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Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease.
Cabrera-Salazar MA, Deriso M, Bercury SD, Li L, Lydon JT, Weber W, Pande N, Cromwell MA, Copeland D, Leonard J, Cheng SH, Scheule RK. Cabrera-Salazar MA, et al. Among authors: deriso m. PLoS One. 2012;7(8):e43310. doi: 10.1371/journal.pone.0043310. Epub 2012 Aug 17. PLoS One. 2012. PMID: 22912851 Free PMC article.
CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria.
Singh K, Cornell CS, Jackson R, Kabiri M, Phipps M, Desai M, Fogle R, Ying X, Anarat-Cappillino G, Geller S, Johnson J, Roberts E, Malley K, Devlin T, DeRiso M, Berthelette P, Zhang YV, Ryan S, Rao S, Thurberg BL, Bangari DS, Kyostio-Moore S. Singh K, et al. Among authors: deriso m. Sci Rep. 2021 Mar 31;11(1):7254. doi: 10.1038/s41598-021-86663-8. Sci Rep. 2021. PMID: 33790381 Free PMC article.
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ. Kroos MA, et al. Among authors: deriso m. Neurology. 2007 Jan 9;68(2):110-5. doi: 10.1212/01.wnl.0000252798.25690.76. Neurology. 2007. PMID: 17210890