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NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.
Encarnação M, Coutinho MF, Cho SM, Cardoso MT, Ribeiro I, Chaves P, Santos JI, Quelhas D, Lacerda L, Leão Teles E, Futerman AH, Vilarinho L, Alves S. Encarnação M, et al. Among authors: cho sm. Mol Genet Genomic Med. 2020 Nov;8(11):e1451. doi: 10.1002/mgg3.1451. Epub 2020 Sep 15. Mol Genet Genomic Med. 2020. PMID: 32931663 Free PMC article.
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: cho sm. Hum Mol Genet. 2018 Aug 1;27(15):2725-2738. doi: 10.1093/hmg/ddy182. Hum Mol Genet. 2018. PMID: 29771310 Free PMC article.
Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease.
Pewzner-Jung Y, Joseph T, Blumenreich S, Vardi A, Ferreira NS, Cho SM, Eilam R, Tsoory M, Biton IE, Brumfeld V, Haffner-Krausz R, Brenner O, Sharabi N, Addadi Y, Salame TM, Rotkopf R, Wigoda N, Yayon N, Merrill AH Jr, Schiffmann R, Futerman AH. Pewzner-Jung Y, et al. Among authors: cho sm. Prog Neurobiol. 2021 Feb;197:101939. doi: 10.1016/j.pneurobio.2020.101939. Epub 2020 Nov 3. Prog Neurobiol. 2021. PMID: 33152398
816 results