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Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.
Colaco A, Kaya E, Adriaenssens E, Davis LC, Zampieri S, Fernández-Suárez ME, Tan CY, Deegan PB, Porter FD, Galione A, Bembi B, Dardis A, Platt FM. Colaco A, et al. J Inherit Metab Dis. 2020 May;43(3):574-585. doi: 10.1002/jimd.12191. Epub 2019 Dec 5. J Inherit Metab Dis. 2020. PMID: 31707734 Free PMC article.
A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin.
Bergamin N, Dardis A, Beltrami A, Cesselli D, Rigo S, Zampieri S, Domenis R, Bembi B, Beltrami CA. Bergamin N, et al. Orphanet J Rare Dis. 2013 Feb 21;8:34. doi: 10.1186/1750-1172-8-34. Orphanet J Rare Dis. 2013. PMID: 23433359 Free PMC article.
Cells were induced to differentiate along a neuronal fate adapting methods previously described by Beltrami et al, 2007. The surface immunophenotype of stem cells was analyzed by FACS. Stem cell and neuronal markers expression were evaluated by immunofluorescence. ...
Cells were induced to differentiate along a neuronal fate adapting methods previously described by Beltrami et al, 2007. The surface …
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
Miocić S, Filocamo M, Dominissini S, Montalvo AL, Vlahovicek K, Deganuto M, Mazzotti R, Cariati R, Bembi B, Pittis MG. Miocić S, et al. Hum Mutat. 2005 Jan;25(1):100. doi: 10.1002/humu.9301. Hum Mutat. 2005. PMID: 15605411
Functional studies also included the c.662C>T (p.P221L) mutation recently reported in the Spanish GD population (Montfort et al., 2004). The missense mutant alleles retained an extremely low residual enzyme activity with respect to wild type; the complex allele expresse …
Functional studies also included the c.662C>T (p.P221L) mutation recently reported in the Spanish GD population (Montfort et al., …