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206 results

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C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammals.
Franco-Romero A, Morbidoni V, Milan G, Sartori R, Wulff J, Romanello V, Armani A, Salviati L, Conte M, Salvioli S, Franceschi C, Buonomo V, Swoboda CO, Grumati P, Pannone L, Martinelli S, Jefferies HB, Dikic I, van der Laan J, Cabreiro F, Millay DP, Tooze SA, Trevisson E, Sandri M. Franco-Romero A, et al. Among authors: salviati l. J Clin Invest. 2024 Jun 13;134(15):e165814. doi: 10.1172/JCI165814. J Clin Invest. 2024. PMID: 38869949 Free PMC article.
OPA1 drives macrophage metabolism and functional commitment via p65 signaling.
Sánchez-Rodríguez R, Tezze C, Agnellini AHR, Angioni R, Venegas FC, Cioccarelli C, Munari F, Bertoldi N, Canton M, Desbats MA, Salviati L, Gissi R, Castegna A, Soriano ME, Sandri M, Scorrano L, Viola A, Molon B. Sánchez-Rodríguez R, et al. Among authors: salviati l. Cell Death Differ. 2023 Mar;30(3):742-752. doi: 10.1038/s41418-022-01076-y. Epub 2022 Oct 28. Cell Death Differ. 2023. PMID: 36307526 Free PMC article.
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, Petrizzelli F, Tripodi M, Pinna V, Zanobio M, Rotundo G, Bellacchio E, Lepri F, Farina A, D'Asdia MC, Piceci-Sparascio F, Biagini T, Petracca A, Castori M, Melis D, Accadia M, Traficante G, Tarani L, Fontana P, Sirchia F, Paparella R, Currò A, Benedicenti F, Scala I, Dentici ML, Leoni C, Trevisan V, Cecconi A, Giustini S, Pizzuti A, Salviati L, Novelli A, Zampino G, Zenker M, Genuardi M, Digilio MC, Papi L, Perrotta S, Nigro V, Castellanos E, Mazza T, Trevisson E, Tartaglia M, Piluso G, De Luca A. Mastromoro G, et al. Among authors: salviati l. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257
Non-Motor Symptoms in Primary Familial Brain Calcification.
Bonato G, Cimino P, Pistonesi F, Salviati L, Bertolin C, Carecchio M. Bonato G, et al. Among authors: salviati l. J Clin Med. 2024 Jun 30;13(13):3873. doi: 10.3390/jcm13133873. J Clin Med. 2024. PMID: 38999439 Free PMC article.
ZFHX4 truncating variant and orofacial clefting.
Sorrentino U, Fedrigo M, Calò AP, Perin M, Veronese P, Salviati L. Sorrentino U, et al. Among authors: salviati l. Am J Med Genet A. 2024 Jan;194(1):115-116. doi: 10.1002/ajmg.a.63353. Epub 2023 Jul 11. Am J Med Genet A. 2024. PMID: 37434517 No abstract available.
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
Gragnaniello V, Gueraldi D, Puma A, Commone A, Cazzorla C, Loro C, Porcù E, Stornaiuolo M, Miglioranza P, Salviati L, Wanders RJA, Burlina A. Gragnaniello V, et al. Among authors: salviati l. Orphanet J Rare Dis. 2023 Nov 16;18(1):358. doi: 10.1186/s13023-023-02940-x. Orphanet J Rare Dis. 2023. PMID: 37974207 Free PMC article.
Correction: Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain.
Doni D, Cavion F, Bortolus M, Baschiera E, Muccioli S, Tombesi G, d'Ettorre F, Ottaviani D, Marchesan E, Leanza L, Greggio E, Ziviani E, Russo A, Bellin M, Sartori G, Carbonera D, Salviati L, Costantini P. Doni D, et al. Among authors: salviati l. Cell Death Dis. 2024 Jan 29;15(1):93. doi: 10.1038/s41419-024-06459-2. Cell Death Dis. 2024. PMID: 38287008 Free PMC article. No abstract available.
206 results