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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. Among authors: attanasio s. Hum Mol Genet. 2017 Jan 1;26(1):33-43. doi: 10.1093/hmg/ddw365. Hum Mol Genet. 2017. PMID: 28013292 Free article.
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Pastore N, Attanasio S, Brunetti-Pierri N. Pastore N, et al. Among authors: attanasio s. Hepatology. 2017 Aug;66(2):677-678. doi: 10.1002/hep.29234. Epub 2017 Jun 28. Hepatology. 2017. PMID: 28437874 No abstract available.
Hepatic glutamine synthetase augmentation enhances ammonia detoxification.
Soria LR, Nitzahn M, De Angelis A, Khoja S, Attanasio S, Annunziata P, Palmer DJ, Ng P, Lipshutz GS, Brunetti-Pierri N. Soria LR, et al. Among authors: attanasio s. J Inherit Metab Dis. 2019 Nov;42(6):1128-1135. doi: 10.1002/jimd.12070. Epub 2019 Mar 11. J Inherit Metab Dis. 2019. PMID: 30724386 Free PMC article.
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder.
Cappuccio G, Attanasio S, Alagia M, Mutarelli M, Borzone R, Karali M, Genesio R, Mormile A, Nitsch L, Imperati F, Esposito A, Banfi S, Del Giudice E, Brunetti-Pierri N. Cappuccio G, et al. Among authors: attanasio s. Eur J Hum Genet. 2019 Sep;27(9):1475-1480. doi: 10.1038/s41431-019-0430-5. Epub 2019 May 31. Eur J Hum Genet. 2019. PMID: 31152157 Free PMC 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. Among authors: attanasio s. 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.
O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis.
Soria LR, Makris G, D'Alessio AM, De Angelis A, Boffa I, Pravata VM, Rüfenacht V, Attanasio S, Nusco E, Arena P, Ferenbach AT, Paris D, Cuomo P, Motta A, Nitzahn M, Lipshutz GS, Martínez-Pizarro A, Richard E, Desviat LR, Häberle J, van Aalten DMF, Brunetti-Pierri N. Soria LR, et al. Among authors: attanasio s. Nat Commun. 2022 Sep 5;13(1):5212. doi: 10.1038/s41467-022-32904-x. Nat Commun. 2022. PMID: 36064721 Free PMC article.
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.
Sorrentino NC, Presa M, Attanasio S, Cacace V, Sofia M, Zuberi A, Ryan J, Ray S, Petkovic I, Radhakrishnan K, Schlotawa L, Ballabio A, Lutz C, Brunetti-Pierri N. Sorrentino NC, et al. Among authors: attanasio s. J Inherit Metab Dis. 2023 Mar;46(2):335-347. doi: 10.1002/jimd.12577. Epub 2022 Dec 11. J Inherit Metab Dis. 2023. PMID: 36433920 Free PMC article.
48 results