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Page 1
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle.
Marchioretti C, Zanetti G, Pirazzini M, Gherardi G, Nogara L, Andreotti R, Martini P, Marcucci L, Canato M, Nath SR, Zuccaro E, Chivet M, Mammucari C, Pacifici M, Raffaello A, Rizzuto R, Mattarei A, Desbats MA, Salviati L, Megighian A, Sorarù G, Pegoraro E, Belluzzi E, Pozzuoli A, Biz C, Ruggieri P, Romualdi C, Lieberman AP, Babu GJ, Sandri M, Blaauw B, Basso M, Pennuto M. Marchioretti C, et al. Nat Commun. 2023 Feb 6;14(1):602. doi: 10.1038/s41467-023-36185-w. Nat Commun. 2023. PMID: 36746942 Free PMC article.
LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice.
Prakasam R, Bonadiman A, Andreotti R, Zuccaro E, Dalfovo D, Marchioretti C, Tripathy D, Petris G, Anderson EN, Migazzi A, Tosatto L, Cereseto A, Battaglioli E, Sorarù G, Lim WF, Rinaldi C, Sambataro F, Pourshafie N, Grunseich C, Romanel A, Pandey UB, Contestabile A, Ronzitti G, Basso M, Pennuto M. Prakasam R, et al. Among authors: marchioretti c. Nat Commun. 2023 Feb 6;14(1):603. doi: 10.1038/s41467-023-36186-9. Nat Commun. 2023. PMID: 36746939 Free PMC article.
Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function.
Piol D, Tosatto L, Zuccaro E, Anderson EN, Falconieri A, Polanco MJ, Marchioretti C, Lia F, White J, Bregolin E, Minervini G, Parodi S, Salvatella X, Arrigoni G, Ballabio A, La Spada AR, Tosatto SCE, Sambataro F, Medina DL, Pandey UB, Basso M, Pennuto M. Piol D, et al. Among authors: marchioretti c. Sci Adv. 2023 Jan 6;9(1):eade1694. doi: 10.1126/sciadv.ade1694. Epub 2023 Jan 6. Sci Adv. 2023. PMID: 36608116 Free PMC article.
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.
Turco EM, Giovenale AMG, Sireno L, Mazzoni M, Cammareri A, Marchioretti C, Goracci L, Di Veroli A, Marchesan E, D'Andrea D, Falconieri A, Torres B, Bernardini L, Magnifico MC, Paone A, Rinaldo S, Della Monica M, D'Arrigo S, Postorivo D, Nardone AM, Zampino G, Onesimo R, Leoni C, Caicci F, Raimondo D, Binda E, Trobiani L, De Jaco A, Tata AM, Ferrari D, Cutruzzolà F, Mazzoccoli G, Ziviani E, Pennuto M, Vescovi AL, Rosati J. Turco EM, et al. Among authors: marchioretti c. Cell Death Dis. 2022 Nov 21;13(11):981. doi: 10.1038/s41419-022-05410-7. Cell Death Dis. 2022. PMID: 36411275 Free PMC article.
Skeletal Muscle Pathogenesis in Polyglutamine Diseases.
Marchioretti C, Zuccaro E, Pandey UB, Rosati J, Basso M, Pennuto M. Marchioretti C, et al. Cells. 2022 Jul 3;11(13):2105. doi: 10.3390/cells11132105. Cells. 2022. PMID: 35805189 Free PMC article. Review.
MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease.
Nath SR, Lieberman ML, Yu Z, Marchioretti C, Jones ST, Danby ECE, Van Pelt KM, Sorarù G, Robins DM, Bates GP, Pennuto M, Lieberman AP. Nath SR, et al. Among authors: marchioretti c. Acta Neuropathol. 2020 Jul;140(1):63-80. doi: 10.1007/s00401-020-02156-4. Epub 2020 Apr 18. Acta Neuropathol. 2020. PMID: 32306066 Free PMC article.
Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism.
Chivet M, Marchioretti C, Pirazzini M, Piol D, Scaramuzzino C, Polanco MJ, Romanello V, Zuccaro E, Parodi S, D'Antonio M, Rinaldi C, Sambataro F, Pegoraro E, Soraru G, Pandey UB, Sandri M, Basso M, Pennuto M. Chivet M, et al. Among authors: marchioretti c. Cells. 2020 Jan 30;9(2):325. doi: 10.3390/cells9020325. Cells. 2020. PMID: 32019272 Free PMC article.
12 results