Cell Calcium. 2018. PMID: 28689729 Review.
Fingolimod phosphate inhibits astrocyte inflammatory activity in mucolipidosis IV.
Weinstock LD, Furness AM, Herron SS, Smith SS, Sankar SB, DeRosa SG, Gao D, Mepyans ME, Scotto Rosato A, Medina DL, Vardi A, Ferreira NS, Cho SM, Futerman AH, Slaugenhaupt SA, Wood LB, Grishchuk Y. Weinstock LD, et al. Among authors: medina dl. Hum Mol Genet. 2018 Aug 1;27(15):2725-2738. doi: 10.1093/hmg/ddy182. Hum Mol Genet. 2018. PMID: 29771310 Free PMC article.
76 results