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Page 1
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Abiusi E, Vaisfeld A, Fiori S, Novelli A, Spartano S, Faggiano MV, Giovanniello T, Angeloni A, Vento G, Santoloci R, Gigli F, D'Amico A, Costa S, Porzi A, Panella M, Ticci C, Daniotti M, Sacchini M, Boschi I, Dani C, Agostiniani R, Bertini E, Lanzone A, Lamarca G, Genuardi M, Pane M, Donati MA, Mercuri E, Tiziano FD; Italian SMA-NBS group. Abiusi E, et al. J Med Genet. 2023 Jul;60(7):697-705. doi: 10.1136/jmg-2022-108873. Epub 2022 Nov 22. J Med Genet. 2023. PMID: 36414255
Ultrasensitive quantitative measurement of huntingtin phosphorylation at residue S13.
Cariulo C, Verani M, Martufi P, Ingenito R, Finotto M, Deguire SM, Lavery DJ, Toledo-Sherman L, Lee R, Doherty EM, Vogt TF, Dominguez C, Lashuel HA, Petricca L, Caricasole A. Cariulo C, et al. Among authors: martufi p. Biochem Biophys Res Commun. 2020 Jan 15;521(3):549-554. doi: 10.1016/j.bbrc.2019.09.097. Epub 2019 Oct 31. Biochem Biophys Res Commun. 2020. PMID: 31677786
Inhibiting pathologically active ADAM10 rescues synaptic and cognitive decline in Huntington's disease.
Vezzoli E, Caron I, Talpo F, Besusso D, Conforti P, Battaglia E, Sogne E, Falqui A, Petricca L, Verani M, Martufi P, Caricasole A, Bresciani A, Cecchetti O, Rivetti di Val Cervo P, Sancini G, Riess O, Nguyen H, Seipold L, Saftig P, Biella G, Cattaneo E, Zuccato C. Vezzoli E, et al. Among authors: martufi p. J Clin Invest. 2019 May 6;129(6):2390-2403. doi: 10.1172/JCI120616. eCollection 2019 May 6. J Clin Invest. 2019. PMID: 31063986 Free PMC article.
TBK1 phosphorylates mutant Huntingtin and suppresses its aggregation and toxicity in Huntington's disease models.
Hegde RN, Chiki A, Petricca L, Martufi P, Arbez N, Mouchiroud L, Auwerx J, Landles C, Bates GP, Singh-Bains MK, Dragunow M, Curtis MA, Faull RL, Ross CA, Caricasole A, Lashuel HA. Hegde RN, et al. Among authors: martufi p. EMBO J. 2020 Sep 1;39(17):e104671. doi: 10.15252/embj.2020104671. Epub 2020 Aug 5. EMBO J. 2020. PMID: 32757223 Free PMC 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: martufi p. 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: martufi p. 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.
Phospho-S129 Alpha-Synuclein Is Present in Human Plasma but Not in Cerebrospinal Fluid as Determined by an Ultrasensitive Immunoassay.
Cariulo C, Martufi P, Verani M, Azzollini L, Bruni G, Weiss A, Deguire SM, Lashuel HA, Scaricamazza E, Sancesario GM, Schirinzi T, Mercuri NB, Sancesario G, Caricasole A, Petricca L. Cariulo C, et al. Among authors: martufi p. Front Neurosci. 2019 Aug 22;13:889. doi: 10.3389/fnins.2019.00889. eCollection 2019. Front Neurosci. 2019. PMID: 31507364 Free PMC article.