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Full-length ATP7B reconstituted through protein trans-splicing corrects Wilson disease in mice.
Padula A, Petruzzelli R, Philbert SA, Church SJ, Esposito F, Campione S, Monti M, Capolongo F, Perna C, Nusco E, Schmidt HH, Auricchio A, Cooper GJS, Polishchuk R, Piccolo P. Padula A, et al. Among authors: piccolo p. Mol Ther Methods Clin Dev. 2022 Aug 13;26:495-504. doi: 10.1016/j.omtm.2022.08.004. eCollection 2022 Sep 8. Mol Ther Methods Clin Dev. 2022. PMID: 36092366 Free PMC article.
Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency.
Pastore N, Blomenkamp K, Annunziata F, Piccolo P, Mithbaokar P, Maria Sepe R, Vetrini F, Palmer D, Ng P, Polishchuk E, Iacobacci S, Polishchuk R, Teckman J, Ballabio A, Brunetti-Pierri N. Pastore N, et al. Among authors: piccolo p. EMBO Mol Med. 2013 Mar;5(3):397-412. doi: 10.1002/emmm.201202046. Epub 2013 Feb 4. EMBO Mol Med. 2013. PMID: 23381957 Free PMC article.
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis.
Polishchuk EV, Concilli M, Iacobacci S, Chesi G, Pastore N, Piccolo P, Paladino S, Baldantoni D, van IJzendoorn SC, Chan J, Chang CJ, Amoresano A, Pane F, Pucci P, Tarallo A, Parenti G, Brunetti-Pierri N, Settembre C, Ballabio A, Polishchuk RS. Polishchuk EV, et al. Among authors: piccolo p. Dev Cell. 2014 Jun 23;29(6):686-700. doi: 10.1016/j.devcel.2014.04.033. Epub 2014 Jun 5. Dev Cell. 2014. PMID: 24909901 Free PMC article.
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.
Piccolo P, Attanasio S, Secco I, Sangermano R, Strisciuglio C, Limongelli G, Miele E, Mutarelli M, Banfi S, Nigro V, Pons T, Valencia A, Zentilin L, Campione S, Nardone G, Lynnes TC, Celestino-Soper PB, Spoonamore KG, D'Armiento FP, Giacca M, Staiano A, Vatta M, Collesi C, Brunetti-Pierri N. Piccolo P, et al. Hum Mol Genet. 2017 Jan 1;26(1):33-43. doi: 10.1093/hmg/ddw365. Hum Mol Genet. 2017. PMID: 28013292 Free article.
Up-regulation of miR-34b/c by JNK and FOXO3 protects from liver fibrosis.
Piccolo P, Ferriero R, Barbato A, Attanasio S, Monti M, Perna C, Borel F, Annunziata P, Carissimo A, De Cegli R, Quagliata L, Terracciano LM, Housset C, Teckman JH, Mueller C, Brunetti-Pierri N. Piccolo P, et al. Proc Natl Acad Sci U S A. 2021 Mar 9;118(10):e2025242118. doi: 10.1073/pnas.2025242118. Proc Natl Acad Sci U S A. 2021. PMID: 33649241 Free PMC article.
99 results