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Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.
Santoro M, Perna A, La Rosa P, Petrillo S, Piemonte F, Rossi S, Riso V, Nicoletti TF, Modoni A, Pomponi MG, Chiurazzi P, Silvestri G. Santoro M, et al. Among authors: la rosa p. Neurogenetics. 2020 Oct;21(4):279-287. doi: 10.1007/s10048-020-00620-7. Epub 2020 Jul 7. Neurogenetics. 2020. PMID: 32638185
Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue.
Turchi R, Tortolici F, Guidobaldi G, Iacovelli F, Falconi M, Rufini S, Faraonio R, Casagrande V, Federici M, De Angelis L, Carotti S, Francesconi M, Zingariello M, Morini S, Bernardini R, Mattei M, La Rosa P, Piemonte F, Lettieri-Barbato D, Aquilano K. Turchi R, et al. Among authors: la rosa p. Cell Death Dis. 2020 Jan 23;11(1):51. doi: 10.1038/s41419-020-2253-2. Cell Death Dis. 2020. PMID: 31974344 Free PMC article.
Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells.
Marioli C, Magliocca V, Petrini S, Niceforo A, Borghi R, Petrillo S, La Rosa P, Colasuonno F, Persichini T, Piemonte F, Massey K, Tartaglia M, Moreno S, Bertini E, Compagnucci C. Marioli C, et al. Among authors: la rosa p. Int J Mol Sci. 2020 Oct 7;21(19):7402. doi: 10.3390/ijms21197402. Int J Mol Sci. 2020. PMID: 33036493 Free PMC article.
The Nrf2 induction prevents ferroptosis in Friedreich's Ataxia.
La Rosa P, Petrillo S, Turchi R, Berardinelli F, Schirinzi T, Vasco G, Lettieri-Barbato D, Fiorenza MT, Bertini ES, Aquilano K, Piemonte F. La Rosa P, et al. Redox Biol. 2021 Jan;38:101791. doi: 10.1016/j.redox.2020.101791. Epub 2020 Nov 5. Redox Biol. 2021. PMID: 33197769 Free PMC article.
98 results