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Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage.
Bidollari E, Rotundo G, Ferrari D, Candido O, Bernardini L, Consoli F, De Luca A, Santimone I, Lamorte G, Ilari A, Squitieri F, Vescovi AL, Rosati J. Bidollari E, et al. Among authors: squitieri f. Stem Cell Res. 2018 Apr;28:145-148. doi: 10.1016/j.scr.2018.02.014. Epub 2018 Feb 21. Stem Cell Res. 2018. PMID: 29486399 Free article.
Polyglutamine expansion affects huntingtin conformation in multiple Huntington's disease models.
Daldin M, Fodale V, Cariulo C, Azzollini L, Verani M, Martufi P, Spiezia MC, Deguire SM, Cherubini M, Macdonald D, Weiss A, Bresciani A, Vonsattel JG, Petricca L, Marsh JL, Gines S, Santimone I, Marano M, Lashuel HA, Squitieri F, Caricasole A. Daldin M, et al. Among authors: squitieri f. Sci Rep. 2017 Jul 11;7(1):5070. doi: 10.1038/s41598-017-05336-7. Sci Rep. 2017. PMID: 28698602 Free PMC article.
Phosphorylation of huntingtin at residue T3 is decreased in Huntington's disease and modulates mutant huntingtin protein conformation.
Cariulo C, Azzollini L, Verani M, Martufi P, Boggio R, Chiki A, Deguire SM, Cherubini M, Gines S, Marsh JL, Conforti P, Cattaneo E, Santimone I, Squitieri F, Lashuel HA, Petricca L, Caricasole A. Cariulo C, et al. Among authors: squitieri f. Proc Natl Acad Sci U S A. 2017 Dec 12;114(50):E10809-E10818. doi: 10.1073/pnas.1705372114. Epub 2017 Nov 21. Proc Natl Acad Sci U S A. 2017. PMID: 29162692 Free PMC article.
Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease.
Rotundo G, Bidollari E, Ferrari D, Spasari I, Bernardini L, Consoli F, De Luca A, Santimone I, Lamorte G, Migliore S, Squitieri F, Vescovi AL, Rosati J. Rotundo G, et al. Among authors: squitieri f. Stem Cell Res. 2018 May;29:174-178. doi: 10.1016/j.scr.2018.04.008. Epub 2018 Apr 21. Stem Cell Res. 2018. PMID: 29704769 Free article.
Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis.
Fusilli C, Migliore S, Mazza T, Consoli F, De Luca A, Barbagallo G, Ciammola A, Gatto EM, Cesarini M, Etcheverry JL, Parisi V, Al-Oraimi M, Al-Harrasi S, Al-Salmi Q, Marano M, Vonsattel JG, Sabatini U, Landwehrmeyer GB, Squitieri F. Fusilli C, et al. Among authors: squitieri f. Lancet Neurol. 2018 Nov;17(11):986-993. doi: 10.1016/S1474-4422(18)30294-1. Epub 2018 Sep 19. Lancet Neurol. 2018. PMID: 30243861
216 results