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De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: pedemonte n. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasia.
Scudieri P, Caci E, Bruno S, Ferrera L, Schiavon M, Sondo E, Tomati V, Gianotti A, Zegarra-Moran O, Pedemonte N, Rea F, Ravazzolo R, Galietta LJ. Scudieri P, et al. Among authors: pedemonte n. J Physiol. 2012 Dec 1;590(23):6141-55. doi: 10.1113/jphysiol.2012.240838. Epub 2012 Sep 17. J Physiol. 2012. PMID: 22988141 Free PMC article.
In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.
Lualdi S, Del Zotto G, Zegarra-Moran O, Pedemonte N, Corsolini F, Bruschi M, Tomati V, Amico G, Candiano G, Dardis A, Cooper DN, Filocamo M. Lualdi S, et al. Among authors: pedemonte n. Hum Mutat. 2017 Jul;38(7):849-862. doi: 10.1002/humu.23243. Epub 2017 May 22. Hum Mutat. 2017. PMID: 28477385
SWATH label-free proteomics for cystic fibrosis research.
Braccia C, Tomati V, Caci E, Pedemonte N, Armirotti A. Braccia C, et al. Among authors: pedemonte n. J Cyst Fibros. 2019 Jul;18(4):501-506. doi: 10.1016/j.jcf.2018.10.004. Epub 2018 Oct 19. J Cyst Fibros. 2019. PMID: 30348611 Free article.
The Autophagy Inhibitor Spautin-1 Antagonizes Rescue of Mutant CFTR Through an Autophagy-Independent and USP13-Mediated Mechanism.
Pesce E, Sondo E, Ferrera L, Tomati V, Caci E, Scudieri P, Musante I, Renda M, Baatallah N, Servel N, Hinzpeter A, di Bernardo D, Pedemonte N, Galietta LJV. Pesce E, et al. Among authors: pedemonte n. Front Pharmacol. 2018 Dec 13;9:1464. doi: 10.3389/fphar.2018.01464. eCollection 2018. Front Pharmacol. 2018. PMID: 30618756 Free PMC article.
CFTR processing, trafficking and interactions.
Amaral MD, Hutt DM, Tomati V, Botelho HM, Pedemonte N. Amaral MD, et al. Among authors: pedemonte n. J Cyst Fibros. 2020 Mar;19 Suppl 1:S33-S36. doi: 10.1016/j.jcf.2019.10.017. Epub 2019 Oct 31. J Cyst Fibros. 2020. PMID: 31680043 Free article. Review.
108 results